AutismKB 2.0

Annotation Detail for SPTBN1


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Basic Information Top
Gene Symbol:SPTBN1 ( ELF,SPTB2,betaSpII )
Gene Full Name: spectrin, beta, non-erythrocytic 1
Band: 2p16.2
Quick LinksEntrez ID:6711; OMIM: 182790; Uniprot ID:SPTB2_HUMAN; ENSEMBL ID: ENSG00000115306; HGNC ID: 11275
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
90N6-acetyllysine.
257Phosphoserine (By similarity).
999Phosphothreonine (By similarity).
1447Phosphoserine.
1805Phosphotyrosine (By similarity).
1815N6-acetyllysine.
1913N6-acetyllysine.
1918Phosphoserine (By similarity).
1989N6-acetyllysine.
2102Phosphoserine.
2115Phosphoserine (By similarity).
2128Phosphoserine.
2138Phosphoserine.
2159Phosphothreonine.
2160Phosphoserine.
2164Phosphoserine.
2165Phosphoserine.
2169Phosphoserine.
2187Phosphothreonine.
2195Phosphothreonine (By similarity).
2324O-linked (GlcNAc) (By similarity).
2328Phosphothreonine.
2341Phosphoserine.
2358Phosphoserine (By similarity).
Location(AA) Modifications Resource
999Phosphothreonine (By similarity).Swiss-Prot 53.0
1918Phosphoserine (By similarity).Swiss-Prot 53.0
2102Phosphoserine.Swiss-Prot 53.0
2102PhosphoserinePhospho.ELM 6.0
2115Phosphoserine (By similarity).Swiss-Prot 53.0
2128Phosphoserine.Swiss-Prot 53.0
2128PhosphoserinePhospho.ELM 6.0
2138Phosphoserine.Swiss-Prot 53.0
2138PhosphoserinePhospho.ELM 6.0
2161PhosphoserinePhospho.ELM 6.0
2164PhosphoserinePhospho.ELM 6.0
2165PhosphoserinePhospho.ELM 6.0
2165Phosphoserine.Swiss-Prot 53.0
2169Phosphoserine.Swiss-Prot 53.0
2169PhosphoserinePhospho.ELM 6.0
2195Phosphothreonine (By similarity).Swiss-Prot 53.0
2320PhosphothreoninePhospho.ELM 6.0
2324O-linked (GlcNAc) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphotyrosine(INSR)HMM predict
34N-linkedHMM predict
197N-linkedHMM predict
349Phosphothreonine(PKC)HMM predict
446Phosphoserine(CAMK2)HMM predict
461Phosphothreonine(PKC)HMM predict
493Phosphotyrosine(Syk)HMM predict
588N-linkedHMM predict
601Phosphotyrosine(Syk)HMM predict
601Phosphotyrosine(INSR)HMM predict
688Phosphoserine(CK1)HMM predict
744Phosphoserine(CK1)HMM predict
777Phosphotyrosine(Syk)HMM predict
778Phosphoserine(CK1)HMM predict
799Phosphothreonine(PKC)HMM predict
825Phosphoserine(PKG)HMM predict
918Phosphoserine(ATM)HMM predict
965N-linkedHMM predict
999Phosphothreonine(PKC)HMM predict
1024Phosphoserine(CK2)HMM predict
1114SulfotyrosineHMM predict
1114Phosphotyrosine(Syk)HMM predict
1118Phosphotyrosine(Syk)HMM predict
1118Phosphotyrosine(INSR)HMM predict
1118SulfotyrosineHMM predict
1166Phosphoserine(ATM)HMM predict
1166Phosphoserine(CK1)HMM predict
1171Phosphotyrosine(EGFR)HMM predict
1231Phosphothreonine(PKC)HMM predict
1408SulfotyrosineHMM predict
1441Phosphoserine(ATM)HMM predict
1447Phosphoserine(ATM)HMM predict
1462Phosphothreonine(PKC)HMM predict
1527N-linkedHMM predict
1557O-linkedHMM predict
1559Phosphoserine(CK1)HMM predict
1598Phosphotyrosine(Syk)HMM predict
1626Phosphoserine(IKK)HMM predict
1674Phosphoserine(PKG)HMM predict
1757Phosphothreonine(PKC)HMM predict
1964N-linkedHMM predict
1966Phosphoserine(IKK)HMM predict
2027Phosphoserine(CAMK2)HMM predict
2027Phosphoserine(PKG)HMM predict
