Details for: ARID1A

Gene ID: 8289

Symbol: ARID1A

Ensembl ID: ENSG00000117713

Description: AT-rich interaction domain 1A

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: 395.3191
    Cell Significance Index: -61.4900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 230.6388
    Cell Significance Index: -58.5000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 170.7499
    Cell Significance Index: -70.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 142.6536
    Cell Significance Index: -67.3500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 137.7207
    Cell Significance Index: -55.9500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 124.3912
    Cell Significance Index: -63.9900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 100.4140
    Cell Significance Index: -67.3800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 59.1363
    Cell Significance Index: -56.4600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 52.5242
    Cell Significance Index: -64.7600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 23.2599
    Cell Significance Index: -62.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 18.8364
    Cell Significance Index: -57.8600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.6496
    Cell Significance Index: -65.7000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 14.0958
    Cell Significance Index: -30.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 2.8035
    Cell Significance Index: 157.3200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.4590
    Cell Significance Index: 68.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.4264
    Cell Significance Index: 481.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.8509
    Cell Significance Index: 96.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8306
    Cell Significance Index: 367.2200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4462
    Cell Significance Index: 157.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3726
    Cell Significance Index: 492.3400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3233
    Cell Significance Index: 101.5500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.0956
    Cell Significance Index: 70.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0484
    Cell Significance Index: 188.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0153
    Cell Significance Index: 124.8500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8594
    Cell Significance Index: 594.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8111
    Cell Significance Index: 442.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.7764
    Cell Significance Index: 47.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6313
    Cell Significance Index: 18.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5559
    Cell Significance Index: 245.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5244
    Cell Significance Index: 72.0100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2818
    Cell Significance Index: 33.2300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2288
    Cell Significance Index: 206.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2196
    Cell Significance Index: 10.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1821
    Cell Significance Index: 4.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1746
    Cell Significance Index: 7.7300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1460
    Cell Significance Index: 18.7200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1360
    Cell Significance Index: 23.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1318
    Cell Significance Index: 9.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0801
    Cell Significance Index: 108.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0679
    Cell Significance Index: 12.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0616
    Cell Significance Index: 3.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0486
    Cell Significance Index: 91.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0385
    Cell Significance Index: 2.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0352
    Cell Significance Index: 1.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0326
    Cell Significance Index: 50.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0275
    Cell Significance Index: 50.6300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0217
    Cell Significance Index: 13.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0104
    Cell Significance Index: 4.7000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0092
    Cell Significance Index: 0.3500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0071
    Cell Significance Index: 0.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0154
    Cell Significance Index: -2.5100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0234
    Cell Significance Index: -17.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0261
    Cell Significance Index: -19.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0347
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0522
    Cell Significance Index: -32.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0598
    Cell Significance Index: -45.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0747
    Cell Significance Index: -1.2800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0763
    Cell Significance Index: -1.8300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0835
    Cell Significance Index: -47.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1703
    Cell Significance Index: -17.4000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1735
    Cell Significance Index: -6.0300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1757
    Cell Significance Index: -17.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2006
    Cell Significance Index: -57.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2006
    Cell Significance Index: -42.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2109
    Cell Significance Index: -13.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2256
    Cell Significance Index: -26.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2329
    Cell Significance Index: -30.1000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2530
    Cell Significance Index: -36.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2553
    Cell Significance Index: -11.5700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2562
    Cell Significance Index: -4.7400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3226
    Cell Significance Index: -8.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3747
    Cell Significance Index: -42.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3945
    Cell Significance Index: -29.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4005
    Cell Significance Index: -8.5300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4634
    Cell Significance Index: -7.7600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4721
    Cell Significance Index: -53.8900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4770
    Cell Significance Index: -3.8900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.5679
    Cell Significance Index: -11.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5699
    Cell Significance Index: -59.3500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.6364
    Cell Significance Index: -5.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6903
    Cell Significance Index: -18.7900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7117
    Cell Significance Index: -56.3700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.7187
    Cell Significance Index: -16.6100
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.7280
    Cell Significance Index: -10.4700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7406
    Cell Significance Index: -10.1100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7614
    Cell Significance Index: -24.3900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7635
    Cell Significance Index: -20.0800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.8108
    Cell Significance Index: -11.9700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.8177
    Cell Significance Index: -15.9600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.8192
    Cell Significance Index: -43.0100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.8338
    Cell Significance Index: -21.3000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.9874
    Cell Significance Index: -21.6200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.0247
    Cell Significance Index: -12.2200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.0292
    Cell Significance Index: -29.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0315
    Cell Significance Index: -63.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.0611
    Cell Significance Index: -22.2100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.0676
    Cell Significance Index: -6.4500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.1488
    Cell Significance Index: -28.0300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.1626
    Cell Significance Index: -24.8500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.2317
    Cell Significance Index: -36.2800

