AutismKB 2.0

Annotation Detail for SETD1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SETD1A ( KIAA0339,KMT2F,Set1,Set1A )
Gene Full Name: SET domain containing 1A
Band: 16p11.2
Quick LinksEntrez ID:9739; OMIM: 611052; Uniprot ID:SET1A_HUMAN; ENSEMBL ID: ENSG00000099381; HGNC ID: 29010
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
468Phosphoserine.
470Phosphoserine.
508Phosphoserine.
916Phosphothreonine.
1303HCFC1-binding motif (HBM).
Location(AA) Modifications Resource
468Phosphoserine.Swiss-Prot 53.0
470Phosphoserine.Swiss-Prot 53.0
540PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
36Phosphoserine(PKA)HMM predict
36Phosphoserine(PKC)HMM predict
36Phosphoserine(PKC)HMM predict
36Phosphoserine(PKG)HMM predict
48Phosphoserine(ATM)HMM predict
50N-linkedHMM predict
54Phosphotyrosine(EGFR)HMM predict
54Phosphotyrosine(INSR)HMM predict
151Phosphothreonine(PKC)HMM predict
185N-linkedHMM predict
220Phosphoserine(PKG)HMM predict
220Phosphoserine(CK1)HMM predict
220Phosphoserine(IKK)HMM predict
221Phosphoserine(PKA)HMM predict
221Phosphoserine(PKA)HMM predict
221Phosphoserine(PKG)HMM predict
221Phosphoserine(PKA)HMM predict
222Phosphoserine(PKB)HMM predict
231O-linkedHMM predict
232O-linkedHMM predict
239N-linkedHMM predict
244Phosphoserine(ATM)HMM predict
248Phosphoserine(IKK)HMM predict
250Phosphoserine(CK1)HMM predict
250Phosphoserine(CDC2)HMM predict
251Phosphoserine(CDK)HMM predict
256Phosphothreonine(MAPK)HMM predict
268Phosphoserine(ATM)HMM predict
271O-linkedHMM predict
275O-linkedHMM predict
281Phosphotyrosine(Abl)HMM predict
282Phosphoserine(ATM)HMM predict
285O-linkedHMM predict
288O-linkedHMM predict
288Phosphoserine(CK1)HMM predict
291O-linkedHMM predict
292O-linkedHMM predict
294O-linkedHMM predict
305Phosphotyrosine(EGFR)HMM predict
305Phosphotyrosine(Syk)HMM predict
315Phosphoserine(PKB)HMM predict
320O-linkedHMM predict
320O-linkedHMM predict
320Phosphoserine(IKK)HMM predict
321O-linkedHMM predict
322O-linkedHMM predict
324O-linkedHMM predict
325O-linkedHMM predict
330O-linkedHMM predict
330O-linkedHMM predict
331O-linkedHMM predict
334O-linkedHMM predict
334O-linkedHMM predict
336Phosphoserine(IKK)HMM predict
338O-linkedHMM predict
343Phosphoserine(CK1)HMM predict
343Phosphoserine(IKK)HMM predict
356Phosphoserine(CDK)HMM predict
357Phosphoserine(ATM)HMM predict
366SulfotyrosineHMM predict
381Phosphoserine(PKA)HMM predict
381Phosphoserine(PKB)HMM predict
382Phosphotyrosine(Jak)HMM predict
388Phosphothreonine(PKA)HMM predict
388Phosphothreonine(PKC)HMM predict
411O-linkedHMM predict
412Phosphotyrosine(Syk)HMM predict
425Phosphotyrosine(INSR)HMM predict
425Phosphotyrosine(Syk)HMM predict
430O-linkedHMM predict
450Phosphoserine(CDC2)HMM predict
458Phosphothreonine(PKC)HMM predict
459O-linkedHMM predict
459Phosphoserine(CDC2)HMM predict
459PhosphoserineHMM predict
464Phosphoserine(CDC2)HMM predict
464Phosphoserine(IKK)HMM predict
464PhosphoserineHMM predict
468O-linkedHMM predict
470O-linkedHMM predict
470Phosphoserine(CDC2)HMM predict
470Phosphoserine(IKK)HMM predict
470PhosphoserineHMM predict
486Phosphoserine(IKK)HMM predict
526Phosphothreonine(CK2)HMM predict
528O-linkedHMM predict
532O-linkedHMM predict
532Phosphoserine(CK1)HMM predict
534O-linkedHMM predict
540O-linkedHMM predict
540Phosphothreonine(MAPK)HMM predict
540PhosphothreonineHMM predict
556O-linkedHMM predict
562Phosphothreonine(PKC)HMM predict
575Phosphoserine(IKK)HMM predict
586Phosphoserine(CK2)HMM predict
593O-linkedHMM predict
593Phosphoserine(CDC2)HMM predict
599O-linkedHMM predict
599Phosphothreonine(MAPK)HMM predict
599Phosphothreonine(CDK)HMM predict
646Phosphotyrosine(SRC)HMM predict
657Phosphotyrosine(SRC)HMM predict
726Phosphotyrosine(SRC)HMM predict
761O-linkedHMM predict
763Phosphoserine(CK1)HMM predict
904Phosphoserine(CK2)HMM predict
