AutismKB 2.0

Annotation Detail for SETD2


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Basic Information Top
Gene Symbol:SETD2 ( FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HYPB,KIAA1732,KMT3A,SET2,p231HBP )
Gene Full Name: SET domain containing 2
Band: 3p21.31
Quick LinksEntrez ID:29072; OMIM: 612778; Uniprot ID:SETD2_HUMAN; ENSEMBL ID: ENSG00000181555; HGNC ID: 18420
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
131Phosphoserine.
321Phosphoserine.
323Phosphoserine.
532Phosphoserine.
614Phosphoserine.
624Phosphoserine.
626Phosphothreonine.
708Phosphoserine.
742Phosphoserine.
744Phosphoserine.
754Phosphoserine.
905Phosphoserine.
1228Phosphoserine.
1413Phosphoserine.
1415Phosphoserine.
1417Phosphoserine.
1872Phosphothreonine.
2080Phosphoserine.
2082Phosphoserine.
Location(AA) Modifications Resource
321Phosphoserine.Swiss-Prot 53.0
321PhosphoserinePhospho.ELM 6.0
323PhosphoserinePhospho.ELM 6.0
323Phosphoserine.Swiss-Prot 53.0
532Phosphoserine.Swiss-Prot 53.0
532PhosphoserinePhospho.ELM 6.0
742PhosphoserinePhospho.ELM 6.0
749PhosphothreoninePhospho.ELM 6.0
754PhosphoserinePhospho.ELM 6.0
1413Phosphoserine.Swiss-Prot 53.0
1413PhosphoserinePhospho.ELM 6.0
2082PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
16SulfotyrosineHMM predict
22Phosphothreonine(CDC2)HMM predict
22Phosphothreonine(MAPK)HMM predict
22Phosphothreonine(CDK)HMM predict
22PhosphothreonineHMM predict
100Phosphothreonine(MAPK)HMM predict
131Phosphoserine(ATM)HMM predict
159O-linkedHMM predict
161O-linkedHMM predict
165O-linkedHMM predict
165O-linkedHMM predict
181O-linkedHMM predict
182O-linkedHMM predict
182Phosphothreonine(PKC)HMM predict
185O-linkedHMM predict
188O-linkedHMM predict
189O-linkedHMM predict
189Phosphoserine(ATM)HMM predict
200O-linkedHMM predict
201O-linkedHMM predict
203O-linkedHMM predict
204O-linkedHMM predict
204Phosphoserine(CDC2)HMM predict
279Phosphoserine(CK1)HMM predict
307PhosphoserineHMM predict
311Phosphoserine(CK2)HMM predict
312Phosphoserine(PKA)HMM predict
312Phosphoserine(PKG)HMM predict
312Phosphoserine(ATM)HMM predict
323Phosphoserine(CK2)HMM predict
323Phosphoserine(ATM)HMM predict
327Phosphoserine(CK1)HMM predict
327Phosphoserine(IKK)HMM predict
332Phosphoserine(CDC2)HMM predict
333Phosphoserine(ATM)HMM predict
336Phosphoserine(PKA)HMM predict
389Phosphotyrosine(EGFR)HMM predict
403Phosphoserine(PKG)HMM predict
403Phosphoserine(CK1)HMM predict
427Phosphotyrosine(Syk)HMM predict
438Phosphoserine(CDC2)HMM predict
446Phosphotyrosine(INSR)HMM predict
458Phosphoserine(PKG)HMM predict
458Phosphoserine(CK2)HMM predict
459Phosphoserine(CK1)HMM predict
459Phosphoserine(CK2)HMM predict
459Phosphoserine(PKB)HMM predict
461Phosphoserine(CK1)HMM predict
465Phosphotyrosine(INSR)HMM predict
465Phosphotyrosine(SRC)HMM predict
465Phosphotyrosine(Syk)HMM predict
468Phosphothreonine(PKC)HMM predict
473Phosphothreonine(PKA)HMM predict
474Phosphoserine(CK1)HMM predict
474Phosphoserine(CK2)HMM predict
474Phosphoserine(IKK)HMM predict
474Phosphoserine(PKA)HMM predict
475O-linkedHMM predict
475Phosphoserine(IKK)HMM predict
475Phosphoserine(PKA)HMM predict
487Phosphoserine(PKA)HMM predict
487Phosphoserine(CAMK2)HMM predict
487Phosphoserine(PKB)HMM predict
501Phosphotyrosine(INSR)HMM predict
501Phosphotyrosine(SRC)HMM predict
522Phosphoserine(CK1)HMM predict
543Phosphoserine(PKA)HMM predict
544Phosphoserine(PKB)HMM predict
558Phosphothreonine(PKC)HMM predict
