Details for: TRRAP

Gene ID: 8295

Symbol: TRRAP

Ensembl ID: ENSG00000196367

Description: transformation/transcription domain associated protein

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 272.6538
    Cell Significance Index: -42.4100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 163.9309
    Cell Significance Index: -41.5800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 90.9086
    Cell Significance Index: -42.9200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 83.0509
    Cell Significance Index: -33.7400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 63.9770
    Cell Significance Index: -42.9300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.3498
    Cell Significance Index: -33.7500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.7133
    Cell Significance Index: -42.8000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.2453
    Cell Significance Index: -40.8400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.8771
    Cell Significance Index: -36.4800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.8970
    Cell Significance Index: -43.0000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.7911
    Cell Significance Index: -19.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8247
    Cell Significance Index: 102.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7993
    Cell Significance Index: 357.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7091
    Cell Significance Index: 342.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.7003
    Cell Significance Index: 168.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.3755
    Cell Significance Index: 60.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.3312
    Cell Significance Index: 50.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3168
    Cell Significance Index: 472.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3128
    Cell Significance Index: 100.7400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.0663
    Cell Significance Index: 65.5400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.0061
    Cell Significance Index: 24.1300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.9900
    Cell Significance Index: 66.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.9846
    Cell Significance Index: 25.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9189
    Cell Significance Index: 149.4600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9052
    Cell Significance Index: 12.3500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8979
    Cell Significance Index: 97.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8776
    Cell Significance Index: 607.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7394
    Cell Significance Index: 44.3900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.5691
    Cell Significance Index: 12.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5214
    Cell Significance Index: 14.5700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4929
    Cell Significance Index: 88.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4067
    Cell Significance Index: 8.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3995
    Cell Significance Index: 27.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3754
    Cell Significance Index: 46.1600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3510
    Cell Significance Index: 15.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3334
    Cell Significance Index: 9.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2002
    Cell Significance Index: 308.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1928
    Cell Significance Index: 363.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1828
    Cell Significance Index: 337.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1780
    Cell Significance Index: 97.2200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1740
    Cell Significance Index: 157.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1559
    Cell Significance Index: 99.0300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1406
    Cell Significance Index: 2.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1327
    Cell Significance Index: 25.2600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0901
    Cell Significance Index: 3.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0847
    Cell Significance Index: 115.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0829
    Cell Significance Index: 36.6600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0826
    Cell Significance Index: 37.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0707
    Cell Significance Index: 8.3400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0250
    Cell Significance Index: 1.3000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0202
    Cell Significance Index: 0.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0194
    Cell Significance Index: 2.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0185
    Cell Significance Index: 0.9600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0036
    Cell Significance Index: -0.1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0082
    Cell Significance Index: -0.2200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0141
    Cell Significance Index: -2.0500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0243
    Cell Significance Index: -0.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0286
    Cell Significance Index: -20.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0398
    Cell Significance Index: -2.5700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0411
    Cell Significance Index: -30.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0536
    Cell Significance Index: -40.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0675
    Cell Significance Index: -38.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0772
    Cell Significance Index: -48.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0856
    Cell Significance Index: -1.6700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0884
    Cell Significance Index: -1.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1265
    Cell Significance Index: -5.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1266
