AutismKB 2.0

Annotation Detail for FAM46C


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Basic Information Top
Gene Symbol:FAM46C ( FLJ20202 )
Gene Full Name: family with sequence similarity 46, member C
Band: 1p12
Quick LinksEntrez ID:54855; OMIM: NA; Uniprot ID:FA46C_HUMAN; ENSEMBL ID: ENSG00000183508; HGNC ID: 24712
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
54Phosphothreonine(PKC)HMM predict
72N-linkedHMM predict
130Phosphoserine(CDC2)HMM predict
216Phosphotyrosine(SRC)HMM predict
216Phosphotyrosine(EGFR)HMM predict
265Phosphothreonine(PKC)HMM predict
302Phosphoserine(CK1)HMM predict
315N-linkedHMM predict
329Phosphothreonine(PKC)HMM predict
329Phosphothreonine(PKA)HMM predict
352N-linkedHMM predict
354O-linkedHMM predict
367N-linkedHMM predict
370N-linkedHMM predict
372Phosphotyrosine(EGFR)HMM predict
380Phosphotyrosine(SRC)HMM predict
380Phosphotyrosine(Abl)HMM predict
381Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017709
  • Location:chr1 117950126-117972532
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 117949424 117949719 295 555
FOXA1 MCF7GSE15244 117934547 117935030 483 15338
FOXA1 MCF7GSE15244 117935380 117936683 1303 14095
RARA MCF7GSE15244 117934371 117935030 659 15426
RARA MCF7GSE15244 117935380 117936489 1109 14192
RARG MCF7GSE15244 117934443 117935030 587 15390
TFAP2C MCF7GSE21234 117934353 117935275 922 15313
TFAP2C MCF7GSE21234 117935284 117936817 1533 14076
TFAP2C MCF7GSE21234 117949158 117950542 1384 277
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 117975164 117977172 2008 3636
VDR GM10861-stimGSE22484 117975202 117978381 3179 4259
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 117956307 117961493 5186 0
FOXA1 MCF7GSE15244 117971054 117972293 1239 0
Gata2 K562GSE18868 117956518 117959103 2585 0
H3K4me3 colorectalcancer 117952190 117952619 429 0
Oct1 HelaGSE14283 117956553 117956584 31 0
RARA MCF7GSE15244 117957013 117957419 406 0
STAT1 HeLaGSE12783 117955917 117958693 2776 0
hScc1 BcellGSE12603 117949460 117950996 1536 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