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** 1. **Chromatin Remodeling**: The ARID1A protein is a component of the SWI/SNF complex, which is responsible for chromatin remodeling. This process involves the reorganization of chromatin structure to facilitate or inhibit gene expression. 2. **AT-Rich Motif**: The ARID1A protein contains an AT-rich motif, which is a specific sequence of nucleotides that is rich in adenine and thymine. This motif is essential for the protein's function in chromatin remodeling. 3. **Interactions with Transcription Factors**: The ARID1A protein interacts with various transcription factors, including Runx1, to regulate gene expression. 4. **Cell Type-Specific Expression**: The ARID1A gene is highly expressed in specific cell types, including astrocytes, taste receptor cells, and epithelial cells. **Pathways and Functions** 1. **Androgen Receptor Signaling Pathway**: The ARID1A protein is involved in the regulation of the androgen receptor signaling pathway, which is critical for male reproductive development and function. 2. **Brahma Complex**: The ARID1A protein is a component of the Brahma complex, which is a chromatin remodeling complex that regulates gene expression during cell cycle progression. 3. **Chromatin Organization**: The ARID1A protein plays a role in maintaining chromatin organization and structure, which is essential for gene expression regulation. 4. **Gene Expression Regulation**: The ARID1A protein regulates gene expression by modifying chromatin structure and facilitating the recruitment of transcriptional activators. 5. **Cell Differentiation**: The ARID1A protein is involved in the regulation of cell differentiation, particularly in the context of stem cell maintenance and myoblast differentiation. **Clinical Significance** 1. **Cancer**: The ARID1A gene is frequently mutated or deleted in various types of cancer, including ovarian cancer, renal cell carcinoma, and brain tumors. 2. **Neurological Disorders**: The ARID1A gene has been implicated in several neurological disorders, including autism spectrum disorder, schizophrenia, and epilepsy. 3. **Immunological Diseases**: The ARID1A gene has been linked to immunological diseases, including multiple sclerosis and rheumatoid arthritis. 4. **Metabolic Disorders**: The ARID1A gene has been implicated in metabolic disorders, including obesity and type 2 diabetes. In conclusion, the ARID1A gene plays a critical role in regulating gene expression and maintaining chromatin organization. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 1505880103

Symbol: ARI1A_HUMAN

Name: AT-rich interactive domain-containing protein 1A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11073988

Title: A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex.

PubMed ID: 11073988

DOI: 10.1128/mcb.20.23.8879-8888.2000

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 12200431

Title: Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors.

PubMed ID: 12200431

DOI: 10.1074/jbc.m205961200

PubMed ID: 11734557

Title: SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones.

PubMed ID: 11734557

DOI: 10.1074/jbc.m108702200

PubMed ID: 10757798

Title: The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity.

PubMed ID: 10757798

DOI: 10.1128/mcb.20.9.3137-3146.2000

PubMed ID: 9434167

Title: Molecular cloning and expression of a novel human cDNA containing CAG repeats.

PubMed ID: 9434167

DOI: 10.1016/s0378-1119(97)00525-8

PubMed ID: 11318604

Title: Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex.

PubMed ID: 11318604

DOI: 10.1006/geno.2001.6477

PubMed ID: 8804307

Title: Diversity and specialization of mammalian SWI/SNF complexes.

PubMed ID: 8804307

DOI: 10.1101/gad.10.17.2117

PubMed ID: 11780067

Title: Selectivity of chromatin-remodelling cofactors for ligand-activated transcription.

PubMed ID: 11780067

DOI: 10.1038/414924a

PubMed ID: 11988099

Title: Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein.

PubMed ID: 11988099

DOI: 10.1042/bj3640255

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

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: 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: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22426308

Title: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PubMed ID: 22426308

DOI: 10.1038/ng.2219

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 12672490

Title: Recent advances in understanding chromatin remodeling by SWI/SNF complexes.

PubMed ID: 12672490

DOI: 10.1016/s0959-437x(03)00022-4

PubMed ID: 12665591

Title: Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.

PubMed ID: 12665591

DOI: 10.1128/mcb.23.8.2942-2952.2003

PubMed ID: 15170388

Title: Two related ARID family proteins are alternative subunits of human SWI/SNF complexes.

PubMed ID: 15170388

DOI: 10.1042/bj20040524

PubMed ID: 18765789

Title: Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.

PubMed ID: 18765789

DOI: 10.1101/gad.471408

PubMed ID: 22952240

Title: SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.

PubMed ID: 22952240

DOI: 10.1074/jbc.r111.309302

PubMed ID: 26601204

Title: Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.

PubMed ID: 26601204

DOI: 10.1126/sciadv.1500447

PubMed ID: 26614907

Title: Identification and functional characterization of a novel bipartite nuclear localization sequence in ARID1A.

PubMed ID: 26614907

DOI: 10.1016/j.bbrc.2015.11.080

PubMed ID: 14722072

Title: Structure and DNA-binding sites of the SWI1 AT-rich interaction domain (ARID) suggest determinants for sequence-specific DNA recognition.

PubMed ID: 14722072

DOI: 10.1074/jbc.m312115200

PubMed ID: 21248752

Title: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

PubMed ID: 21248752

DOI: 10.1038/nature09639

PubMed ID: 22009941

Title: Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.

PubMed ID: 22009941

DOI: 10.1002/humu.21633

PubMed ID: 23906836

Title: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PubMed ID: 23906836

DOI: 10.1093/hmg/ddt366

Sequence Information:

