AutismKB 2.0

Annotation Detail for SHANK1


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Basic Information Top
Gene Symbol:SHANK1 ( SPANK-1,SSTRIP,synamon )
Gene Full Name: SH3 and multiple ankyrin repeat domains 1
Band: 19q13.33
Quick LinksEntrez ID:50944; OMIM: 604999; Uniprot ID:SHAN1_HUMAN; ENSEMBL ID: ENSG00000161681; HGNC ID: 15474
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
275Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
8Phosphoserine(CK2)HMM predict
8PhosphoserineHMM predict
15Phosphoserine(IKK)HMM predict
17Phosphoserine(CK2)HMM predict
26Phosphoserine(ATM)HMM predict
28Phosphoserine(CK1)HMM predict
29Phosphoserine(CDC2)HMM predict
29Phosphoserine(ATM)HMM predict
29Phosphoserine(IKK)HMM predict
38MethylarginineHMM predict
45O-linkedHMM predict
50Phosphoserine(IKK)HMM predict
63Phosphoserine(IKK)HMM predict
212Phosphoserine(CK1)HMM predict
215Phosphothreonine(MAPK)HMM predict
215Phosphothreonine(CDK)HMM predict
234S-palmitoylHMM predict
327Phosphoserine(ATM)HMM predict
458O-linkedHMM predict
459O-linkedHMM predict
465O-linkedHMM predict
466O-linkedHMM predict
468O-linkedHMM predict
468O-linkedHMM predict
468Phosphoserine(IKK)HMM predict
472Phosphoserine(ATM)HMM predict
472Phosphoserine(IKK)HMM predict
475O-linkedHMM predict
490PhosphoserineHMM predict
491Phosphoserine(CDC2)HMM predict
493MethylarginineHMM predict
499Phosphoserine(CDC2)HMM predict
499PhosphoserineHMM predict
514MethylarginineHMM predict
518O-linkedHMM predict
518Phosphoserine(CDC2)HMM predict
519O-linkedHMM predict
522Phosphothreonine(CDC2)HMM predict
534O-linkedHMM predict
613N-linkedHMM predict
624Phosphoserine(ATM)HMM predict
641O-linkedHMM predict
685Phosphothreonine(MAPK)HMM predict
701Phosphotyrosine(Jak)HMM predict
788Phosphoserine(IKK)HMM predict
788Phosphoserine(PKB)HMM predict
791Phosphoserine(CK2)HMM predict
798Phosphotyrosine(Syk)HMM predict
832Phosphothreonine(PKC)HMM predict
834Phosphoserine(CK2)HMM predict
838Phosphoserine(ATM)HMM predict
838PhosphoserineHMM predict
876O-linkedHMM predict
900Phosphotyrosine(Jak)HMM predict
900Phosphotyrosine(Syk)HMM predict
909O-linkedHMM predict
913Phosphoserine(CAMK2)HMM predict
913Phosphoserine(CK1)HMM predict
913Phosphoserine(ATM)HMM predict
913Phosphoserine(IKK)HMM predict
913PhosphoserineHMM predict
917Phosphoserine(IKK)HMM predict
925O-linkedHMM predict
933Phosphotyrosine(SRC)HMM predict
933Phosphotyrosine(Abl)HMM predict
934O-linkedHMM predict
935O-linkedHMM predict
937O-linkedHMM predict
937O-linkedHMM predict
940Phosphoserine(CDC2)HMM predict
941O-linkedHMM predict
942O-linkedHMM predict
946Phosphothreonine(MAPK)HMM predict
948Phosphoserine(CDC2)HMM predict
948Phosphoserine(CDK)HMM predict
950MethylarginineHMM predict
958O-linkedHMM predict
965O-linkedHMM predict
965Phosphoserine(IKK)HMM predict
966O-linkedHMM predict
969O-linkedHMM predict
974O-linkedHMM predict
986Phosphoserine(CK1)HMM predict
990Phosphoserine(ATM)HMM predict
1031O-linkedHMM predict
1031Phosphoserine(CDC2)HMM predict
1048MethylarginineHMM predict
1056Phosphoserine(CDC2)HMM predict
1058O-linkedHMM predict
1058O-linkedHMM predict
1058Phosphothreonine(MAPK)HMM predict
1063O-linkedHMM predict
1063Phosphoserine(CDC2)HMM predict