560Phosphoserine(PKA)HMM predict
587Phosphoserine(IKK)HMM predict
614Phosphoserine(CDC2)HMM predict
614Phosphoserine(CDK)HMM predict
614Phosphoserine(IKK)HMM predict
614PhosphoserineHMM predict
622N-linkedHMM predict
624Phosphoserine(CDC2)HMM predict
626Phosphothreonine(PKC)HMM predict
674N-linkedHMM predict
676Phosphoserine(CDC2)HMM predict
688O-linkedHMM predict
701Phosphoserine(IKK)HMM predict
705Phosphoserine(IKK)HMM predict
723N-linkedHMM predict
744Phosphoserine(CDC2)HMM predict
773Phosphothreonine(PKC)HMM predict
794Phosphotyrosine(Jak)HMM predict
798N-linkedHMM predict
801N-linkedHMM predict
806N-linkedHMM predict
807Phosphoserine(IKK)HMM predict
840N-linkedHMM predict
859O-linkedHMM predict
860O-linkedHMM predict
903N-linkedHMM predict
1006N-linkedHMM predict
1039Phosphoserine(CK1)HMM predict
1041Phosphoserine(CK2)HMM predict
1044Phosphoserine(CK2)HMM predict
1044PhosphoserineHMM predict
1045Phosphoserine(CK2)HMM predict
1045Phosphoserine(IKK)HMM predict
1049Phosphoserine(CK1)HMM predict
1049Phosphoserine(CK2)HMM predict
1049Phosphoserine(ATM)HMM predict
1051Phosphoserine(CK1)HMM predict
1051Phosphoserine(CK2)HMM predict
1056Phosphoserine(CK1)HMM predict
1056Phosphoserine(ATM)HMM predict
1060Phosphoserine(CK1)HMM predict
1060Phosphoserine(IKK)HMM predict
1075N-linkedHMM predict
1077Phosphothreonine(PKA)HMM predict
1084Phosphoserine(IKK)HMM predict
1088Phosphoserine(CK1)HMM predict
1207Phosphoserine(CK2)HMM predict
1214N-linkedHMM predict
1263Phosphoserine(ATM)HMM predict
1271Phosphotyrosine(SRC)HMM predict
1271Phosphotyrosine(Abl)HMM predict
1271Phosphotyrosine(Syk)HMM predict
1350Phosphoserine(ATM)HMM predict
1413Phosphoserine(CK1)HMM predict
1413Phosphoserine(ATM)HMM predict
1417Phosphoserine(CK1)HMM predict
1437O-linkedHMM predict
1437Phosphoserine(ATM)HMM predict
1481Phosphotyrosine(SRC)HMM predict
1481Phosphotyrosine(Syk)HMM predict
1483Phosphothreonine(PKC)HMM predict
1488N-linkedHMM predict
1557Phosphothreonine(PKC)HMM predict
1622N-linkedHMM predict
1628N-linkedHMM predict
1634N-linkedHMM predict
1666SulfotyrosineHMM predict
1714Phosphoserine(CAMK2)HMM predict
1747Phosphothreonine(PKC)HMM predict
1828Phosphoserine(IKK)HMM predict
1832O-linkedHMM predict
1843Phosphotyrosine(INSR)HMM predict
1847N-linkedHMM predict
1853Phosphothreonine(MAPK)HMM predict
1853Phosphothreonine(CDK)HMM predict
1857O-linkedHMM predict
1857Phosphothreonine(MAPK)HMM predict
1888PhosphoserineHMM predict
1898Phosphoserine(CK1)HMM predict
1966N-linkedHMM predict
1980Phosphoserine(CK1)HMM predict
1980Phosphoserine(CK2)HMM predict
1980Phosphoserine(ATM)HMM predict
1988Phosphoserine(CK2)HMM predict
1992Phosphoserine(CK1)HMM predict
1995Phosphoserine(CK1)HMM predict
1995Phosphoserine(ATM)HMM predict
1995Phosphoserine(IKK)HMM predict
2031Phosphothreonine(PKC)HMM predict
2031Phosphothreonine(CK2)HMM predict
2035N-linkedHMM predict
2051Phosphothreonine(MAPK)HMM predict
2056Phosphothreonine(CDC2)HMM predict
2056Phosphothreonine(MAPK)HMM predict
2056Phosphothreonine(CDK)HMM predict
2058N-linkedHMM predict
2079Phosphoserine(PKA)HMM predict
2080Phosphoserine(PKA)HMM predict
2080Phosphoserine(PKG)HMM predict
2080Phosphoserine(IKK)HMM predict
2082Phosphoserine(CDC2)HMM predict
2082Phosphoserine(MAPK)HMM predict
2082Phosphoserine(ATM)HMM predict
2082Phosphoserine(IKK)HMM predict
2099Phosphotyrosine(Syk)HMM predict
2101Phosphothreonine(MAPK)HMM predict
2101Phosphothreonine(CDK)HMM predict
