AutismKB 2.0

Annotation Detail for NIPBL


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Basic Information Top
Gene Symbol:NIPBL ( CDLS,CDLS1,DKFZp434L1319,FLJ11203,FLJ12597,FLJ13354,FLJ13648,FLJ44854,IDN3,IDN3-B,Scc2 )
Gene Full Name: Nipped-B homolog (Drosophila)
Band: 5p13.2
Quick LinksEntrez ID:25836; OMIM: 608667; Uniprot ID:NIPBL_HUMAN; ENSEMBL ID: ENSG00000164190; HGNC ID: 28862
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
139Phosphoserine.
150Phosphoserine.
162Phosphoserine.
274Phosphoserine.
280Phosphoserine.
284Phosphoserine.
306Phosphoserine.
318Phosphoserine.
350Phosphoserine.
553Phosphoserine (By similarity).
558Phosphothreonine (By similarity).
646Phosphothreonine.
746Phosphothreonine.
849Phosphoserine.
850Phosphoserine.
912Phosphoserine.
914Phosphothreonine.
1009PxVxL motif.
1089Phosphoserine.
1090Phosphoserine.
1096Phosphoserine.
1150Phosphoserine.
1152Phosphoserine.
1154Phosphoserine.
1159Phosphotyrosine.
1160Phosphoserine.
1458Phosphothreonine (By similarity).
1459Phosphoserine (By similarity).
2509Phosphoserine.
2511Phosphoserine.
2513Phosphoserine.
2515Phosphoserine.
2658Phosphoserine.
2667Phosphothreonine.
2672Phosphoserine.
Location(AA) Modifications Resource
280Phosphoserine (By similarity).Swiss-Prot 53.0
318PhosphoserinePhospho.ELM 6.0
318Phosphoserine.Swiss-Prot 53.0
713PhosphothreoninePhospho.ELM 6.0
746Phosphothreonine.Swiss-Prot 53.0
849Phosphoserine.Swiss-Prot 53.0
849PhosphoserinePhospho.ELM 6.0
850Phosphoserine.Swiss-Prot 53.0
850PhosphoserinePhospho.ELM 6.0
874PhosphoserinePhospho.ELM 6.0
877PhosphoserinePhospho.ELM 6.0
1089Phosphoserine.Swiss-Prot 53.0
1090Phosphoserine.Swiss-Prot 53.0
1096Phosphoserine.Swiss-Prot 53.0
1150Phosphoserine.Swiss-Prot 53.0
1150PhosphoserinePhospho.ELM 6.0
1152PhosphoserinePhospho.ELM 6.0
1152Phosphoserine.Swiss-Prot 53.0
1154PhosphoserinePhospho.ELM 6.0
1154Phosphoserine.Swiss-Prot 53.0
1159Phosphotyrosine.Swiss-Prot 53.0
1160PhosphoserinePhospho.ELM 6.0
2509PhosphoserinePhospho.ELM 6.0
2511PhosphoserinePhospho.ELM 6.0
2513PhosphoserinePhospho.ELM 6.0
2658Phosphoserine.Swiss-Prot 53.0
2658PhosphoserinePhospho.ELM 6.0
2667Phosphothreonine (By similarity).Swiss-Prot 53.0
2672PhosphoserinePhospho.ELM 6.0
2672Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
30O-linkedHMM predict
30Phosphoserine(CDC2)HMM predict
30Phosphoserine(CDK)HMM predict
129Phosphoserine(ATM)HMM predict
136Phosphoserine(ATM)HMM predict
140O-linkedHMM predict
140Phosphoserine(CK1)HMM predict
142Phosphotyrosine(EGFR)HMM predict
146O-linkedHMM predict
150Phosphoserine(CDC2)HMM predict
152O-linkedHMM predict
153O-linkedHMM predict
172Phosphoserine(CDC2)HMM predict
172Phosphoserine(IKK)HMM predict
172PhosphoserineHMM predict
176Phosphoserine(CDC2)HMM predict
186Phosphotyrosine(INSR)HMM predict
186Phosphotyrosine(Syk)HMM predict
193O-linkedHMM predict
194O-linkedHMM predict
205Phosphoserine(IKK)HMM predict
247Phosphotyrosine(INSR)HMM predict
247Phosphotyrosine(Jak)HMM predict
247Phosphotyrosine(Syk)HMM predict
256Phosphoserine(CK1)HMM predict
274Phosphoserine(CDC2)HMM predict
280O-linkedHMM predict
280Phosphoserine(CDC2)HMM predict
280Phosphoserine(MAPK)HMM predict
284O-linkedHMM predict
287Phosphothreonine(CDC2)HMM predict
306O-linkedHMM predict
306Phosphoserine(CDC2)HMM predict
339Phosphoserine(CK2)HMM predict
350Phosphoserine(CDC2)HMM predict
350Phosphoserine(CDK)HMM predict
384N-linkedHMM predict
388N-linkedHMM predict
421Phosphoserine(IKK)HMM predict
460Phosphoserine(ATM)HMM predict
466Phosphotyrosine(EGFR)HMM predict
492Phosphoserine(CK1)HMM predict
533N-linkedHMM predict
553Phosphoserine(PKA)HMM predict
