AutismKB 2.0

Annotation Detail for ESYT1


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Basic Information Top
Gene Symbol:ESYT1 ( FAM62A,KIAA0747,MBC2 )
Gene Full Name: extended synaptotagmin-like protein 1
Band: 12q13.2
Quick LinksEntrez ID:23344; OMIM: NA; Uniprot ID:ESYT1_HUMAN; ENSEMBL ID: ENSG00000139641; HGNC ID: 29534
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
817N6-acetyllysine.
822Phosphotyrosine.
963Phosphoserine.
1009Phosphotyrosine.
1034Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015292
  • Location:chr12 54808320-54824718
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54806142 54806663 521 1918
ETS1 JurkatGSE17954 54806073 54806747 674 1911
FOXA1 MCF7GSE15244 54806142 54806734 592 1883
FoxA1 MCF7MACSdata 54806305 54806477 172 1930
H3ac HepG2E 54806981 54809266 2285 197
RARG MCF7GSE15244 54807653 54808811 1158 89
Rb GrowingGSE19898 54807787 54808267 480 294
Rb QuiescentGSE19898 54807700 54808321 621 310
Rb SenescentGSE19898 54807852 54808586 734 102
Rb shRbQuiescentGSE19898 54807894 54808299 405 224
Rb shRbSenescenceGSE19898 54807969 54808272 303 200
TAF HelaGSE8489 54806873 54807379 506 1195
TAF k562GSE8489 54806441 54808221 1780 990
USF1 HepG2E 54806981 54808270 1289 695
USF2 HepG2E 54807620 54808221 601 400
hScc1 CdLSGSE12603 54806142 54806546 404 1977
p130 QuiescentGSE19898 54807883 54808396 513 181
p130 SenescentGSE19898 54807757 54808502 745 191
p130 shRbQuiescentGSE19898 54807774 54808323 549 272
p130 shRbSenescentGSE19898 54807859 54808365 506 209
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54808190 54809556 1366 0
CTCF G2GSE9613 54814049 54814190 141 0
CTCF G2GSE9613 54823041 54823417 376 0
FOXA1 MCF7GSE15244 54807736 54809588 1852 0
H3ac HepG2E 54809619 54809943 324 0
H3ac HepG2E 54810277 54811197 920 0
Rb SenescentGSE19898 54808747 54809017 270 0
Rb shRbSenescenceGSE19898 54810316 54810483 167 0
TFAP2C MCF7GSE21234 54807846 54808911 1065 0
hScc1 BcellGSE12603 54809017 54809556 539 0
hScc1 G2GSE9613 54808921 54809588 667 0
p130 shRbQuiescentGSE19898 54808582 54809134 552 0
p130 shRbSenescentGSE19898 54808452 54808648 196 0
p130 shRbSenescentGSE19898 54808732 54808963 231 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018