AutismKB 2.0

Annotation Detail for SPTB


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Basic Information Top
Gene Symbol:SPTB ( EL3,HS2,HSPTB1,SPH2 )
Gene Full Name: spectrin, beta, erythrocytic
Band: 14q23.3
Quick LinksEntrez ID:6710; OMIM: 182870; Uniprot ID:SPTB1_HUMAN; ENSEMBL ID: ENSG00000070182; HGNC ID: 11274
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
36Phosphoserine (By similarity).
2073Phosphothreonine.
2110Phosphothreonine.
2114Phosphoserine.
2117Phosphoserine.
2123Phosphoserine.
2125Phosphoserine.
2128Phosphoserine.
Location(AA) Modifications Resource
36Phosphoserine (By similarity).Swiss-Prot 53.0
2109PhosphothreoninePhospho.ELM 6.0
2113PhosphoserinePhospho.ELM 6.0
2114Phosphoserine (By similarity).Swiss-Prot 53.0
2116PhosphoserinePhospho.ELM 6.0
2122PhosphoserinePhospho.ELM 6.0
2124PhosphoserinePhospho.ELM 6.0
2127PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
34N-linkedHMM predict
172Phosphothreonine(PKC)HMM predict
194N-linkedHMM predict
197N-linkedHMM predict
347Phosphotyrosine(EGFR)HMM predict
349Phosphothreonine(PKC)HMM predict
404Phosphotyrosine(EGFR)HMM predict
493Phosphotyrosine(Syk)HMM predict
600Phosphotyrosine(INSR)HMM predict
613Phosphoserine(CK1)HMM predict
660Phosphotyrosine(INSR)HMM predict
660Phosphotyrosine(SRC)HMM predict
660Phosphotyrosine(Jak)HMM predict
767Phosphoserine(CK1)HMM predict
998Phosphoserine(PKG)HMM predict
1123Phosphoserine(PKG)HMM predict
1226Phosphoserine(CDC2)HMM predict
1226Phosphoserine(CDK)HMM predict
1297Phosphoserine(ATM)HMM predict
1520N-linkedHMM predict
1525N-linkedHMM predict
1590SulfotyrosineHMM predict
1590Phosphotyrosine(Syk)HMM predict
1590Phosphotyrosine(Jak)HMM predict
1699Phosphothreonine(PKA)HMM predict
1958N-linkedHMM predict
2019Phosphoserine(PKG)HMM predict
2019Phosphoserine(CAMK2)HMM predict
2019Phosphoserine(IKK)HMM predict
2114Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000347
  • Location:chr14 64302901-64359618
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 64359776 64360024 248 282
CTCF CD4SISSRdata 64359776 64360024 248 282
CTCF G2GSE9613 64359186 64360306 1120 128
CTCF G2GSE9613 64361168 64361370 202 1651
Gata2 K562GSE18868 64377563 64378761 1198 18544
hScc1 BcellGSE12603 64359546 64360490 944 400
hScc1 CdLSGSE12603 64359585 64360417 832 383
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 64311794 64311939 145 0
CTCF G2GSE9613 64314663 64314904 241 0
CTCF G2GSE9613 64323311 64323518 207 0
CTCF G2GSE9613 64336505 64337006 501 0
CTCF G2GSE9613 64338170 64338916 746 0
ER E2-MCF7GSE14664 64312449 64312481 32 0
ER MCF7GSE19013 64353333 64353952 619 0
Oct1 HelaGSE14283 64318772 64318799 27 0
Oct1 HelaGSE14283 64338746 64338775 29 0
P300 T30-glioblastomaGSE21026 64325106 64325592 486 0
RARG MCF7GSE15244 64336103 64338985 2882 0
RARG MCF7GSE15244 64341290 64342107 817 0
TFAP2C MCF7GSE21234 64342669 64343485 816 0
hScc1 BcellGSE12603 64307098 64307626 528 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
8021 EST chr14 64286315 64286718 174 mRNA SPTB chr14 64285425 64416354Sense/Antisense (SA) 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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