2118Phosphothreonine(PKC)HMM predict
2148Phosphoserine(MAPK)HMM predict
2199O-linkedHMM predict
2199Phosphoserine(MAPK)HMM predict
2218O-linkedHMM predict
2236O-linkedHMM predict
2238Phosphoserine(ATM)HMM predict
2269N-linkedHMM predict
2287O-linkedHMM predict
2287Phosphoserine(IKK)HMM predict
2291Phosphoserine(ATM)HMM predict
2296SulfotyrosineHMM predict
2306Phosphotyrosine(Abl)HMM predict
2309O-linkedHMM predict
2310Phosphoserine(CDC2)HMM predict
2313O-linkedHMM predict
2313O-linkedHMM predict
2313Phosphoserine(ATM)HMM predict
2313Phosphoserine(IKK)HMM predict
2316O-linkedHMM predict
2353O-linkedHMM predict
2354O-linkedHMM predict
2382Phosphoserine(CDC2)HMM predict
2382Phosphoserine(ATM)HMM predict
2452Phosphoserine(PKG)HMM predict
2462Phosphothreonine(CK2)HMM predict
2470Phosphoserine(PKG)HMM predict
2543Phosphotyrosine(INSR)HMM predict
2543Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014159
  • Location:chr3 47032910-47140743
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47015132 47015445 313 17622
CTCF CD4SISSRdata 47015132 47015445 313 17622
CTCF HelaGSE12889 47015107 47015368 261 17673
CTCF JurkatGSE12889 47015102 47015346 244 17687
CTCF G2GSE9613 47013846 47015799 1953 18088
CTCF G2GSE9613 47018892 47019364 472 13783
CTCF G2GSE9613 47019658 47020785 1127 12689
CTCF G2GSE9613 47021075 47021567 492 11590
CTCF G2GSE9613 47021858 47022331 473 10816
CTCF G2GSE9613 47024477 47024654 177 8345
CTCF G2GSE9613 47025653 47026839 1186 6665
CTCF G2GSE9613 47030555 47030846 291 2210
PHF8 Hs68plusFBSGSE20725 47025574 47026737 1163 6755
Rb SenescentGSE19898 47025657 47026149 492 7008
hScc1 BcellGSE12603 47014753 47015528 775 17770
hScc1 BcellGSE12603 47025541 47026675 1134 6803
hScc1 CdLSGSE12603 47014792 47015459 667 17785
hScc1 G2GSE9613 47013955 47015755 1800 18056
hScc1 G2GSE9613 47018949 47019364 415 13754
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47045227 47045514 287 0
FOXA1 MCF7GSE15244 47051791 47052291 500 0
NRSF mAbJurkat 47139673 47140293 620 0
Nanog ESGSE20650 47130521 47130881 360 0
Nanog hESGSE18292 47124905 47125355 450 0
Nanog hESGSE18292 47130431 47131026 595 0
P300 T30-glioblastomaGSE21026 47060839 47061181 342 0
RARA MCF7GSE15244 47051754 47052252 498 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-107 hsa-mir-107 10 20308559
hsa-miR-107 hsa-mir-107 10 21388952
hsa-miR-124 hsa-mir-124-1 8 20599952
hsa-miR-124* hsa-mir-124-1 8 20599952
hsa-miR-17 hsa-mir-17 13 18632605
hsa-miR-17* hsa-mir-17 13 18632605
hsa-miR-18a hsa-mir-18a 13 18632605
hsa-miR-18a hsa-mir-18a 13 21388952
hsa-miR-18a* hsa-mir-18a 13 18632605
hsa-miR-18a* hsa-mir-18a 13 21388952
hsa-miR-19a hsa-mir-19a 13 18632605
hsa-miR-19a hsa-mir-19a 13 21388952
hsa-miR-19a* hsa-mir-19a 13 18632605
hsa-miR-19a* hsa-mir-19a 13 21388952
hsa-miR-19b hsa-mir-19b-1 13 18632605
hsa-miR-19b-1* hsa-mir-19b-1 13 18632605
hsa-miR-20a hsa-mir-20a 13 18632605
hsa-miR-20a* hsa-mir-20a 13 18632605
hsa-miR-20b hsa-mir-20b X 20232316
hsa-miR-20b* hsa-mir-20b X 20232316
hsa-miR-210 hsa-mir-210 11 20732359
hsa-miR-210 hsa-mir-210 11 20436681
hsa-miR-210 hsa-mir-210 11 18539147
hsa-miR-424 hsa-mir-424 X 20972325
hsa-miR-424* hsa-mir-424 X 20972325
hsa-miR-92a hsa-mir-92a-1 13 18632605
hsa-miR-92a hsa-mir-92a-2 X 18632605
hsa-miR-92a-1* hsa-mir-92a-1 13 18632605
No data
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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