1063PhosphoserineHMM predict
1065O-linkedHMM predict
1077Phosphoserine(ATM)HMM predict
1093Phosphoserine(PKG)HMM predict
1104MethylarginineHMM predict
1131O-linkedHMM predict
1131Phosphoserine(CDC2)HMM predict
1133O-linkedHMM predict
1134O-linkedHMM predict
1134Phosphoserine(CDC2)HMM predict
1134Phosphoserine(CDK)HMM predict
1134Phosphoserine(IKK)HMM predict
1137O-linkedHMM predict
1137Phosphoserine(CDC2)HMM predict
1137Phosphoserine(CDK)HMM predict
1137Phosphoserine(ATM)HMM predict
1137Phosphoserine(IKK)HMM predict
1167Phosphoserine(CK1)HMM predict
1168O-linkedHMM predict
1172Phosphoserine(ATM)HMM predict
1175Phosphoserine(CK1)HMM predict
1196O-linkedHMM predict
1197O-linkedHMM predict
1197Phosphoserine(CDC2)HMM predict
1199O-linkedHMM predict
1199Phosphoserine(CDC2)HMM predict
1199Phosphoserine(ATM)HMM predict
1205O-linkedHMM predict
1205Phosphoserine(CDC2)HMM predict
1205PhosphoserineHMM predict
1210O-linkedHMM predict
1210Phosphoserine(CDC2)HMM predict
1210Phosphoserine(IKK)HMM predict
1212O-linkedHMM predict
1212Phosphoserine(CDC2)HMM predict
1216O-linkedHMM predict
1216O-linkedHMM predict
1219O-linkedHMM predict
1219Phosphoserine(CDC2)HMM predict
1219Phosphoserine(IKK)HMM predict
1221O-linkedHMM predict
1221Phosphoserine(IKK)HMM predict
1255Phosphothreonine(PKA)HMM predict
1317O-linkedHMM predict
1331Phosphoserine(IKK)HMM predict
1351Phosphoserine(MAPK)HMM predict
1368Phosphoserine(CK1)HMM predict
1382O-linkedHMM predict
1382Phosphoserine(CDC2)HMM predict
1382Phosphoserine(MAPK)HMM predict
1382PhosphoserineHMM predict
1385Phosphotyrosine(SRC)HMM predict
1385Phosphotyrosine(Abl)HMM predict
1385Phosphotyrosine(Syk)HMM predict
1391Phosphothreonine(MAPK)HMM predict
1428Phosphoserine(ATM)HMM predict
1432Phosphoserine(IKK)HMM predict
1436Phosphoserine(CDC2)HMM predict
1436Phosphoserine(MAPK)HMM predict
1436Phosphoserine(ATM)HMM predict
1436PhosphoserineHMM predict
1506O-linkedHMM predict
1506O-linkedHMM predict
1512O-linkedHMM predict
1522O-linkedHMM predict
1522Phosphoserine(CDC2)HMM predict
1522Phosphoserine(CDK)HMM predict
1522PhosphoserineHMM predict
1522Phosphoserine(MAPK)HMM predict
1526O-linkedHMM predict
1530Phosphoserine(CDC2)HMM predict
1530Phosphoserine(ATM)HMM predict
1530Phosphoserine(IKK)HMM predict
1533O-linkedHMM predict
1533Phosphoserine(CDC2)HMM predict
1533Phosphoserine(MAPK)HMM predict
1533Phosphoserine(IKK)HMM predict
1582Phosphoserine(CDC2)HMM predict
1582Phosphoserine(CDK)HMM predict
1582Phosphoserine(IKK)HMM predict
1585Phosphothreonine(MAPK)HMM predict
1600Phosphothreonine(MAPK)HMM predict
1600Phosphothreonine(CDK)HMM predict
1616O-linkedHMM predict
1616Phosphothreonine(PKC)HMM predict
1619O-linkedHMM predict
1619Phosphoserine(IKK)HMM predict
1620O-linkedHMM predict
1625O-linkedHMM predict
1626O-linkedHMM predict
1629O-linkedHMM predict
1682Phosphoserine(CK1)HMM predict
1683Phosphoserine(CK1)HMM predict
1690O-linkedHMM predict
1692O-linkedHMM predict
1695Phosphoserine(IKK)HMM predict
1698Phosphoserine(CK1)HMM predict
1701Phosphoserine(CK1)HMM predict
1740O-linkedHMM predict
1741O-linkedHMM predict
1742Phosphothreonine(CDC2)HMM predict
1742Phosphothreonine(MAPK)HMM predict
1753Phosphothreonine(MAPK)HMM predict
1753Phosphothreonine(CDK)HMM predict
