AutismKB 2.0

Annotation Detail for NSD1


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Basic Information Top
Gene Symbol:NSD1 ( ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO )
Gene Full Name: nuclear receptor binding SET domain protein 1
Band: 5q35.3
Quick LinksEntrez ID:64324; OMIM: 606681; Uniprot ID:NSD1_HUMAN; ENSEMBL ID: ENSG00000165671; HGNC ID: 14234
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
209Phosphoserine.
483Phosphoserine.
486Phosphoserine.
766Phosphoserine.
2471Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
38N-linkedHMM predict
40Phosphoserine(CK1)HMM predict
44N-linkedHMM predict
54Phosphoserine(IKK)HMM predict
61Phosphotyrosine(Abl)HMM predict
88N-linkedHMM predict
115O-linkedHMM predict
117O-linkedHMM predict
117Phosphoserine(CDC2)HMM predict
131Phosphoserine(IKK)HMM predict
155N-linkedHMM predict
179Phosphoserine(CK2)HMM predict
190N-linkedHMM predict
194N-linkedHMM predict
213Phosphoserine(CK1)HMM predict
213Phosphoserine(CK2)HMM predict
213Phosphoserine(IKK)HMM predict
214Phosphothreonine(MAPK)HMM predict
264N-linkedHMM predict
284Phosphoserine(IKK)HMM predict
287Phosphoserine(CK1)HMM predict
299O-linkedHMM predict
303Phosphothreonine(CK2)HMM predict
304O-linkedHMM predict
304Phosphoserine(CK1)HMM predict
304Phosphoserine(ATM)HMM predict
304Phosphoserine(IKK)HMM predict
431Phosphotyrosine(Syk)HMM predict
451PhosphoserineHMM predict
475S-palmitoylHMM predict
502Phosphoserine(PKG)HMM predict
509Phosphothreonine(PKC)HMM predict
510Phosphoserine(PKC)HMM predict
561O-linkedHMM predict
561Phosphoserine(IKK)HMM predict
563O-linkedHMM predict
567O-linkedHMM predict
633Phosphoserine(CK1)HMM predict
635O-linkedHMM predict
635Phosphoserine(IKK)HMM predict
637Phosphoserine(IKK)HMM predict
640O-linkedHMM predict
658Phosphoserine(CK1)HMM predict
661Phosphoserine(CK1)HMM predict
762Phosphoserine(CK1)HMM predict
766Phosphoserine(CK1)HMM predict
822Phosphoserine(CDC2)HMM predict
849PhosphoserineHMM predict
895Phosphoserine(CK1)HMM predict
895Phosphoserine(ATM)HMM predict
938Phosphoserine(CDC2)HMM predict
977N-linkedHMM predict
979Phosphoserine(CDC2)HMM predict
981O-linkedHMM predict
988Phosphoserine(CK1)HMM predict
988Phosphoserine(CK2)HMM predict
1050Phosphothreonine(PKC)HMM predict
1079MethylarginineHMM predict
1086Phosphoserine(CK1)HMM predict
1099Phosphoserine(CAMK2)HMM predict
1168Phosphothreonine(PKC)HMM predict
1208Phosphothreonine(MAPK)HMM predict
1208Phosphothreonine(CDK)HMM predict
1212Phosphoserine(CK2)HMM predict
1243Phosphoserine(IKK)HMM predict
1257Phosphothreonine(MAPK)HMM predict
1288Phosphotyrosine(Syk)HMM predict
1324O-linkedHMM predict
1324Phosphoserine(PKG)HMM predict
1374Phosphoserine(ATM)HMM predict
1382O-linkedHMM predict
1382PhosphoserineHMM predict
1409Phosphothreonine(PKA)HMM predict
1409Phosphothreonine(PKC)HMM predict
1426O-linkedHMM predict
1491Phosphoserine(CK1)HMM predict
1491Phosphoserine(CK2)HMM predict
1492Phosphoserine(CK1)HMM predict
1509Phosphothreonine(PKC)HMM predict
1510Phosphoserine(CDC2)HMM predict
1514Phosphothreonine(PKC)HMM predict
1562S-palmitoylHMM predict
1563S-palmitoylHMM predict
1611S-palmitoylHMM predict
1694Phosphothreonine(CDC2)HMM predict
1706N-linkedHMM predict
1721S-palmitoylHMM predict
1722S-palmitoylHMM predict
1725S-palmitoylHMM predict
1756Phosphotyrosine(EGFR)HMM predict
1941Phosphotyrosine(EGFR)HMM predict
2023S-palmitoylHMM predict
2076N-linkedHMM predict
2092Phosphothreonine(PKC)HMM predict
2109Phosphothreonine(PKC)HMM predict
2138S-palmitoylHMM predict
2148N-linkedHMM predict
2173Phosphoserine(PKC)HMM predict
2173Phosphoserine(IKK)HMM predict
2178S-palmitoylHMM predict
2181Phosphoserine(CDK)HMM predict
2221Phosphotyrosine(Jak)HMM predict
2288Phosphoserine(PKA)HMM predict
2288Phosphoserine(IKK)HMM predict
2306Phosphoserine(IKK)HMM predict
2308Phosphoserine(IKK)HMM predict
2330O-linkedHMM predict
2334Phosphoserine(CDC2)HMM predict
2334Phosphoserine(IKK)HMM predict
2337O-linkedHMM predict
2338Phosphoserine(CDC2)HMM predict
2338Phosphoserine(MAPK)HMM predict
2340O-linkedHMM predict
2340Phosphoserine(CK2)HMM predict
2342Phosphoserine(CDC2)HMM predict
2344Phosphoserine(CK1)HMM predict
2369Phosphoserine(CDK)HMM predict
2374Phosphoserine(IKK)HMM predict
2397Phosphoserine(CDC2)HMM predict
2402Phosphothreonine(PKC)HMM predict
2403O-linkedHMM predict
2415Phosphoserine(ATM)HMM predict
2431Phosphothreonine(PKC)HMM predict
2471Phosphoserine(PKB)HMM predict
2471PhosphoserineHMM predict
2476Phosphothreonine(PKA)HMM predict
2476Phosphothreonine(CDK)HMM predict
2490Phosphoserine(IKK)HMM predict
2515Phosphothreonine(PKC)HMM predict
2534Phosphothreonine(PKC)HMM predict
2540Phosphoserine(ATM)HMM predict
2556O-linkedHMM predict
2560Phosphoserine(PKG)HMM predict
2566O-linkedHMM predict
2566Phosphothreonine(MAPK)HMM predict
2571Phosphoserine(ATM)HMM predict
2612Phosphothreonine(PKC)HMM predict
2690CysteineHMM predict
2691AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022455
  • Location:chr5 176493531-176655366
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 176476061 176476808 747 17097
CTCF G2GSE9613 176487875 176488481 606 5354
CTCF G2GSE9613 176489679 176490316 637 3534
CTCF G2GSE9613 176491653 176494138 2485 636
Fos K562GSE19551 176476005 176476851 846 17104
Myc K562GSE19551 176476116 176476996 880 16976
NRSF pAbJurkat 176476358 176476772 414 16967
PHF8 HeLaGSE20725 176492451 176494415 1964 99
TAFII hESGSE17917 176483949 176484459 510 9328
hScc1 BcellGSE12603 176476423 176476772 349 16934
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 176492648 176494696 2048 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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