    Cell Significance Index: -21.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1325
    Cell Significance Index: -8.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1477
    Cell Significance Index: -42.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1484
    Cell Significance Index: -17.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1534
    Cell Significance Index: -19.6600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1650
    Cell Significance Index: -16.8500
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.1898
    Cell Significance Index: -2.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1924
    Cell Significance Index: -5.4900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2010
    Cell Significance Index: -4.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2160
    Cell Significance Index: -45.5100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2196
    Cell Significance Index: -4.8100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2338
    Cell Significance Index: -30.2100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2715
    Cell Significance Index: -31.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2953
    Cell Significance Index: -30.7500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3146
    Cell Significance Index: -6.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3851
    Cell Significance Index: -28.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3851
    Cell Significance Index: -5.6900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4256
    Cell Significance Index: -13.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4346
    Cell Significance Index: -30.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4418
    Cell Significance Index: -34.9900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.4674
    Cell Significance Index: -9.9200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.4923
    Cell Significance Index: -7.0800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5328
    Cell Significance Index: -13.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5593
    Cell Significance Index: -34.2900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6105
    Cell Significance Index: -15.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6208
    Cell Significance Index: -16.3300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6256
    Cell Significance Index: -3.7800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6390
    Cell Significance Index: -20.3500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6396
    Cell Significance Index: -20.9400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.6464
    Cell Significance Index: -8.0600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6660
    Cell Significance Index: -33.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6699
    Cell Significance Index: -35.1700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6814
    Cell Significance Index: -13.6800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6934
    Cell Significance Index: -13.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** TRRAP is a highly conserved gene that encodes a protein with a unique structure, consisting of multiple domains and motifs. The gene is expressed in various cell types, including anterior lens cells, corneal endothelial cells, and GABAergic cortical interneurons. Its expression is also observed in other cell types, such as astrocytes and VIP GABAergic cortical interneurons. TRRAP is involved in multiple cellular processes, including chromatin regulation, DNA repair, and transcriptional control. **Pathways and Functions:** TRRAP is involved in several key pathways, including: 1. **Chromatin modifying enzymes:** TRRAP participates in the acetylation of histones, which is essential for chromatin remodeling and gene expression. 2. **Deubiquitination:** TRRAP is involved in the removal of ubiquitin tags from histone proteins, which is necessary for chromatin regulation and gene expression. 3. **DNA repair:** TRRAP is involved in the repair of double-strand breaks via homologous recombination, which is essential for maintaining genome stability. 4. **Wnt/β-catenin pathway:** TRRAP is a key component of the Wnt/β-catenin signaling pathway, which is involved in regulating cellular responses to external stimuli. 5. **Golgi apparatus:** TRRAP is involved in the regulation of protein trafficking and secretion from the Golgi apparatus. TRRAP's functions can be summarized as follows: 1. **Chromatin regulation:** TRRAP participates in the acetylation of histones, which is essential for chromatin remodeling and gene expression. 2. **DNA repair:** TRRAP is involved in the repair of double-strand breaks via homologous recombination, which is essential for maintaining genome stability. 3. **Transcriptional control:** TRRAP is involved in the regulation of transcription by RNA polymerase II, which is essential for gene expression. 4. **Cell cycle regulation:** TRRAP is involved in the regulation of the cell cycle, which is essential for cell proliferation and differentiation. **Clinical Significance:** Dysregulation of TRRAP has been implicated in various diseases, including: 1. **Cancer:** TRRAP is involved in the regulation of chromatin structure and gene expression, which is essential for cancer cell proliferation and survival. 2. **Neurodegenerative diseases:** TRRAP is involved in the regulation of chromatin structure and gene expression, which is essential for maintaining genome stability and preventing neurodegeneration. 3. **Neurodevelopmental disorders:** TRRAP is expressed in GABAergic cortical interneurons, which are involved in regulating neuronal activity and development. In conclusion, TRRAP is a multifunctional gene that plays a crucial role in various cellular processes, including chromatin regulation, DNA repair, and transcriptional control. Its involvement in multiple signaling pathways highlights the gene's importance in regulating cellular responses to external stimuli. Dysregulation of TRRAP has been implicated in various diseases, emphasizing the need for further research into the gene's functions and its potential therapeutic applications.

Genular Protein ID: 3479451008

Symbol: TRRAP_HUMAN

Name: Transformation/transcription domain-associated protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9708738

Title: The novel ATM-related protein TRRAP is an essential cofactor for the c-Myc and E2F oncoproteins.

PubMed ID: 9708738

DOI: 10.1016/s0092-8674(00)81479-8

PubMed ID: 9885574

Title: The 400 kDa subunit of the PCAF histone acetylase complex belongs to the ATM superfamily.

PubMed ID: 9885574

DOI: 10.1016/s1097-2765(00)80301-9

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 11564863

Title: Human STAGA complex is a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage-binding factors in vivo.

PubMed ID: 11564863

DOI: 10.1128/mcb.21.20.6782-6795.2001

PubMed ID: 10373431

Title: Identification of TATA-binding protein-free TAFII-containing complex subunits suggests a role in nucleosome acetylation and signal transduction.

PubMed ID: 10373431

DOI: 10.1074/jbc.274.26.18285

PubMed ID: 10966108

Title: Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis.

PubMed ID: 10966108

DOI: 10.1016/s0092-8674(00)00051-9

PubMed ID: 10611234

Title: The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc.

PubMed ID: 10611234

DOI: 10.1128/mcb.20.2.556-562.2000

PubMed ID: 11418595

Title: E2F transcriptional activation requires TRRAP and GCN5 cofactors.

PubMed ID: 11418595

DOI: 10.1074/jbc.m102067200

PubMed ID: 11445536

Title: The ATM-related domain of TRRAP is required for histone acetyltransferase recruitment and Myc-dependent oncogenesis.

PubMed ID: 11445536

DOI: 10.1101/gad.900101

PubMed ID: 12138177

Title: Transcriptional regulation of the mdm2 oncogene by p53 requires TRRAP acetyltransferase complexes.

PubMed ID: 12138177

DOI: 10.1128/mcb.22.16.5650-5661.2002

PubMed ID: 11839798

Title: BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation.

PubMed ID: 11839798

DOI: 10.1128/mcb.22.5.1307-1316.2002

PubMed ID: 12743606

Title: The adenovirus E1A oncoprotein recruits the cellular TRRAP/GCN5 histone acetyltransferase complex.

PubMed ID: 12743606

DOI: 10.1038/sj.onc.1206376

PubMed ID: 12660246

Title: c-Myc transformation domain recruits the human STAGA complex and requires TRRAP and GCN5 acetylase activity for transcription activation.

PubMed ID: 12660246

DOI: 10.1074/jbc.m211795200

PubMed ID: 14966270

Title: Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans.

PubMed ID: 14966270

DOI: 10.1128/mcb.24.5.1884-1896.2004

PubMed ID: 18206972

Title: A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.

PubMed ID: 18206972

DOI: 10.1016/j.molcel.2007.12.011

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 17967892

Title: Transcriptional activation of histone genes requires NPAT-dependent recruitment of TRRAP-Tip60 complex to histone promoters during the G1/S phase transition.

PubMed ID: 17967892

DOI: 10.1128/mcb.00607-07

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20427287

Title: Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.

PubMed ID: 20427287

DOI: 10.1074/jbc.m110.121699

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21499247

Title: Exome sequencing identifies GRIN2A as frequently mutated in melanoma.

PubMed ID: 21499247

DOI: 10.1038/ng.810

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24463511

Title: ANP32E is a histone chaperone that removes H2A.Z from chromatin.

PubMed ID: 24463511

DOI: 10.1038/nature12922

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 30424743

Title: De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

PubMed ID: 30424743

DOI: 10.1186/s12881-018-0711-9

PubMed ID: 30827496

Title: Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

PubMed ID: 30827496

DOI: 10.1016/j.ajhg.2019.01.010

PubMed ID: 31231791

Title: Novel TRRAP mutation causes autosomal dominant non-syndromic hearing loss.

PubMed ID: 31231791

DOI: 10.1111/cge.13590

Sequence Information:

  • Length: 3859
  • Mass: 437600
  • Checksum: 391E467C0047B00B
  • Sequence:
  • MAFVATQGAT VVDQTTLMKK YLQFVAALTD VNTPDETKLK MMQEVSENFE NVTSSPQYST 
    FLEHIIPRFL TFLQDGEVQF LQEKPAQQLR KLVLEIIHRI PTNEHLRPHT KNVLSVMFRF 
    LETENEENVL ICLRIIIELH KQFRPPITQE IHHFLDFVKQ IYKELPKVVN RYFENPQVIP 
    ENTVPPPEMV GMITTIAVKV NPEREDSETR THSIIPRGSL SLKVLAELPI IVVLMYQLYK 
    LNIHNVVAEF VPLIMNTIAI QVSAQARQHK LYNKELYADF IAAQIKTLSF LAYIIRIYQE 
    LVTKYSQQMV KGMLQLLSNC PAETAHLRKE LLIAAKHILT TELRNQFIPC MDKLFDESIL 
    IGSGYTARET LRPLAYSTLA DLVHHVRQHL PLSDLSLAVQ LFAKNIDDES LPSSIQTMSC 
    KLLLNLVDCI RSKSEQESGN GRDVLMRMLE VFVLKFHTIA RYQLSAIFKK CKPQSELGAV 
    EAALPGVPTA PAAPGPAPSP APVPAPPPPP PPPPPATPVT PAPVPPFEKQ GEKDKEDKQT 
    FQVTDCRSLV KTLVCGVKTI TWGITSCKAP GEAQFIPNKQ LQPKETQIYI KLVKYAMQAL 
    DIYQVQIAGN GQTYIRVANC QTVRMKEEKE VLEHFAGVFT MMNPLTFKEI FQTTVPYMVE 
    RISKNYALQI VANSFLANPT TSALFATILV EYLLDRLPEM GSNVELSNLY LKLFKLVFGS 
    VSLFAAENEQ MLKPHLHKIV NSSMELAQTA KEPYNYFLLL RALFRSIGGG SHDLLYQEFL 
    PLLPNLLQGL NMLQSGLHKQ HMKDLFVELC LTVPVRLSSL LPYLPMLMDP LVSALNGSQT 
    LVSQGLRTLE LCVDNLQPDF LYDHIQPVRA ELMQALWRTL RNPADSISHV AYRVLGKFGG 
    SNRKMLKESQ KLHYVVTEVQ GPSITVEFSD CKASLQLPME KAIETALDCL KSANTEPYYR 
    RQAWEVIKCF LVAMMSLEDN KHALYQLLAH PNFTEKTIPN VIISHRYKAQ DTPARKTFEQ 
    ALTGAFMSAV IKDLRPSALP FVASLIRHYT MVAVAQQCGP FLLPCYQVGS QPSTAMFHSE 
    ENGSKGMDPL VLIDAIAICM AYEEKELCKI GEVALAVIFD VASIILGSKE RACQLPLFSY 
    IVERLCACCY EQAWYAKLGG VVSIKFLMER LPLTWVLQNQ QTFLKALLFV MMDLTGEVSN 
    GAVAMAKTTL EQLLMRCATP LKDEERAEEI VAAQEKSFHH VTHDLVREVT SPNSTVRKQA 
    MHSLQVLAQV TGKSVTVIME PHKEVLQDMV PPKKHLLRHQ PANAQIGLME GNTFCTTLQP 
    RLFTMDLNVV EHKVFYTELL NLCEAEDSAL TKLPCYKSLP SLVPLRIAAL NALAACNYLP 
    QSREKIIAAL FKALNSTNSE LQEAGEACMR KFLEGATIEV DQIHTHMRPL LMMLGDYRSL 
    TLNVVNRLTS VTRLFPNSFN DKFCDQMMQH LRKWMEVVVI THKGGQRSDG NESISECGRC 
    PLSPFCQFEE MKICSAIINL FHLIPAAPQT LVKPLLEVVM KTERAMLIEA GSPFREPLIK 
    FLTRHPSQTV ELFMMEATLN DPQWSRMFMS FLKHKDARPL RDVLAANPNR FITLLLPGGA 
    QTAVRPGSPS TSTMRLDLQF QAIKIISIIV KNDDSWLASQ HSLVSQLRRV WVSENFQERH 
    RKENMAATNW KEPKLLAYCL LNYCKRNYGD IELLFQLLRA FTGRFLCNMT FLKEYMEEEI 
    PKNYSIAQKR ALFFRFVDFN DPNFGDELKA KVLQHILNPA FLYSFEKGEG EQLLGPPNPE 
    GDNPESITSV FITKVLDPEK QADMLDSLRI YLLQYATLLV EHAPHHIHDN NKNRNSKLRR 
    LMTFAWPCLL SKACVDPACK YSGHLLLAHI IAKFAIHKKI VLQVFHSLLK AHAMEARAIV 