916Phosphothreonine(MAPK)HMM predict
916Phosphothreonine(CDK)HMM predict
916PhosphothreonineHMM predict
939Phosphothreonine(PKC)HMM predict
969Phosphoserine(ATM)HMM predict
969Phosphoserine(IKK)HMM predict
972Phosphoserine(CK2)HMM predict
974Phosphoserine(CK1)HMM predict
996Phosphothreonine(PKC)HMM predict
1004Phosphoserine(CK2)HMM predict
1011Phosphoserine(CK1)HMM predict
1011Phosphoserine(CK2)HMM predict
1011Phosphoserine(ATM)HMM predict
1015Phosphoserine(IKK)HMM predict
1027N-linkedHMM predict
1031Phosphoserine(CK1)HMM predict
1031Phosphoserine(CK2)HMM predict
1033Phosphoserine(IKK)HMM predict
1060Phosphoserine(CK2)HMM predict
1061Phosphoserine(CK1)HMM predict
1062Phosphoserine(CK2)HMM predict
1076O-linkedHMM predict
1078O-linkedHMM predict
1088O-linkedHMM predict
1088Phosphothreonine(MAPK)HMM predict
1103O-linkedHMM predict
1103Phosphoserine(CDC2)HMM predict
1103Phosphoserine(CDK)HMM predict
1103Phosphoserine(IKK)HMM predict
1103PhosphoserineHMM predict
1106Phosphothreonine(CDC2)HMM predict
1106Phosphothreonine(MAPK)HMM predict
1106Phosphothreonine(CDK)HMM predict
1114Phosphoserine(CDC2)HMM predict
1114Phosphoserine(IKK)HMM predict
1122O-linkedHMM predict
1122Phosphothreonine(CDK)HMM predict
1128O-linkedHMM predict
1152Phosphoserine(CK1)HMM predict
1153Phosphoserine(CDC2)HMM predict
1167Phosphothreonine(PKA)HMM predict
1167Phosphothreonine(PKC)HMM predict
1185Phosphothreonine(MAPK)HMM predict
1185Phosphothreonine(CDK)HMM predict
1185PhosphothreonineHMM predict
1196Phosphoserine(PKC)HMM predict
1197MethylarginineHMM predict
1262Phosphothreonine(CDC2)HMM predict
1262Phosphothreonine(MAPK)HMM predict
1262Phosphothreonine(CDK)HMM predict
1282Phosphothreonine(CK2)HMM predict
1283Phosphoserine(CK2)HMM predict
1330Phosphoserine(CDC2)HMM predict
1376Phosphoserine(CK1)HMM predict
1377Phosphoserine(CK1)HMM predict
1377Phosphoserine(ATM)HMM predict
1379O-linkedHMM predict
1381Phosphoserine(CK1)HMM predict
1382Phosphoserine(CK1)HMM predict
1382Phosphoserine(CK2)HMM predict
1383Phosphoserine(CK1)HMM predict
1383Phosphoserine(ATM)HMM predict
1393Phosphoserine(PKC)HMM predict
1393Phosphoserine(PKG)HMM predict
1393Phosphoserine(PKB)HMM predict
1415Phosphotyrosine(Syk)HMM predict
1461N-linkedHMM predict
1472N-linkedHMM predict
1475Phosphothreonine(CDC2)HMM predict
1475Phosphothreonine(MAPK)HMM predict
1475Phosphothreonine(CDK)HMM predict
1499Phosphotyrosine(INSR)HMM predict
1499Phosphotyrosine(Syk)HMM predict
1510Phosphotyrosine(Syk)HMM predict
1698GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014712
  • Location:chr16 30876115-30903481
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 30875572 30876228 656 216
VDR GM10861-stimGSE22484 30874692 30877111 2419 214
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30891710 30891967 257 0
CTCF G2GSE9613 30896486 30896670 184 0
CTCF G2GSE9613 30898247 30898644 397 0
CTCF G2GSE9613 30901353 30901741 388 0
ETS1 JurkatGSE17954 30875291 30877247 1956 0
GABP k562GSE8489 30900797 30901007 210 0
H3K4me3 colorectalcancer 30877573 30878304 731 0
H3ac HepG2E 30877316 30879475 2159 0
KLF4 hESGSE17917 30876816 30877203 387 0
P300 T30-glioblastomaGSE21026 30875582 30877210 1628 0
PHF8 Hs68plusFBSGSE20725 30876055 30877203 1148 0
Rb GrowingGSE19898 30876356 30876595 239 0
Rb QuiescentGSE19898 30876125 30876604 479 0
Rb SenescentGSE19898 30876243 30876699 456 0
hScc1 BcellGSE12603 30883463 30883904 441 0
hScc1 BcellGSE12603 30885017 30885329 312 0
hScc1 BcellGSE12603 30897945 30898851 906 0
p130 QuiescentGSE19898 30876236 30876470 234 0
p130 QuiescentGSE19898 30877249 30877493 244 0
p130 SenescentGSE19898 30875939 30876656 717 0
p130 SenescentGSE19898 30876669 30876856 187 0
p130 shRbQuiescentGSE19898 30876166 30876652 486 0
p130 shRbSenescentGSE19898 30876122 30876824 702 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved