AutismKB 2.0

Annotation Detail for FAM40A


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Basic Information Top
Gene Symbol:FAM40A ( FLJ14743,KIAA1761,MGC148091,RP4-773N10.1 )
Gene Full Name: family with sequence similarity 40, member A
Band: 1p13.3
Quick LinksEntrez ID:85369; OMIM: NA; Uniprot ID:FA40A_HUMAN; ENSEMBL ID: ENSG00000143093; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
59Phosphoserine (By similarity).
335Phosphoserine.
560Phosphoserine (By similarity).
831Phosphoserine (By similarity).
Location(AA) Modifications Resource
335Phosphoserine.Swiss-Prot 53.0
335PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
62Phosphotyrosine(Syk)HMM predict
62Phosphotyrosine(Jak)HMM predict
65Phosphoserine(ATM)HMM predict
72Phosphotyrosine(Jak)HMM predict
72Phosphotyrosine(Syk)HMM predict
88SulfotyrosineHMM predict
243Phosphothreonine(PKC)HMM predict
335Phosphoserine(PKA)HMM predict
335Phosphoserine(IKK)HMM predict
373Phosphotyrosine(Syk)HMM predict
378Phosphoserine(CK2)HMM predict
390Phosphoserine(CK1)HMM predict
475Phosphotyrosine(INSR)HMM predict
476Phosphothreonine(PKA)HMM predict
534Phosphothreonine(PKC)HMM predict
535O-linkedHMM predict
630Phosphoserine(PKG)HMM predict
831PhosphoserineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033088
  • Location:chr1 110378763-110398777
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 110373801 110374031 230 4848
CTCF CD4SISSRdata 110373801 110374031 230 4848
CTCF HelaGSE12889 110373793 110374010 217 4862
CTCF G2GSE9613 110373790 110374045 255 4846
ETS1 JurkatGSE17954 110378043 110379291 1248 97
P300 T0-glioblastomaGSE21026 110378279 110379230 951 9
P300 T30-glioblastomaGSE21026 110378072 110379392 1320 32
RARA MCF7GSE15244 110378239 110378668 429 310
TAF k562GSE8489 110378239 110378772 533 258
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 110397962 110398300 338 0
CTCF CD4SISSRdata 110397962 110398300 338 0
CTCF HelaGSE12889 110397937 110398284 347 0
CTCF G2GSE9613 110378705 110379082 377 0
CTCF G2GSE9613 110397709 110398333 624 0
H3K4me2 HCT116GSE10453 110379439 110380003 564 0
H3K4me3 colorectalcancer 110379508 110380290 782 0
H3ac HepG2E 110379157 110380290 1133 0
Myc hESGSE17917 110378634 110379013 379 0
Oct1 H2O2-HelaGSE14283 110395554 110395583 29 0
Oct1 HelaGSE14283 110395554 110395594 40 0
RARA MCF7GSE15244 110379577 110380290 713 0
hScc1 BcellGSE12603 110397709 110398524 815 0
hScc1 CdLSGSE12603 110397925 110398561 636 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