AutismKB 2.0

Annotation Detail for NUMB


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Basic Information Top
Gene Symbol:NUMB ( S171 )
Gene Full Name: numb homolog (Drosophila)
Band: 14q24.3
Quick LinksEntrez ID:8650; OMIM: 603728; Uniprot ID:NUMB_HUMAN; ENSEMBL ID: ENSG00000133961; HGNC ID: 8060
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
240Phosphoserine.
241Phosphoserine.
244Phosphoserine.
276Phosphoserine.
295Phosphoserine.
631Phosphothreonine (By similarity).
634Phosphoserine.
Location(AA) Modifications Resource
276Phosphoserine.Swiss-Prot 53.0
295Phosphoserine.Swiss-Prot 53.0
438PhosphoserinePhospho.ELM 6.0
631Phosphothreonine (By similarity).Swiss-Prot 53.0
634Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphotyrosine(Jak)HMM predict
15Phosphotyrosine(INSR)HMM predict
34Phosphothreonine(PKC)HMM predict
115Phosphoserine(IKK)HMM predict
198O-linkedHMM predict
235O-linkedHMM predict
238Phosphoserine(CDC2)HMM predict
238O-linkedHMM predict
238Phosphoserine(CDK)HMM predict
240Phosphoserine(CK1)HMM predict
240O-linkedHMM predict
241Phosphoserine(IKK)HMM predict
241Phosphoserine(CDC2)HMM predict
243O-linkedHMM predict
244Phosphoserine(MAPK)HMM predict
244Phosphoserine(CDC2)HMM predict
244PhosphoserineHMM predict
244Phosphoserine(IKK)HMM predict
244O-linkedHMM predict
246O-linkedHMM predict
247O-linkedHMM predict
284Phosphoserine(ATM)HMM predict
288Phosphoserine(CDC2)HMM predict
339Phosphoserine(CK2)HMM predict
340Phosphothreonine(CDC2)HMM predict
346O-linkedHMM predict
347O-linkedHMM predict
367N-linkedHMM predict
415O-linkedHMM predict
421O-linkedHMM predict
436Phosphothreonine(CDK)HMM predict
436Phosphothreonine(PKA)HMM predict
438Phosphoserine(PKB)HMM predict
459O-linkedHMM predict
480Phosphoserine(CDK)HMM predict
480Phosphoserine(CDC2)HMM predict
490Phosphoserine(ATM)HMM predict
561Phosphothreonine(PKC)HMM predict
568O-linkedHMM predict
571O-linkedHMM predict
573Phosphoserine(CDC2)HMM predict
584N-linkedHMM predict
590N-linkedHMM predict
625N-linkedHMM predict
632N-linkedHMM predict
634Phosphoserine(CDC2)HMM predict
637N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005743
  • Location:chr14 72811670-72995038
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 72999142 72999695 553 4380
H3ac HepG2E 72995106 72995763 657 396
H3ac HepG2E 72999103 72999533 430 4280
P300 T30-glioblastomaGSE21026 72994590 72995890 1300 202
RARA MCF7GSE15244 72995170 72995763 593 428
RARG MCF7GSE15244 72995066 72995763 697 376
Rb GrowingGSE19898 72995078 72995453 375 227
Rb SenescentGSE19898 72994920 72995198 278 21
TAF k562GSE8489 72995106 72995763 657 396
hScc1 BcellGSE12603 72998734 72998994 260 3826
p130 shRbSenescentGSE19898 72999738 73000213 475 4937
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 72981522 72982026 504 0
CTCF CD4GSE12889 72831733 72831949 216 0
CTCF CD4SISSRdata 72831733 72831949 216 0
ER E2-MCF7GSE14664 72931873 72931913 40 0
Fos K562GSE19551 72847844 72848343 499 0
FoxA1 MCF7MACSdata 72968640 72968865 225 0
H3K4me3 colorectalcancer 72993634 72994134 500 0
H3ac HepG2E 72993634 72994664 1030 0
Nanog ESGSE20650 72894665 72895083 418 0
Nanog hESGSE18292 72894568 72895037 469 0
Nanog hESGSE18292 72934339 72934585 246 0
Oct1 H2O2-HelaGSE14283 72993090 72993124 34 0
Oct1 HelaGSE14283 72885919 72885958 39 0
Oct1 HelaGSE14283 72957803 72957835 32 0
Oct1 HelaGSE14283 72993091 72993124 33 0
Rb GrowingGSE19898 72994889 72995051 162 0
Rb SenescentGSE19898 72993505 72993904 399 0
Sox2 hESGSE18292 72831673 72832187 514 0
TAF k562GSE8489 72993634 72993962 328 0
hScc1 BcellGSE12603 72993819 72995126 1307 0
hScc1 CdLSGSE12603 72993634 72995106 1472 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