AutismKB 2.0

Annotation Detail for FAM134A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM134A ( C2orf17,DKFZp686C2379,MGC3035 )
Gene Full Name: family with sequence similarity 134, member A
Band: 2q35
Quick LinksEntrez ID:79137; OMIM: NA; Uniprot ID:F134A_HUMAN; ENSEMBL ID: ENSG00000144567; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
279Phosphothreonine.
281Phosphoserine.
283Phosphoserine.
306Phosphothreonine.
308Phosphoserine.
311Phosphoserine.
344Phosphoserine.
347Phosphoserine.
385Phosphoserine.
Location(AA) Modifications Resource
279Phosphothreonine.Swiss-Prot 53.0
279PhosphothreoninePhospho.ELM 6.0
281Phosphoserine.Swiss-Prot 53.0
281PhosphoserinePhospho.ELM 6.0
283Phosphoserine.Swiss-Prot 53.0
283PhosphoserinePhospho.ELM 6.0
306Phosphothreonine.Swiss-Prot 53.0
308Phosphoserine.Swiss-Prot 53.0
311Phosphoserine.Swiss-Prot 53.0
385Phosphoserine.Swiss-Prot 53.0
385PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
37Phosphoserine(CK2)HMM predict
99Phosphoserine(CDC2)HMM predict
132Phosphoserine(CDC2)HMM predict
132Phosphoserine(CDK)HMM predict
138Phosphoserine(CK2)HMM predict
138Phosphoserine(ATM)HMM predict
138Phosphoserine(CK1)HMM predict
281Phosphoserine(CK1)HMM predict
283Phosphoserine(CK2)HMM predict
311Phosphoserine(CK2)HMM predict
311Phosphoserine(CK1)HMM predict
316Phosphoserine(CK1)HMM predict
326O-linkedHMM predict
330Phosphothreonine(CDK)HMM predict
330PhosphothreonineHMM predict
347Phosphoserine(CK1)HMM predict
385Phosphoserine(CK2)HMM predict
417Phosphoserine(CDK)HMM predict
425Phosphoserine(CDC2)HMM predict
463Phosphoserine(CDC2)HMM predict
463O-linkedHMM predict
465O-linkedHMM predict
489Phosphothreonine(PKC)HMM predict
513Phosphothreonine(CDC2)HMM predict
529Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024293
  • Location:chr2 219751197-219756455
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 219750375 219751097 722 462
Fos K562GSE19551 219750519 219751368 849 254
H3ac HepG2E 219750412 219750990 578 497
HIF1 NormHepG2 219750741 219751410 669 122
PHF8 293TGSE20725 219750626 219751563 937 103
PHF8 Hs68plusFBSGSE20725 219749401 219751951 2550 522
TAF k562GSE8489 219750412 219750806 394 589
USF1 HepG2E 219750339 219751214 875 421
USF2 HepG2E 219750375 219751157 782 432
p130 QuiescentGSE19898 219751033 219751228 195 67
p130 SenescentGSE19898 219751125 219751258 133 6
p130 shRbQuiescentGSE19898 219750006 219751253 1247 568
p130 shRbSenescentGSE19898 219750733 219751269 536 197
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 219756798 219757003 205 445
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 219750887 219751707 820 0
CTCF G2GSE9613 219754816 219755146 330 0
CTCF G2GSE9613 219755458 219755763 305 0
H3ac HepG2E 219751630 219753092 1462 0
HIF1 HypoHepG2 219750741 219751707 966 0
USF1 HepG2E 219751549 219755182 3633 0
USF2 HepG2E 219751667 219752143 476 0
hScc1 BcellGSE12603 219750953 219751517 564 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved