AutismKB 2.0

Annotation Detail for SPTBN4


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Basic Information Top
Gene Symbol:SPTBN4 ( KIAA1642,QV,SPNB4,SPTBN3 )
Gene Full Name: spectrin, beta, non-erythrocytic 4
Band: 19q13.13
Quick LinksEntrez ID:57731; OMIM: 606214; Uniprot ID:SPTN4_HUMAN; ENSEMBL ID: ENSG00000160460; HGNC ID: 14896
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
131N6-acetyllysine.
2111Phosphothreonine.
2112Phosphothreonine.
2121Phosphoserine.
Location(AA) Modifications Resource
2111Phosphothreonine.Swiss-Prot 53.0
2111PhosphothreoninePhospho.ELM 6.0
2112Phosphothreonine.Swiss-Prot 53.0
2112PhosphothreoninePhospho.ELM 6.0
2121Phosphoserine.Swiss-Prot 53.0
2121PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
103Phosphoserine(CK1)HMM predict
204N-linkedHMM predict
342Phosphoserine(CK1)HMM predict
453Phosphoserine(CAMK2)HMM predict
500Phosphotyrosine(Syk)HMM predict
602Phosphoserine(ATM)HMM predict
693O-linkedHMM predict
750Phosphoserine(PKC)HMM predict
941N-linkedHMM predict
1146Phosphotyrosine(EGFR)HMM predict
1223Phosphoserine(PKG)HMM predict
1251Phosphoserine(ATM)HMM predict
1431Phosphoserine(ATM)HMM predict
1454Phosphoserine(PKA)HMM predict
1457Phosphoserine(ATM)HMM predict
1586Phosphoserine(MAPK)HMM predict
1703Phosphoserine(PKC)HMM predict
1703Phosphoserine(PKG)HMM predict
1703Phosphoserine(IKK)HMM predict
1737Phosphoserine(CAMK2)HMM predict
1737Phosphoserine(CK2)HMM predict
1774Phosphoserine(IKK)HMM predict
1862PhosphothreonineHMM predict
1862Phosphothreonine(CDK)HMM predict
1869O-linkedHMM predict
2011N-linkedHMM predict
2028Phosphothreonine(PKC)HMM predict
2105Phosphoserine(CK1)HMM predict
2112Phosphothreonine(PKC)HMM predict
2126Phosphothreonine(MAPK)HMM predict
2165Phosphoserine(PKB)HMM predict
2217Phosphothreonine(MAPK)HMM predict
2217Phosphothreonine(CDK)HMM predict
2220Phosphothreonine(MAPK)HMM predict
2254Phosphoserine(CAMK2)HMM predict
2254Phosphoserine(IKK)HMM predict
2254Phosphoserine(PKB)HMM predict
2258Phosphoserine(CK2)HMM predict
2272Phosphoserine(PKG)HMM predict
2286Phosphotyrosine(INSR)HMM predict
2305PhosphoserineHMM predict
2305Phosphoserine(CK1)HMM predict
2305Phosphoserine(PKG)HMM predict
2306PhosphoserineHMM predict
2344Phosphoserine(IKK)HMM predict
2366Phosphothreonine(MAPK)HMM predict
2373MethylarginineHMM predict
2375MethylarginineHMM predict
2387MethylarginineHMM predict
2398Phosphoserine(PKA)HMM predict
2398Phosphoserine(PKC)HMM predict
2400Phosphoserine(PKA)HMM predict
2400Phosphoserine(PKG)HMM predict
2400Phosphoserine(IKK)HMM predict
2400Phosphoserine(PKB)HMM predict
2407O-linkedHMM predict
2439N-linkedHMM predict
2524O-linkedHMM predict
2541O-linkedHMM predict
2545O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020971
  • Location:chr19 45664965-45774203
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45664388 45664979 591 282
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45726816 45727221 405 0
CTCF CD4SISSRdata 45726816 45727221 405 0
CTCF HelaGSE12889 45726843 45727085 242 0
CTCF JurkatGSE12889 45726830 45727072 242 0
CTCF G2GSE9613 45721002 45721319 317 0
CTCF G2GSE9613 45726656 45727139 483 0
CTCF G2GSE9613 45765182 45766029 847 0
ER E2-MCF7GSE14664 45683257 45683293 36 0
ER E2-MCF7GSE14664 45685219 45685251 32 0
ER Fulvestrant-MCF7GSE14664 45683260 45683294 34 0
ER MCF7GSE19013 45677786 45678408 622 0
Fos K562GSE19551 45768232 45769027 795 0
KLF4 hESGSE17917 45665188 45665629 441 0
Oct1 H2O2-HelaGSE14283 45715049 45715080 31 0
Oct1 H2O2-HelaGSE14283 45724267 45724293 26 0
Oct1 HelaGSE14283 45683259 45683293 34 0
Oct1 HelaGSE14283 45693641 45693676 35 0
Oct1 HelaGSE14283 45715041 45715083 42 0
Oct1 HelaGSE14283 45722002 45722041 39 0
Oct1 HelaGSE14283 45724258 45724293 35 0
P300 T30-glioblastomaGSE21026 45726519 45727261 742 0
PHF8 Hs68plusFBSGSE20725 45767632 45768712 1080 0
RNAII Tamoxifen-MCF7GSE14664 45703427 45703556 129 0
Rb GrowingGSE19898 45768409 45768559 150 0
SRF GMOGSE8489 45726046 45726275 229 0
TAF k562GSE8489 45688800 45689179 379 0
TFAP2C MCF7GSE21234 45700337 45700950 613 0
hScc1 BcellGSE12603 45710888 45711363 475 0
hScc1 BcellGSE12603 45717362 45717500 138 0
hScc1 BcellGSE12603 45726624 45726965 341 0
p130 QuiescentGSE19898 45767827 45768125 298 0
p130 QuiescentGSE19898 45768351 45768533 182 0
p130 SenescentGSE19898 45768446 45768698 252 0
p130 shRbSenescentGSE19898 45767997 45768272 275 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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