AutismKB 2.0

Annotation Detail for SPTA1


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Basic Information Top
Gene Symbol:SPTA1 ( EL2,HPP,HS3,SPH3,SPTA )
Gene Full Name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Band: 1q23.1
Quick LinksEntrez ID:6708; OMIM: 182860; Uniprot ID:SPTA1_HUMAN; ENSEMBL ID: ENSG00000163554; HGNC ID: 11272
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8Phosphothreonine(PKC)HMM predict
81Phosphotyrosine(Syk)HMM predict
103Phosphothreonine(PKC)HMM predict
120Phosphothreonine(PKC)HMM predict
182Phosphothreonine(PKC)HMM predict
331Phosphothreonine(PKC)HMM predict
377Phosphoserine(PKB)HMM predict
377Phosphoserine(CK2)HMM predict
428Phosphoserine(CK2)HMM predict
457N-linkedHMM predict
548Phosphotyrosine(INSR)HMM predict
573Phosphothreonine(PKC)HMM predict
610Phosphotyrosine(INSR)HMM predict
610SulfotyrosineHMM predict
610Phosphotyrosine(Syk)HMM predict
633N-linkedHMM predict
639N-linkedHMM predict
657N-linkedHMM predict
681Phosphothreonine(PKA)HMM predict
784Phosphothreonine(PKC)HMM predict
802Phosphothreonine(CK2)HMM predict
817O-linkedHMM predict
992Phosphoserine(CDC2)HMM predict
1052N-linkedHMM predict
1250Phosphoserine(CK1)HMM predict
1284Phosphoserine(PKG)HMM predict
1424Phosphoserine(IKK)HMM predict
1425Phosphoserine(CK1)HMM predict
1428Phosphoserine(CK1)HMM predict
1466Phosphotyrosine(Syk)HMM predict
1466Phosphotyrosine(Jak)HMM predict
1499Phosphotyrosine(INSR)HMM predict
1506Phosphotyrosine(Syk)HMM predict
1506Phosphotyrosine(EGFR)HMM predict
1538Phosphotyrosine(Jak)HMM predict
1612N-linkedHMM predict
1927SulfotyrosineHMM predict
1927Phosphotyrosine(Syk)HMM predict
1949Phosphoserine(CK1)HMM predict
2064N-linkedHMM predict
2066Phosphoserine(ATM)HMM predict
2066Phosphoserine(CK1)HMM predict
2164N-linkedHMM predict
2213Phosphothreonine(PKA)HMM predict
2285N-linkedHMM predict
2332Phosphotyrosine(Jak)HMM predict
2332Phosphotyrosine(INSR)HMM predict
2369Phosphotyrosine(INSR)HMM predict
2380Phosphothreonine(MAPK)HMM predict
2385Phosphoserine(IKK)HMM predict
2412ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003126
  • Location:chr1 156847119-156923129
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 156925566 156925911 345 2609
Gata2 K562GSE18868 156928253 156928716 463 5355
Oct1 HelaGSE14283 156927536 156927600 64 4439
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 156860758 156860794 36 0
ER E2-MCF7GSE14664 156861560 156861612 52 0
ER E2-MCF7GSE14664 156874021 156874090 69 0
ER Fulvestrant-MCF7GSE14664 156861560 156861624 64 0
ER Fulvestrant-MCF7GSE14664 156874041 156874102 61 0
Oct1 HelaGSE14283 156859831 156859876 45 0
Oct1 HelaGSE14283 156915483 156915532 49 0
TAF k562GSE8489 156920955 156923136 2181 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