1781Phosphothreonine(MAPK)HMM predict
1784O-linkedHMM predict
1784O-linkedHMM predict
1784Phosphoserine(CDC2)HMM predict
1784Phosphoserine(MAPK)HMM predict
1784Phosphoserine(CDK)HMM predict
1786O-linkedHMM predict
1788O-linkedHMM predict
1790O-linkedHMM predict
1865O-linkedHMM predict
1865Phosphothreonine(PKC)HMM predict
1869Phosphoserine(PKG)HMM predict
1876Phosphoserine(CK1)HMM predict
1918Phosphoserine(CK1)HMM predict
1918Phosphoserine(PKB)HMM predict
1928Phosphoserine(ATM)HMM predict
1928Phosphoserine(IKK)HMM predict
1934Phosphoserine(CK1)HMM predict
1959O-linkedHMM predict
1961O-linkedHMM predict
1961O-linkedHMM predict
1969O-linkedHMM predict
1970Phosphoserine(CDC2)HMM predict
1970Phosphoserine(CDK)HMM predict
1970Phosphoserine(IKK)HMM predict
1972O-linkedHMM predict
1975Phosphoserine(CK1)HMM predict
1976Phosphoserine(IKK)HMM predict
1977Phosphoserine(CK1)HMM predict
2000PhosphoserineHMM predict
2012Phosphoserine(CDC2)HMM predict
2012Phosphoserine(CDK)HMM predict
2018O-linkedHMM predict
2019Phosphoserine(IKK)HMM predict
2038Phosphoserine(CDC2)HMM predict
2062O-linkedHMM predict
2073O-linkedHMM predict
2075Phosphoserine(IKK)HMM predict
2077Phosphoserine(CDC2)HMM predict
2077Phosphoserine(CDK)HMM predict
2077PhosphoserineHMM predict
2137Phosphotyrosine(INSR)HMM predict
2149MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016148
  • Location:chr19 55856895-55912006
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 55852849 55854425 1576 3259
TAF k562GSE8489 55852151 55853020 869 4310
p130 QuiescentGSE19898 55853851 55854091 240 2925
p130 shRbSenescentGSE19898 55854314 55854592 278 2443
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 55864471 55864842 371 0
CTCF CD4GSE12889 55900569 55900762 193 0
CTCF CD4SISSRdata 55864471 55864842 371 0
CTCF CD4SISSRdata 55900569 55900762 193 0
CTCF HelaGSE12889 55900544 55900725 181 0
CTCF JurkatGSE12889 55864468 55864694 226 0
CTCF G2GSE9613 55873356 55873700 344 0
CTCF G2GSE9613 55882447 55883077 630 0
CTCF G2GSE9613 55888872 55889383 511 0
CTCF G2GSE9613 55891977 55892399 422 0
CTCF G2GSE9613 55899227 55899655 428 0
Fos K562GSE19551 55874304 55874982 678 0
H3K27me3 colorectalcancer 55910041 55911474 1433 0
NRSF JurkatGSE13047 55889815 55891397 1582 0
NRSF mAbJurkat 55885203 55886605 1402 0
NRSF mAbJurkat 55891688 55893445 1757 0
NRSF mAbJurkat 55894151 55895598 1447 0
NRSF-mono JurkatQuESTdata 55889878 55891446 1568 0
NRSF-poly JurkatQuESTdata 55889468 55891558 2090 0
Oct1 H2O2-HelaGSE14283 55857582 55857621 39 0
Oct1 H2O2-HelaGSE14283 55891048 55891079 31 0
Oct1 H2O2-HelaGSE14283 55906945 55906980 35 0
Oct1 HelaGSE14283 55857582 55857619 37 0
Oct1 HelaGSE14283 55891048 55891080 32 0
Rb SenescentGSE19898 55874317 55874746 429 0
hScc1 BcellGSE12603 55862871 55863562 691 0
hScc1 BcellGSE12603 55884013 55884189 176 0
hScc1 BcellGSE12603 55888374 55889147 773 0
hScc1 BcellGSE12603 55906819 55907103 284 0
hScc1 G2GSE9613 55899193 55899684 491 0
p130 SenescentGSE19898 55874433 55874836 403 0
p130 shRbQuiescentGSE19898 55874285 55874787 502 0
p130 shRbSenescentGSE19898 55874374 55874834 460 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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