AutismKB 2.0

Annotation Detail for FAM8A1


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Basic Information Top
Gene Symbol:FAM8A1 ( AHCP,FLJ23721 )
Gene Full Name: family with sequence similarity 8, member A1
Band: 6p22.3
Quick LinksEntrez ID:51439; OMIM: NA; Uniprot ID:FA8A1_HUMAN; ENSEMBL ID: ENSG00000137414; HGNC ID: 16372
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
229Phosphoserine.
233Phosphothreonine.
Location(AA) Modifications Resource
233Phosphothreonine.Swiss-Prot 53.0
233PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
9MethylarginineHMM predict
27O-linkedHMM predict
109Phosphoserine(PKG)HMM predict
143Phosphoserine(CDK)HMM predict
150Phosphoserine(IKK)HMM predict
153O-linkedHMM predict
171Phosphotyrosine(Syk)HMM predict
194O-linkedHMM predict
195O-linkedHMM predict
227O-linkedHMM predict
229Phosphoserine(ATM)HMM predict
229Phosphoserine(CDC2)HMM predict
229Phosphoserine(CDK)HMM predict
231Phosphoserine(CK1)HMM predict
330Phosphothreonine(MAPK)HMM predict
363O-linkedHMM predict
363O-linkedHMM predict
363Phosphoserine(IKK)HMM predict
368O-linkedHMM predict
394N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016255
  • Location:chr6 17708564-17719927
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17692172 17693007 835 15975
CTCF G2GSE9613 17694085 17694432 347 14306
GABP k562GSE8489 17707622 17708312 690 598
H3ac HepG2E 17707622 17708251 629 628
Oct1 H2O2-HelaGSE14283 17694364 17694398 34 14184
Oct1 HelaGSE14283 17694365 17694398 33 14183
hScc1 BcellGSE12603 17692244 17692815 571 16035
hScc1 CdLSGSE12603 17692101 17693118 1017 15955
hScc1 G2GSE9613 17692019 17693007 988 16052
p130 QuiescentGSE19898 17697653 17697880 227 10798
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17708251 17709384 1133 0
H3K4me3 colorectalcancer 17709263 17709755 492 0
H3ac HepG2E 17709263 17710220 957 0
H3ac HepG2E 17710560 17710990 430 0
TAF k562GSE8489 17709490 17709880 390 0
hScc1 BcellGSE12603 17708275 17709161 886 0
hScc1 G2GSE9613 17708179 17709634 1455 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


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