AutismKB 2.0

Annotation Detail for SPTBN5


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Basic Information Top
Gene Symbol:SPTBN5 ( BSPECV,HUBSPECV,HUSPECV )
Gene Full Name: spectrin, beta, non-erythrocytic 5
Band: 15q21
Quick LinksEntrez ID:51332; OMIM: 605916; Uniprot ID:SPTN5_HUMAN; ENSEMBL ID: ENSG00000137877; HGNC ID: 15680
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
23Phosphoserine(PKA)HMM predict
31Phosphoserine(CDC2)HMM predict
31Phosphoserine(CDK)HMM predict
31Phosphoserine(IKK)HMM predict
33O-linkedHMM predict
38Phosphoserine(ATM)HMM predict
198N-linkedHMM predict
226SulfotyrosineHMM predict
289Phosphothreonine(PKC)HMM predict
295Phosphothreonine(PKA)HMM predict
426Phosphothreonine(PKC)HMM predict
458O-linkedHMM predict
458O-linkedHMM predict
601Phosphoserine(CK1)HMM predict
602Phosphoserine(CK1)HMM predict
672Phosphoserine(ATM)HMM predict
767Phosphoserine(CK1)HMM predict
767Phosphoserine(PKG)HMM predict
782Phosphothreonine(CDK)HMM predict
812Phosphoserine(CAMK2)HMM predict
812Phosphoserine(PKC)HMM predict
812Phosphoserine(PKB)HMM predict
825Phosphoserine(MAPK)HMM predict
825Phosphoserine(CDC2)HMM predict
838Phosphoserine(IKK)HMM predict
875Phosphoserine(ATM)HMM predict
878Phosphotyrosine(Syk)HMM predict
955Phosphoserine(CK1)HMM predict
967N-linkedHMM predict
979Phosphoserine(CK1)HMM predict
979Phosphoserine(ATM)HMM predict
1067Phosphotyrosine(Abl)HMM predict
1067Phosphotyrosine(EGFR)HMM predict
1067Phosphotyrosine(INSR)HMM predict
1070Phosphoserine(ATM)HMM predict
1176Phosphoserine(ATM)HMM predict
1245Phosphoserine(CK1)HMM predict
1284Phosphothreonine(PKC)HMM predict
1365Phosphothreonine(PKC)HMM predict
1409Phosphothreonine(PKA)HMM predict
1445Phosphoserine(CK1)HMM predict
1470Phosphothreonine(PKC)HMM predict
1581Phosphoserine(CK1)HMM predict
1585Phosphoserine(IKK)HMM predict
1859Phosphoserine(CK1)HMM predict
1972Phosphoserine(ATM)HMM predict
1977Phosphoserine(ATM)HMM predict
2015Phosphothreonine(MAPK)HMM predict
2015Phosphothreonine(CDC2)HMM predict
2114Phosphothreonine(PKC)HMM predict
2206Phosphothreonine(PKC)HMM predict
2375N-linkedHMM predict
2501Phosphoserine(CDC2)HMM predict
2521Phosphoserine(IKK)HMM predict
2559Phosphoserine(CK1)HMM predict
2560Phosphoserine(CK1)HMM predict
2633Phosphoserine(PKG)HMM predict
2673Phosphothreonine(PKC)HMM predict
2691Phosphoserine(ATM)HMM predict
2943Phosphoserine(CK1)HMM predict
3122Phosphothreonine(PKC)HMM predict
3133SulfotyrosineHMM predict
3273Phosphothreonine(PKC)HMM predict
3298Phosphothreonine(PKC)HMM predict
3338Phosphoserine(CK1)HMM predict
3339Phosphoserine(CK1)HMM predict
3533Phosphothreonine(MAPK)HMM predict
3554Phosphoserine(PKA)HMM predict
3554O-linkedHMM predict
3557Phosphoserine(PKB)HMM predict
3557Phosphoserine(IKK)HMM predict
3668S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016642
  • Location:chr15 39927636-39973566
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39974177 39974546 369 795
Rb SenescentGSE19898 39974214 39974570 356 826
VDR GM10861-stimGSE22484 39973866 39978334 4468 2534
hScc1 BcellGSE12603 39974353 39974847 494 1034
p130 SenescentGSE19898 39974517 39974836 319 1110
p130 shRbSenescentGSE19898 39974325 39974574 249 883
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 39928940 39929188 248 0
CTCF G2GSE9613 39931651 39932513 862 0
CTCF G2GSE9613 39936924 39937280 356 0
CTCF G2GSE9613 39941246 39941528 282 0
CTCF G2GSE9613 39946352 39947141 789 0
CTCF G2GSE9613 39947587 39948298 711 0
CTCF G2GSE9613 39951140 39951884 744 0
CTCF G2GSE9613 39953246 39953598 352 0
CTCF G2GSE9613 39954404 39955036 632 0
CTCF G2GSE9613 39958571 39959732 1161 0
CTCF G2GSE9613 39961140 39961755 615 0
CTCF G2GSE9613 39968267 39968560 293 0
CTCF G2GSE9613 39973221 39973436 215 0
ER E2-MCF7GSE14664 39961215 39961247 32 0
ER Fulvestrant-MCF7GSE14664 39961224 39961261 37 0
Oct1 H2O2-HelaGSE14283 39955370 39955410 40 0
Oct1 H2O2-HelaGSE14283 39961234 39961259 25 0
Oct1 HelaGSE14283 39955370 39955412 42 0
Oct1 HelaGSE14283 39961213 39961263 50 0
TFAP2C MCF7GSE21234 39945026 39945449 423 0
TFAP2C MCF7GSE21234 39945529 39946081 552 0
hScc1 BcellGSE12603 39927834 39927987 153 0
hScc1 BcellGSE12603 39930239 39930906 667 0
hScc1 BcellGSE12603 39933027 39933312 285 0
hScc1 BcellGSE12603 39935799 39937280 1481 0
hScc1 BcellGSE12603 39945088 39945533 445 0
hScc1 BcellGSE12603 39946056 39946859 803 0
hScc1 BcellGSE12603 39949218 39949884 666 0
hScc1 BcellGSE12603 39950579 39951431 852 0
hScc1 BcellGSE12603 39952979 39953504 525 0
hScc1 BcellGSE12603 39957782 39958246 464 0
hScc1 BcellGSE12603 39961176 39962016 840 0
hScc1 BcellGSE12603 39962670 39963000 330 0
hScc1 BcellGSE12603 39966962 39967807 845 0
p130 SenescentGSE19898 39950256 39950408 152 0
p63 keratinocytesGSE17611 39928239 39929336 1097 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