592Phosphothreonine(CDC2)HMM predict
599Phosphothreonine(CDC2)HMM predict
599Phosphothreonine(MAPK)HMM predict
599Phosphothreonine(CDK)HMM predict
609Phosphoserine(CK1)HMM predict
648Phosphothreonine(CK2)HMM predict
654N-linkedHMM predict
658Phosphothreonine(PKC)HMM predict
664N-linkedHMM predict
695Phosphothreonine(PKC)HMM predict
702Phosphothreonine(CDC2)HMM predict
702Phosphothreonine(MAPK)HMM predict
702Phosphothreonine(CDK)HMM predict
702PhosphothreonineHMM predict
713Phosphothreonine(CDC2)HMM predict
713Phosphothreonine(MAPK)HMM predict
713Phosphothreonine(CDK)HMM predict
713PhosphothreonineHMM predict
724Phosphothreonine(CDC2)HMM predict
724Phosphothreonine(MAPK)HMM predict
724Phosphothreonine(CDK)HMM predict
735Phosphothreonine(CDC2)HMM predict
735Phosphothreonine(MAPK)HMM predict
735Phosphothreonine(CDK)HMM predict
746Phosphothreonine(CDC2)HMM predict
746Phosphothreonine(MAPK)HMM predict
746Phosphothreonine(CDK)HMM predict
746PhosphothreonineHMM predict
757Phosphothreonine(PKC)HMM predict
757Phosphothreonine(CDC2)HMM predict
757Phosphothreonine(MAPK)HMM predict
757Phosphothreonine(CDK)HMM predict
768Phosphoserine(PKG)HMM predict
773Phosphothreonine(PKC)HMM predict
809Phosphoserine(IKK)HMM predict
811Phosphoserine(CAMK2)HMM predict
845Phosphothreonine(PKC)HMM predict
848Phosphoserine(CDC2)HMM predict
861Phosphoserine(CK1)HMM predict
874Phosphoserine(PKB)HMM predict
883O-linkedHMM predict
883Phosphoserine(ATM)HMM predict
883PhosphoserineHMM predict
892Phosphoserine(CDC2)HMM predict
901N-linkedHMM predict
912Phosphoserine(CDC2)HMM predict
912Phosphoserine(CDK)HMM predict
924N-linkedHMM predict
968N-linkedHMM predict
1026Phosphoserine(CDC2)HMM predict
1077Phosphoserine(PKG)HMM predict
1077Phosphoserine(PKB)HMM predict
1077Phosphoserine(PKA)HMM predict
1078Phosphothreonine(PKG)HMM predict
1078Phosphothreonine(PKC)HMM predict
1085Phosphotyrosine(INSR)HMM predict
1089Phosphoserine(CK2)HMM predict
1090Phosphoserine(CK1)HMM predict
1094N-linkedHMM predict
1131Phosphoserine(CK1)HMM predict
1140Phosphoserine(PKG)HMM predict
1148N-linkedHMM predict
1150Phosphoserine(CDC2)HMM predict
1150Phosphoserine(PKB)HMM predict
1154Phosphoserine(CK2)HMM predict
1159Phosphotyrosine(Syk)HMM predict
1160Phosphoserine(ATM)HMM predict
1160Phosphoserine(IKK)HMM predict
1189Phosphothreonine(MAPK)HMM predict
1203Phosphothreonine(PKA)HMM predict
1277Phosphoserine(IKK)HMM predict
1287N-linkedHMM predict
1289Phosphothreonine(CK2)HMM predict
1445Phosphotyrosine(EGFR)HMM predict
1465Phosphothreonine(PKC)HMM predict
1476N-linkedHMM predict
1486Phosphotyrosine(EGFR)HMM predict
1486Phosphotyrosine(INSR)HMM predict
1486Phosphotyrosine(SRC)HMM predict
1511Phosphoserine(CK2)HMM predict
1558Phosphotyrosine(EGFR)HMM predict
1558Phosphotyrosine(Syk)HMM predict
1612Phosphotyrosine(Jak)HMM predict
1615Phosphothreonine(PKC)HMM predict
1642Phosphoserine(CK2)HMM predict
1694Phosphoserine(ATM)HMM predict
1700Phosphoserine(CK1)HMM predict
1700Phosphoserine(CK2)HMM predict
1701Phosphoserine(CK1)HMM predict
1823N-linkedHMM predict
1849Phosphotyrosine(Syk)HMM predict
1907N-linkedHMM predict
1927Phosphothreonine(PKC)HMM predict
1932N-linkedHMM predict
1962Phosphoserine(CK1)HMM predict
1964Phosphotyrosine(Syk)HMM predict
2032Phosphothreonine(PKC)HMM predict
2129N-linkedHMM predict
2130N-linkedHMM predict
2364Phosphoserine(PKG)HMM predict
2365Phosphotyrosine(Jak)HMM predict
2396Phosphotyrosine(Abl)HMM predict
2442Phosphothreonine(PKC)HMM predict
2462Phosphoserine(IKK)HMM predict
2483Phosphoserine(PKG)HMM predict
2483Phosphoserine(CDC2)HMM predict
2483Phosphoserine(PKB)HMM predict
2483PhosphoserineHMM predict