    RQAMAILTPA VPARMEDGHQ MLTHWTRKII VEEGHTVPQL VHILHLIVQH FKVYYPVRHH 
    LVQHMVSAMQ RLGFTPSVTI EQRRLAVDLS EVVIKWELQR IKDQQPDSDM DPNSSGEGVN 
    SVSSSIKRGL SVDSAQEVKR FRTATGAISA VFGRSQSLPG ADSLLAKPID KQHTDTVVNF 
    LIRVACQVND NTNTAGSPGE VLSRRCVNLL KTALRPDMWP KSELKLQWFD KLLMTVEQPN 
    QVNYGNICTG LEVLSFLLTV LQSPAILSSF KPLQRGIAAC MTCGNTKVLR AVHSLLSRLM 
    SIFPTEPSTS SVASKYEELE CLYAAVGKVI YEGLTNYEKA TNANPSQLFG TLMILKSACS 
    NNPSYIDRLI SVFMRSLQKM VREHLNPQAA SGSTEATSGT SELVMLSLEL VKTRLAVMSM 
    EMRKNFIQAI LTSLIEKSPD AKILRAVVKI VEEWVKNNSP MAANQTPTLR EKSILLVKMM 
    TYIEKRFPED LELNAQFLDL VNYVYRDETL SGSELTAKLE PAFLSGLRCA QPLIRAKFFE 
    VFDNSMKRRV YERLLYVTCS QNWEAMGNHF WIKQCIELLL AVCEKSTPIG TSCQGAMLPS 
    ITNVINLADS HDRAAFAMVT HVKQEPRERE NSESKEEDVE IDIELAPGDQ TSTPKTKELS 
    EKDIGNQLHM LTNRHDKFLD TLREVKTGAL LSAFVQLCHI STTLAEKTWV QLFPRLWKIL 
    SDRQQHALAG EISPFLCSGS HQVQRDCQPS ALNCFVEAMS QCVPPIPIRP CVLKYLGKTH 
    NLWFRSTLML EHQAFEKGLS LQIKPKQTTE FYEQESITPP QQEILDSLAE LYSLLQEEDM 
    WAGLWQKRCK YSETATAIAY EQHGFFEQAQ ESYEKAMDKA KKEHERSNAS PAIFPEYQLW 
    EDHWIRCSKE LNQWEALTEY GQSKGHINPY LVLECAWRVS NWTAMKEALV QVEVSCPKEM 
    AWKVNMYRGY LAICHPEEQQ LSFIERLVEM ASSLAIREWR RLPHVVSHVH TPLLQAAQQI 
    IELQEAAQIN AGLQPTNLGR NNSLHDMKTV VKTWRNRLPI VSDDLSHWSS IFMWRQHHYQ 
    GKPTWSGMHS SSIVTAYENS SQHDPSSNNA MLGVHASASA IIQYGKIARK QGLVNVALDI 
    LSRIHTIPTV PIVDCFQKIR QQVKCYLQLA GVMGKNECMQ GLEVIESTNL KYFTKEMTAE 
    FYALKGMFLA QINKSEEANK AFSAAVQMHD VLVKAWAMWG DYLENIFVKE RQLHLGVSAI 
    TCYLHACRHQ NESKSRKYLA KVLWLLSFDD DKNTLADAVD KYCIGVPPIQ WLAWIPQLLT 
    CLVGSEGKLL LNLISQVGRV YPQAVYFPIR TLYLTLKIEQ RERYKSDPGP IRATAPMWRC 
    SRIMHMQREL HPTLLSSLEG IVDQMVWFRE NWHEEVLRQL QQGLAKCYSV AFEKSGAVSD 
    AKITPHTLNF VKKLVSTFGV GLENVSNVST MFSSAASESL ARRAQATAQD PVFQKLKGQF 
    TTDFDFSVPG SMKLHNLISK LKKWIKILEA KTKQLPKFFL IEEKCRFLSN FSAQTAEVEI 
    PGEFLMPKPT HYYIKIARFM PRVEIVQKHN TAARRLYIRG HNGKIYPYLV MNDACLTESR 
    REERVLQLLR LLNPCLEKRK ETTKRHLFFT VPRVVAVSPQ MRLVEDNPSS LSLVEIYKQR 
    CAKKGIEHDN PISRYYDRLA TVQARGTQAS HQVLRDILKE VQSNMVPRSM LKEWALHTFP 
    NATDYWTFRK MFTIQLALIG FAEFVLHLNR LNPEMLQIAQ DTGKLNVAYF RFDINDATGD 
    LDANRPVPFR LTPNISEFLT TIGVSGPLTA SMIAVARCFA QPNFKVDGIL KTVLRDEIIA 
    WHKKTQEDTS SPLSAAGQPE NMDSQQLVSL VQKAVTAIMT RLHNLAQFEG GESKVNTLVA 
    AANSLDNLCR MDPAWHPWL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.