2027Phosphoserine(IKK)HMM predict
2102O-linkedHMM predict
2102Phosphoserine(MAPK)HMM predict
2102Phosphoserine(IKK)HMM predict
2102Phosphoserine(CDC2)HMM predict
2102Phosphoserine(ATM)HMM predict
2106O-linkedHMM predict
2110Phosphoserine(CK2)HMM predict
2115Phosphoserine(CK1)HMM predict
2115Phosphoserine(ATM)HMM predict
2160Phosphoserine(CK2)HMM predict
2160Phosphoserine(CK1)HMM predict
2161Phosphoserine(CK1)HMM predict
2161Phosphoserine(PKB)HMM predict
2165PhosphoserineHMM predict
2169Phosphoserine(CDC2)HMM predict
2169Phosphoserine(MAPK)HMM predict
2172Phosphoserine(PKC)HMM predict
2184O-linkedHMM predict
2195Phosphothreonine(PKA)HMM predict
2195Phosphothreonine(MAPK)HMM predict
2316Phosphoserine(IKK)HMM predict
2319Phosphoserine(IKK)HMM predict
2320O-linkedHMM predict
2320Phosphothreonine(MAPK)HMM predict
2324O-linkedHMM predict
2328Phosphothreonine(PKC)HMM predict
2331O-linkedHMM predict
2335O-linkedHMM predict
2337O-linkedHMM predict
2338O-linkedHMM predict
2341Phosphoserine(CDC2)HMM predict
2358Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003128
  • Location:chr2 54536957-54752085
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 54522183 54522393 210 14670
TFAP2C MCF7GSE21234 54535435 54536172 737 1154
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 54755670 54755706 36 3603
Myc hESGSE17917 54754186 54754541 355 2278
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 54613379 54614087 708 0
CTCF CD4GSE12889 54583971 54584095 124 0
CTCF CD4GSE12889 54603385 54603759 374 0
CTCF CD4GSE12889 54746006 54746372 366 0
CTCF CD4SISSRdata 54583971 54584095 124 0
CTCF CD4SISSRdata 54603385 54603759 374 0
CTCF CD4SISSRdata 54746006 54746372 366 0
CTCF G2GSE9613 54536664 54538584 1920 0
CTCF G2GSE9613 54583655 54584267 612 0
CTCF G2GSE9613 54603384 54603683 299 0
CTCF G2GSE9613 54638260 54638559 299 0
CTCF G2GSE9613 54745945 54746393 448 0
H3K4me2 HCT116GSE10453 54637628 54638362 734 0
H3ac HepG2E 54635758 54637283 1525 0
H3ac HepG2E 54637594 54638497 903 0
Myc K562GSE19551 54566997 54567309 312 0
Myc K562GSE19551 54578786 54579093 307 0
Oct1 H2O2-HelaGSE14283 54602533 54602571 38 0
Oct1 HelaGSE14283 54602515 54602578 63 0
Oct4 hESGSE21916 54577452 54577946 494 0
P300 T30-glioblastomaGSE21026 54613372 54614265 893 0
P300 T30-glioblastomaGSE21026 54626289 54626863 574 0
TAF k562GSE8489 54574346 54574522 176 0
TFAP2C MCF7GSE21234 54538083 54538692 609 0
TFAP2C MCF7GSE21234 54603364 54603655 291 0
TFAP2C MCF7GSE21234 54613596 54614073 477 0
hScc1 BcellGSE12603 54536202 54538273 2071 0
hScc1 BcellGSE12603 54583719 54584303 584 0
hScc1 BcellGSE12603 54603384 54603750 366 0
hScc1 BcellGSE12603 54605142 54605488 346 0
hScc1 BcellGSE12603 54638260 54639506 1246 0
hScc1 CdLSGSE12603 54603384 54604069 685 0
hScc1 CdLSGSE12603 54638152 54638693 541 0
hScc1 CdLSGSE12603 54745874 54746429 555 0
hScc1 G2GSE9613 54536664 54537685 1021 0
hScc1 G2GSE9613 54603384 54603719 335 0
p130 QuiescentGSE19898 54605472 54605617 145 0
p130 shRbQuiescentGSE19898 54746189 54746684 495 0
p130 shRbQuiescentGSE19898 54747337 54747731 394 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


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