2485Phosphoserine(CK1)HMM predict
2488N-linkedHMM predict
2490Phosphoserine(CK2)HMM predict
2491Phosphoserine(CK1)HMM predict
2491Phosphoserine(CK2)HMM predict
2491Phosphoserine(ATM)HMM predict
2493Phosphoserine(CK1)HMM predict
2509Phosphoserine(CK1)HMM predict
2511Phosphoserine(CK1)HMM predict
2513Phosphoserine(CK1)HMM predict
2513Phosphoserine(CK2)HMM predict
2513Phosphoserine(ATM)HMM predict
2515Phosphoserine(CK1)HMM predict
2515Phosphoserine(CK2)HMM predict
2568Phosphoserine(IKK)HMM predict
2570Phosphoserine(CK2)HMM predict
2593Phosphothreonine(PKC)HMM predict
2613Phosphoserine(PKG)HMM predict
2658Phosphoserine(CDC2)HMM predict
2661N-linkedHMM predict
2662N-linkedHMM predict
2672Phosphoserine(CK1)HMM predict
2672Phosphoserine(CK2)HMM predict
2672Phosphoserine(ATM)HMM predict
2677MethylarginineHMM predict
2692Phosphoserine(PKA)HMM predict
2692Phosphoserine(CK1)HMM predict
2692Phosphoserine(CK2)HMM predict
2704Phosphoserine(ATM)HMM predict
2736Phosphoserine(ATM)HMM predict
2791Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015384
  • Location:chr5 36912741-37100055
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 36906389 36906606 217 6244
CTCF CD4SISSRdata 36906389 36906606 217 6244
CTCF G2GSE9613 36911226 36913384 2158 437
ETS1 JurkatGSE17954 36911582 36912978 1396 462
GABP k562GSE8489 36909771 36912593 2822 1560
H3K4me3 colorectalcancer 36911369 36912213 844 951
H3ac HepG2E 36910889 36912254 1365 1170
Nanog hESGSE18292 36895574 36895856 282 17027
PHF8 293TGSE20725 36911429 36913591 2162 232
PHF8 HeLaGSE20725 36910950 36914511 3561 11
Pol2 GM12878GSE19551 36911592 36912950 1358 471
TAF HelaGSE8489 36911250 36912394 1144 920
TAF k562GSE8489 36910315 36912254 1939 1457
hScc1 BcellGSE12603 36911438 36912213 775 916
hScc1 CdLSGSE12603 36911624 36912144 520 858
p130 QuiescentGSE19898 36912505 36912701 196 139
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37041805 37042090 285 0
CTCF CD4SISSRdata 37041805 37042090 285 0
CTCF G2GSE9613 36921524 36922427 903 0
CTCF G2GSE9613 36980210 36980549 339 0
CTCF G2GSE9613 37041806 37042155 349 0
ER E2-MCF7GSE14664 37006431 37006464 33 0
ER E2-MCF7GSE14664 37015260 37015306 46 0
GABP k562GSE8489 36913525 36914436 911 0
H3K4me3 colorectalcancer 36913424 36914545 1121 0
H3ac HepG2E 36913185 36915078 1893 0
KLF4 hESGSE17917 36912678 36912835 157 0
KLF4 hESGSE17917 36914781 36914973 192 0
Oct1 H2O2-HelaGSE14283 37032518 37032545 27 0
Oct1 H2O2-HelaGSE14283 37052880 37052916 36 0
Oct1 H2O2-HelaGSE14283 37054691 37054717 26 0
Oct1 HelaGSE14283 36952607 36952678 71 0
Oct1 HelaGSE14283 37004241 37004268 27 0
Oct1 HelaGSE14283 37025313 37025340 27 0
Oct1 HelaGSE14283 37049250 37049279 29 0
Oct1 HelaGSE14283 37052880 37052915 35 0
Oct1 HelaGSE14283 37058203 37058246 43 0
Oct1 HelaGSE14283 37066423 37066468 45 0
Oct1 HelaGSE14283 37085337 37085365 28 0
Rb GrowingGSE19898 36920194 36920370 176 0
TAF HelaGSE8489 36913448 36914369 921 0
TAF HelaGSE8489 36920098 36920645 547 0
TAF k562GSE8489 36913559 36914586 1027 0
TFAP2C MCF7GSE21234 36921756 36922247 491 0
TFAP2C MCF7GSE21234 36994649 36994989 340 0
hScc1 BcellGSE12603 36912705 36913310 605 0
hScc1 BcellGSE12603 36921698 36922427 729 0
hScc1 BcellGSE12603 37090098 37090242 144 0
hScc1 CdLSGSE12603 37041837 37042187 350 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-210 hsa-mir-210 11 19826008
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
20853 mRNA NIPBL chr5 36912741 37101678 169 EST chr5 37100064 37100554Sense/Antisense (SA) pairs

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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