  • Length: 2285
  • Mass: 242045
  • Checksum: 85BC5B6061625D8E
  • Sequence:
  • MAAQVAPAAA SSLGNPPPPP PSELKKAEQQ QREEAGGEAA AAAAAERGEM KAAAGQESEG 
    PAVGPPQPLG KELQDGAESN GGGGGGGAGS GGGPGAEPDL KNSNGNAGPR PALNNNLTEP 
    PGGGGGGSSD GVGAPPHSAA AALPPPAYGF GQPYGRSPSA VAAAAAAVFH QQHGGQQSPG 
    LAALQSGGGG GLEPYAGPQQ NSHDHGFPNH QYNSYYPNRS AYPPPAPAYA LSSPRGGTPG 
    SGAAAAAGSK PPPSSSASAS SSSSSFAQQR FGAMGGGGPS AAGGGTPQPT ATPTLNQLLT 
    SPSSARGYQG YPGGDYSGGP QDGGAGKGPA DMASQCWGAA AAAAAAAAAS GGAQQRSHHA 
    PMSPGSSGGG GQPLARTPQP SSPMDQMGKM RPQPYGGTNP YSQQQGPPSG PQQGHGYPGQ 
    PYGSQTPQRY PMTMQGRAQS AMGGLSYTQQ IPPYGQQGPS GYGQQGQTPY YNQQSPHPQQ 
    QQPPYSQQPP SQTPHAQPSY QQQPQSQPPQ LQSSQPPYSQ QPSQPPHQQS PAPYPSQQST 
    TQQHPQSQPP YSQPQAQSPY QQQQPQQPAP STLSQQAAYP QPQSQQSQQT AYSQQRFPPP 
    QELSQDSFGS QASSAPSMTS SKGGQEDMNL SLQSRPSSLP DLSGSIDDLP MGTEGALSPG 
    VSTSGISSSQ GEQSNPAQSP FSPHTSPHLP GIRGPSPSPV GSPASVAQSR SGPLSPAAVP 
    GNQMPPRPPS GQSDSIMHPS MNQSSIAQDR GYMQRNPQMP QYSSPQPGSA LSPRQPSGGQ 
    IHTGMGSYQQ NSMGSYGPQG GQYGPQGGYP RQPNYNALPN ANYPSAGMAG GINPMGAGGQ 
    MHGQPGIPPY GTLPPGRMSH ASMGNRPYGP NMANMPPQVG SGMCPPPGGM NRKTQETAVA 
    MHVAANSIQN RPPGYPNMNQ GGMMGTGPPY GQGINSMAGM INPQGPPYSM GGTMANNSAG 
    MAASPEMMGL GDVKLTPATK MNNKADGTPK TESKSKKSSS STTTNEKITK LYELGGEPER 
    KMWVDRYLAF TEEKAMGMTN LPAVGRKPLD LYRLYVSVKE IGGLTQVNKN KKWRELATNL 
    NVGTSSSAAS SLKKQYIQCL YAFECKIERG EDPPPDIFAA ADSKKSQPKI QPPSPAGSGS 
    MQGPQTPQST SSSMAEGGDL KPPTPASTPH SQIPPLPGMS RSNSVGIQDA FNDGSDSTFQ 
    KRNSMTPNPG YQPSMNTSDM MGRMSYEPNK DPYGSMRKAP GSDPFMSSGQ GPNGGMGDPY 
    SRAAGPGLGN VAMGPRQHYP YGGPYDRVRT EPGIGPEGNM STGAPQPNLM PSNPDSGMYS 
    PSRYPPQQQQ QQQQRHDSYG NQFSTQGTPS GSPFPSQQTT MYQQQQQNYK RPMDGTYGPP 
    AKRHEGEMYS VPYSTGQGQP QQQQLPPAQP QPASQQQAAQ PSPQQDVYNQ YGNAYPATAT 
    AATERRPAGG PQNQFPFQFG RDRVSAPPGT NAQQNMPPQM MGGPIQASAE VAQQGTMWQG 
    RNDMTYNYAN RQSTGSAPQG PAYHGVNRTD EMLHTDQRAN HEGSWPSHGT RQPPYGPSAP 
    VPPMTRPPPS NYQPPPSMQN HIPQVSSPAP LPRPMENRTS PSKSPFLHSG MKMQKAGPPV 
    PASHIAPAPV QPPMIRRDIT FPPGSVEATQ PVLKQRRRLT MKDIGTPEAW RVMMSLKSGL 
    LAESTWALDT INILLYDDNS IMTFNLSQLP GLLELLVEYF RRCLIEIFGI LKEYEVGDPG 
    QRTLLDPGRF SKVSSPAPME GGEEEEELLG PKLEEEEEEE VVENDEEIAF SGKDKPASEN 
    SEEKLISKFD KLPVKIVQKN DPFVVDCSDK LGRVQEFDSG LLHWRIGGGD TTEHIQTHFE 
    SKTELLPSRP HAPCPPAPRK HVTTAEGTPG TTDQEGPPPD GPPEKRITAT MDDMLSTRSS 
    TLTEDGAKSS EAIKESSKFP FGISPAQSHR NIKILEDEPH SKDETPLCTL LDWQDSLAKR 
    CVCVSNTIRS LSFVPGNDFE MSKHPGLLLI LGKLILLHHK HPERKQAPLT YEKEEEQDQG 
    VSCNKVEWWW DCLEMLRENT LVTLANISGQ LDLSPYPESI CLPVLDGLLH WAVCPSAEAQ 
    DPFSTLGPNA VLSPQRLVLE TLSKLSIQDN NVDLILATPP FSRLEKLYST MVRFLSDRKN 
    PVCREMAVVL LANLAQGDSL AARAIAVQKG SIGNLLGFLE DSLAATQFQQ SQASLLHMQN 
    PPFEPTSVDM MRRAARALLA LAKVDENHSE FTLYESRLLD ISVSPLMNSL VSQVICDVLF 
    LIGQS

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.