Details for: AHDC1
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: 211.5140
Cell Significance Index: -32.9000 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 123.2636
Cell Significance Index: -31.2700 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 69.2405
Cell Significance Index: -32.6900 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 64.9096
Cell Significance Index: -26.3700 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 27.6200
Cell Significance Index: -26.3700 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 26.7974
Cell Significance Index: -33.0400 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 11.6281
Cell Significance Index: -31.1500 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 8.6494
Cell Significance Index: -18.9300 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 8.3831
Cell Significance Index: -33.0800 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 7.9409
Cell Significance Index: -24.3900 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 2.7423
Cell Significance Index: 73.4800 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 1.5544
Cell Significance Index: 43.4400 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.4022
Cell Significance Index: 281.2800 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.9925
Cell Significance Index: 356.0000 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.7352
Cell Significance Index: 56.4200 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.7088
Cell Significance Index: 18.2200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.6397
Cell Significance Index: 33.3200 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.5516
Cell Significance Index: 24.4000 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.5479
Cell Significance Index: 35.3500 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.5271
Cell Significance Index: 364.5700 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.4909
Cell Significance Index: 18.5900 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.4755
Cell Significance Index: 24.7000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4748
Cell Significance Index: 21.5200 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.4201
Cell Significance Index: 83.3600 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.4099
Cell Significance Index: 181.2200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.4046
Cell Significance Index: 55.5700 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3771
Cell Significance Index: 10.8700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.3485
Cell Significance Index: 18.3000 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.3191
Cell Significance Index: 288.1400 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2505
Cell Significance Index: 47.6700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.2339
Cell Significance Index: 15.7300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2253
Cell Significance Index: 4.8800 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.2241
Cell Significance Index: 22.1700 - Cell Name: basal cell of epidermis (CL0002187)
Fold Change: 0.2225
Cell Significance Index: 3.3800 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1777
Cell Significance Index: 21.8600 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 0.1723
Cell Significance Index: 8.1000 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.1672
Cell Significance Index: 91.2900 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.1613
Cell Significance Index: 26.2400 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 0.1552
Cell Significance Index: 1.0300 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1337
Cell Significance Index: 24.1100 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.1320
Cell Significance Index: 2.8900 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.1225
Cell Significance Index: 2.1000 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 0.1195
Cell Significance Index: 3.4100 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0966
Cell Significance Index: 6.8300 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0909
Cell Significance Index: 167.7300 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.0736
Cell Significance Index: 8.0100 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0604
Cell Significance Index: 113.7600 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.0474
Cell Significance Index: 6.1300 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.0451
Cell Significance Index: 2.7800 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0415
Cell Significance Index: 56.3900 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0326
Cell Significance Index: 50.1300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0246
Cell Significance Index: 15.6100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0229
Cell Significance Index: 0.8100 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.0134
Cell Significance Index: 1.0000 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0118
Cell Significance Index: 5.3600 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0007
Cell Significance Index: 0.1200 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0027
Cell Significance Index: -1.9800 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: -0.0044
Cell Significance Index: -0.0500 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0068
Cell Significance Index: -5.0300 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0089
Cell Significance Index: -1.3000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0191
Cell Significance Index: -11.9000 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0302
Cell Significance Index: -0.5900 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0422
Cell Significance Index: -31.9100 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0425
Cell Significance Index: -23.9800 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0457
Cell Significance Index: -5.2400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0463
Cell Significance Index: -2.6000 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.0475
Cell Significance Index: -2.8500 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.0769
Cell Significance Index: -8.7800 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.0821
Cell Significance Index: -5.6800 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.0834
Cell Significance Index: -10.6900 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0862
Cell Significance Index: -18.1600 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0995
Cell Significance Index: -28.6300 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1210
Cell Significance Index: -12.3600 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1488
Cell Significance Index: -17.3400 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.1686
Cell Significance Index: -7.8600 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.1796
Cell Significance Index: -3.0100 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.2146
Cell Significance Index: -5.8400 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.2162
Cell Significance Index: -2.9500 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.2215
Cell Significance Index: -26.1200 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2656
Cell Significance Index: -27.6600 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.2745
Cell Significance Index: -5.7000 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.3262
Cell Significance Index: -9.3500 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.3333
Cell Significance Index: -26.4000 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.3367
Cell Significance Index: -11.7000 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3468
Cell Significance Index: -9.1200 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: -0.3723
Cell Significance Index: -2.8700 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.3728
Cell Significance Index: -22.8600 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.3940
Cell Significance Index: -9.4500 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.4324
Cell Significance Index: -10.8100 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.4719
Cell Significance Index: -12.6000 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.4755
Cell Significance Index: -29.9700 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.4811
Cell Significance Index: -6.8900 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.4850
Cell Significance Index: -24.5100 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.5066
Cell Significance Index: -12.3600 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: -0.5073
Cell Significance Index: -7.4900 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.5093
Cell Significance Index: -10.6600 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: -0.5191
Cell Significance Index: -7.4600 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.5240
Cell Significance Index: -16.6900 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5385
Cell Significance Index: -17.6300 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.5413
Cell Significance Index: -11.5700
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.
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.
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
Genular Protein ID: 377094437
Symbol: AHDC1_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 9110174
PubMed ID: 17081983
Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
PubMed ID: 17081983
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
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
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24791903
Title: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
PubMed ID: 24791903
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 24129315
Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
PubMed ID: 24129315
PubMed ID: 29230160
Title: Whole-exome sequencing identifies a de novo AHDC1 mutation in a colombian patient with Xia-Gibbs syndrome.
