AutismKB 2.0

Annotation Detail for FAM83A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM83A ( BJ-TSA-9,MGC14128 )
Gene Full Name: family with sequence similarity 83, member A
Band: 8q24.13
Quick LinksEntrez ID:84985; OMIM: NA; Uniprot ID:FA83A_HUMAN; ENSEMBL ID: ENSG00000147689; HGNC ID: 28210
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
348Phosphoserine.
352Phosphoserine.
353Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
55PhosphoserineHMM predict
99Phosphoserine(CK1)HMM predict
113Phosphoserine(CK1)HMM predict
320Phosphoserine(PKG)HMM predict
323Phosphoserine(CK2)HMM predict
332Phosphoserine(PKB)HMM predict
336O-linkedHMM predict
339O-linkedHMM predict
348Phosphoserine(IKK)HMM predict
350Phosphoserine(PKB)HMM predict
350Phosphoserine(PKG)HMM predict
350O-linkedHMM predict
352O-linkedHMM predict
353O-linkedHMM predict
357Phosphoserine(CDC2)HMM predict
357Phosphoserine(MAPK)HMM predict
357Phosphoserine(ATM)HMM predict
380O-linkedHMM predict
380Phosphoserine(CDC2)HMM predict
386Phosphoserine(ATM)HMM predict
386PhosphoserineHMM predict
386O-linkedHMM predict
421Phosphothreonine(MAPK)HMM predict
422ProlineHMM predict
426ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032899
  • Location:chr8 124263932-124290385
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 124255100 124255276 176 8745
FOXA1 MCF7GSE15244 124255619 124256101 482 8073
FOXA1 MCF7GSE15244 124261076 124261239 163 2775
FOXA1 MCF7GSE15244 124263326 124264396 1070 72
FoxA1 MCF7MACSdata 124254420 124254730 310 9358
GATA3 MCF7GSE15244 124248370 124249960 1590 14768
Gata2 K562GSE18868 124248557 124249467 910 14921
Gata2 K562GSE18868 124262997 124264377 1380 246
NRSF pAbJurkat 124250371 124250549 178 13473
NRSF pAbJurkat 124258759 124258969 210 5069
P300 T30-glioblastomaGSE21026 124248511 124249632 1121 14861
RARA MCF7GSE15244 124248441 124250449 2008 14488
RARA MCF7GSE15244 124255619 124256224 605 8011
RARA MCF7GSE15244 124259583 124260416 833 3933
RARA MCF7GSE15244 124261076 124261686 610 2552
RARA MCF7GSE15244 124262682 124262899 217 1142
RARA MCF7GSE15244 124263326 124264484 1158 28
RARG MCF7GSE15244 124248370 124250549 2179 14473
RARG MCF7GSE15244 124255619 124256442 823 7902
RARG MCF7GSE15244 124259583 124260416 833 3933
RARG MCF7GSE15244 124261076 124261546 470 2622
RARG MCF7GSE15244 124262682 124262899 217 1142
TFAP2C MCF7GSE21234 124262412 124264399 1987 527
hScc1 BcellGSE12603 124250346 124250549 203 13485
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 124264905 124264943 38 0
Fos K562GSE19551 124272240 124272745 505 0
Gata1 K562GSE18868 124263537 124264459 922 0
NRSF pAbJurkat 124288599 124289164 565 0
Oct1 HelaGSE14283 124264894 124264951 57 0
RARG MCF7GSE15244 124263326 124264922 1596 0
RARG MCF7GSE15244 124265602 124266520 918 0
RNAII Tamoxifen-MCF7GSE14664 124276981 124277065 84 0
RNAII Tamoxifen-MCF7GSE14664 124284954 124285050 96 0
RNAII Tamoxifen-MCF7GSE14664 124286333 124286421 88 0
TFAP2C MCF7GSE21234 124266269 124267136 867 0
hScc1 BcellGSE12603 124288717 124289196 479 0
p130 shRbSenescentGSE19898 124270475 124270612 137 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