AutismKB 2.0

Annotation Detail for NUMBL


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Basic Information Top
Gene Symbol:NUMBL ( CAG3A,CTG3a,NBL,NUMB-R,NUMBLIKE,NUMBR,TNRC23 )
Gene Full Name: numb homolog (Drosophila)-like
Band: 19q13.2
Quick LinksEntrez ID:9253; OMIM: 604018; Uniprot ID:NUMBL_HUMAN; ENSEMBL ID: ENSG00000105245; HGNC ID: 8061
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
263Phosphoserine.
268Phosphothreonine.
279Phosphothreonine.
411Phosphoserine.
Location(AA) Modifications Resource
263Phosphoserine.Swiss-Prot 53.0
263PhosphoserinePhospho.ELM 6.0
279Phosphothreonine (By similarity).Swiss-Prot 53.0
305PhosphoserinePhospho.ELM 6.0
324PhosphoserinePhospho.ELM 6.0
411Phosphoserine.Swiss-Prot 53.0
411PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
56Phosphotyrosine(Jak)HMM predict
77Phosphothreonine(PKA)HMM predict
145Phosphoserine(IKK)HMM predict
251O-linkedHMM predict
251O-linkedHMM predict
251O-linkedHMM predict
263Phosphoserine(CDC2)HMM predict
263O-linkedHMM predict
265Phosphothreonine(MAPK)HMM predict
265O-linkedHMM predict
268O-linkedHMM predict
269O-linkedHMM predict
269O-linkedHMM predict
270Phosphoserine(MAPK)HMM predict
270Phosphoserine(CDC2)HMM predict
274O-linkedHMM predict
313Phosphoserine(ATM)HMM predict
317Phosphoserine(CDC2)HMM predict
373O-linkedHMM predict
395O-linkedHMM predict
409Phosphothreonine(CDK)HMM predict
409Phosphothreonine(MAPK)HMM predict
449O-linkedHMM predict
455O-linkedHMM predict
547O-linkedHMM predict
551Phosphoserine(IKK)HMM predict
551Phosphoserine(ATM)HMM predict
589Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004756
  • Location:chr19 45863653-45888395
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45888277 45888727 450 107
hScc1 BcellGSE12603 45888206 45888800 594 108
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45860575 45860785 210 2974
CTCF CD4SISSRdata 45860575 45860785 210 2974
CTCF HelaGSE12889 45860590 45860864 274 2927
CTCF G2GSE9613 45860601 45860806 205 2950
Fos K562GSE19551 45848000 45848559 559 15374
Myc K562GSE19551 45860507 45861929 1422 2436
Myc hESGSE17917 45860434 45860802 368 3036
Oct1 HelaGSE14283 45850411 45850489 78 13204
Rb GrowingGSE19898 45861085 45861286 201 2468
Rb SenescentGSE19898 45861406 45861614 208 2144
USF1 HepG2E 45859953 45860271 318 3542
USF1 HepG2E 45861005 45861646 641 2328
USF2 HepG2E 45860052 45860271 219 3492
hScc1 BcellGSE12603 45860601 45860939 338 2884
hScc1 CdLSGSE12603 45860601 45861424 823 2641
p130 QuiescentGSE19898 45848769 45848924 155 14807
p130 QuiescentGSE19898 45861201 45861607 406 2250
p130 SenescentGSE19898 45861150 45861691 541 2233
p130 shRbQuiescentGSE19898 45861103 45861536 433 2334
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45887047 45887507 460 0
ER E2-MCF7GSE14664 45864489 45864527 38 0
Fos K562GSE19551 45863990 45864610 620 0
GABP k562GSE8489 45886119 45887252 1133 0
H3K4me2 HCT116GSE10453 45886231 45887252 1021 0
Oct1 H2O2-HelaGSE14283 45866045 45866072 27 0
Oct1 HelaGSE14283 45866042 45866076 34 0
SRF GMOGSE8489 45883254 45883861 607 0
SRF GMOGSE8489 45884224 45884585 361 0
SRF k562GSE8489 45885497 45887069 1572 0
TAF HelaGSE8489 45885427 45887069 1642 0
TAF k562GSE8489 45885357 45887252 1895 0
hScc1 BcellGSE12603 45882035 45882232 197 0
hScc1 BcellGSE12603 45885099 45885898 799 0
p130 QuiescentGSE19898 45887704 45887982 278 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 19296470
hsa-miR-122* hsa-mir-122 18 19296470
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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