PubMed ID: 29230160
DOI: 10.1159/000479357
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: 31182893
Title: Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.
PubMed ID: 31182893
PubMed ID: 27148574
Title: De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
PubMed ID: 27148574
DOI: 10.1101/mcs.a000562
PubMed ID: 29696776
PubMed ID: 30152016
Title: Variable clinical manifestations of Xia-Gibbs syndrome: findings of consecutively identified cases at a single children's hospital.
PubMed ID: 30152016
DOI: 10.1002/ajmg.a.40380
PubMed ID: 30622101
Title: Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
PubMed ID: 30622101
DOI: 10.1101/mcs.a003608
PubMed ID: 30729726
Title: Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
PubMed ID: 30729726
DOI: 10.1002/mgg3.596
PubMed ID: 30858058
Title: Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.
PubMed ID: 30858058
PubMed ID: 32256298
Title: Novel AHDC1 gene mutation in a brazilian individual: implications of Xia-Gibbs syndrome.
PubMed ID: 32256298
DOI: 10.1159/000505843
PubMed ID: 34229113
Title: Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
PubMed ID: 34229113
PubMed ID: 34950897
Title: AHDC1 missense mutations in Xia-Gibbs syndrome.
PubMed ID: 34950897
PubMed ID: 33644933
Title: Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
PubMed ID: 33644933
DOI: 10.1002/humu.24190
PubMed ID: 35585237
Title: Gibbin mesodermal regulation patterns epithelial development.
PubMed ID: 35585237
Sequence Information:
- Length: 1603
- Mass: 168349
- Checksum: 2BAC8DC14836F493
- Sequence:
MRVKPQGLVV TSSAVCSSPD YLREPKYYPG GPPTPRPLLP TRPPASPPDK AFSTHAFSEN PRPPPRRDPS TRRPPVLAKG DDPLPPRAAR PVSQARCPTP VGDGSSSRRC WDNGRVNLRP VVQLIDIMKD LTRLSQDLQH SGVHLDCGGL RLSRPPAPPP GDLQYSFFSS PSLANSIRSP EERATPHAKS ERPSHPLYEP EPEPRDSPQP GQGHSPGATA AATGLPPEPE PDSTDYSELA DADILSELAS LTCPEAQLLE AQALEPPSPE PEPQLLDPQP RFLDPQALEP LGEALELPPL QPLADPLGLP GLALQALDTL PDSLESQLLD PQALDPLPKL LDVPGRRLEP QQPLGHCPLA EPLRLDLCSP HGPPGPEGHP KYALRRTDRP KILCRRRKAG RGRKADAGPE GRLLPLPMPT GLVAALAEPP PPPPPPPPAL PGPGPVSVPE LKPESSQTPV VSTRKGKCRG VRRMVVKMAK IPVSLGRRNK TTYKVSSLSS SLSVEGKELG LRVSAEPTPL LKMKNNGRNV VVVFPPGEMP IILKRKRGRP PKNLLLGPGK PKEPAVVAAE AATVAAATMA MPEVKKRRRR KQKLASPQPS YAADANDSKA EYSDVLAKLA FLNRQSQCAG RCSPPRCWTP SEPESVHQAP DTQSISHFLH RVQGFRRRGG KAGGFGGRGG GHAAKSARCS FSDFFEGIGK KKKVVAVAAA GVGGPGLTEL GHPRKRGRGE VDAVTGKPKR KRRSRKNGTL FPEQVPSGPG FGEAGAEWAG DKGGGWAPHH GHPGGQAGRN CGFQGTEARA FASTGLESGA SGRGSYYSTG APSGQTELSQ ERQNLFTGYF RSLLDSDDSS DLLDFALSAS RPESRKASGT YAGPPTSALP AQRGLATFPS RGAKASPVAV GSSGAGADPS FQPVLSARQT FPPGRAASYG LTPAASDCRA AETFPKLVPP PSAMARSPTT HPPANTYLPQ YGGYGAGQSV FAPTKPFTGQ DCANSKDCSF AYGSGNSLPA SPSSAHSAGY APPPTGGPCL PPSKASFFSS SEGAPFSGSA PTPLRCDSRA STVSPGGYMV PKGTTASATS AASAASSSSS SFQPSPENCR QFAGASQWPF RQGYGGLDWA SEAFSQLYNP SFDCHVSEPN VILDISNYTP QKVKQQTAVS ETFSESSSDS TQFNQPVGGG GFRRANSEAS SSEGQSSLSS LEKLMMDWNE ASSAPGYNWN QSVLFQSSSK PGRGRRKKVD LFEASHLGFP TSASAAASGY PSKRSTGPRQ PRGGRGGGAC SAKKERGGAA AKAKFIPKPQ PVNPLFQDSP DLGLDYYSGD SSMSPLPSQS RAFGVGERDP CDFIGPYSMN PSTPSDGTFG QGFHCDSPSL GAPELDGKHF PPLAHPPTVF DAGLQKAYSP TCSPTLGFKE ELRPPPTKLA ACEPLKHGLQ GASLGHAAAA QAHLSCRDLP LGQPHYDSPS CKGTAYWYPP GSAARSPPYE GKVGTGLLAD FLGRTEAACL SAPHLASPPA TPKADKEPLE MARPPGPPRG PAAAAAGYGC PLLSDLTLSP VPRDSLLPLQ DTAYRYPGFM PQAHPGLGGG PKSGFLGPMA EPHPEDTFTV TSL
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.