AutismKB 2.0

Annotation Detail for SH2D4A


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Basic Information Top
Gene Symbol:SH2D4A ( FLJ20967,SH2A )
Gene Full Name: SH2 domain containing 4A
Band: 8p21.3
Quick LinksEntrez ID:63898; OMIM: NA; Uniprot ID:SH24A_HUMAN; ENSEMBL ID: ENSG00000104611; HGNC ID: 26102
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
69N6-acetyllysine.
131Phosphotyrosine.
315Phosphoserine.
Location(AA) Modifications Resource
315Phosphoserine.Swiss-Prot 53.0
315PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
10Phosphotyrosine(Syk)HMM predict
10Phosphotyrosine(Jak)HMM predict
51Phosphoserine(PKA)HMM predict
51Phosphoserine(PKG)HMM predict
116Phosphothreonine(CK2)HMM predict
164Phosphothreonine(PKC)HMM predict
172Phosphoserine(CK1)HMM predict
175Phosphoserine(CDC2)HMM predict
176Phosphoserine(CDC2)HMM predict
248Phosphoserine(PKG)HMM predict
257Phosphotyrosine(Syk)HMM predict
268MethylarginineHMM predict
275Phosphoserine(CDK)HMM predict
275Phosphoserine(CDC2)HMM predict
300Phosphotyrosine(EGFR)HMM predict
315Phosphoserine(CK1)HMM predict
353Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022071
  • Location:chr8 19215486-19297593
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 19214420 19214964 544 795
hScc1 BcellGSE12603 19215164 19215512 348 149
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19273879 19274224 345 0
CTCF CD4SISSRdata 19273879 19274224 345 0
CTCF G2GSE9613 19215228 19216329 1101 0
CTCF G2GSE9613 19235775 19235988 213 0
CTCF G2GSE9613 19248465 19248678 213 0
CTCF G2GSE9613 19274211 19274428 217 0
CTCF G2GSE9613 19277665 19277840 175 0
FOXA1 DLD1GSE12801 19246814 19247702 888 0
FOXA1 MCF7GSE15244 19228858 19229167 309 0
FOXA1 MCF7GSE15244 19246814 19247477 663 0
Fos K562GSE19551 19287659 19288098 439 0
FoxA1 MCF7MACSdata 19247186 19247372 186 0
NRSF pAbJurkat 19215228 19216464 1236 0
PHF8 HeLaGSE20725 19214822 19216518 1696 0
RARA MCF7GSE15244 19228858 19229422 564 0
RARA MCF7GSE15244 19232758 19233163 405 0
RARG MCF7GSE15244 19228858 19229167 309 0
STAT1 HeLaGSE12783 19287315 19288752 1437 0
TFAP2C MCF7GSE21234 19228462 19229065 603 0
VDR GM10855-stimGSE22484 19219676 19221491 1815 0
hScc1 BcellGSE12603 19274211 19274534 323 0
hScc1 CdLSGSE12603 19215481 19216329 848 0
hScc1 CdLSGSE12603 19274211 19274465 254 0
hScc1 G2GSE9613 19215633 19216251 618 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
117 Unknown MicroArray miR-1 SH2D4A n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000104611 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
25133 mRNA SH2D4A chr8 19215486 19297594 530 EST chr8 19276764 19277294 Non-exonic Bidirectional (NOB) pairs

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