AutismKB 2.0

Annotation Detail for SGCA


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Basic Information Top
Gene Symbol:SGCA ( 50-DAG,A2,ADL,DAG2,DMDA2,LGMD2D,SCARMD1,adhalin )
Gene Full Name: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Band: 17q21.33
Quick LinksEntrez ID:6442; OMIM: 600119; Uniprot ID:SGCA_HUMAN; ENSEMBL ID: ENSG00000108823; HGNC ID: 10805
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
174N-linked (GlcNAc...) (Potential).
246N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
174N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
246N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
26Phosphothreonine(PKC)HMM predict
152Phosphothreonine(MAPK)HMM predict
174N-linkedHMM predict
204Phosphoserine(CDK)HMM predict
204Phosphoserine(CDC2)HMM predict
246N-linkedHMM predict
253Phosphoserine(IKK)HMM predict
358Phosphoserine(PKG)HMM predict
358Phosphoserine(IKK)HMM predict
375ValineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000023
  • Location:chr17 45598389-45608287
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45593771 45594223 452 4393
CTCF CD4SISSRdata 45593771 45594223 452 4393
CTCF G2GSE9613 45593733 45594552 819 4247
CTCF G2GSE9613 45597599 45598094 495 543
ER MCF7GSE19013 45596371 45597395 1024 1507
PHF8 293TGSE20725 45593325 45594227 902 4614
Rb GrowingGSE19898 45593542 45593738 196 4750
TFAP2C MCF7GSE21234 45596357 45596953 596 1735
hScc1 BcellGSE12603 45593762 45594173 411 4422
hScc1 CdLSGSE12603 45593565 45594494 929 4360
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45610769 45611006 237 2600
CTCF CD4SISSRdata 45610769 45611006 237 2600
CTCF G2GSE9613 45610395 45610894 499 2357
Myc K562GSE19551 45610598 45611033 435 2528
PHF8 HeLaGSE20725 45610010 45611269 1259 2352
TFAP2C MCF7GSE21234 45610383 45611509 1126 2659
hScc1 BcellGSE12603 45609325 45609720 395 1235
hScc1 BcellGSE12603 45610366 45611078 712 2435
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45601704 45601927 223 0
CTCF CD4SISSRdata 45601704 45601927 223 0
CTCF G2GSE9613 45601422 45602432 1010 0
CTCF G2GSE9613 45607460 45607897 437 0
Myc K562GSE19551 45601677 45602050 373 0
Rb SenescentGSE19898 45601733 45602013 280 0
TFAP2C MCF7GSE21234 45601491 45601977 486 0
VDR GM10861-stimGSE22484 45601440 45602281 841 0
hScc1 BcellGSE12603 45601246 45602474 1228 0
hScc1 CdLSGSE12603 45601524 45602141 617 0
hScc1 G2GSE9613 45601524 45602141 617 0
Validated miRNA targets Top
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
11364 mRNA SGCA chr17 45598389 45608288 1027 mRNA HILS1 chr17 45603809 45604836 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


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