AutismKB 2.0

Annotation Detail for NOTCH3


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Basic Information Top
Gene Symbol:NOTCH3 ( CADASIL,CASIL )
Gene Full Name: notch 3
Band: 19p13.12
Quick LinksEntrez ID:4854; OMIM: 600276; Uniprot ID:NOTC3_HUMAN; ENSEMBL ID: ENSG00000074181; HGNC ID: 7883
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1179N-linked (GlcNAc...) (Potential).
1336N-linked (GlcNAc...) (Potential).
1438N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
1179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1336N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1438N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
16Phosphoserine(CDC2)HMM predict
16Phosphoserine(IKK)HMM predict
16O-linkedHMM predict
125O-linkedHMM predict
177Phosphothreonine(MAPK)HMM predict
204Phosphoserine(CDC2)HMM predict
312Phosphoserine(ATM)HMM predict
423Phosphotyrosine(Abl)HMM predict
514Phosphothreonine(CDC2)HMM predict
554S-palmitoylHMM predict
664Phosphoserine(CDC2)HMM predict
683S-palmitoylHMM predict
776Phosphothreonine(CDC2)HMM predict
788Phosphoserine(IKK)HMM predict
907O-linkedHMM predict
911O-linkedHMM predict
916Phosphotyrosine(Abl)HMM predict
1079Phosphoserine(IKK)HMM predict
1106Phosphotyrosine(INSR)HMM predict
1179N-linkedHMM predict
1219Phosphothreonine(PKC)HMM predict
1234S-palmitoylHMM predict
1264Phosphoserine(MAPK)HMM predict
1264Phosphoserine(CDC2)HMM predict
1275S-palmitoylHMM predict
1307Phosphothreonine(CDC2)HMM predict
1326Phosphoserine(IKK)HMM predict
1330Phosphoserine(CDC2)HMM predict
1438N-linkedHMM predict
1439N-linkedHMM predict
1562O-linkedHMM predict
1751Phosphothreonine(PKA)HMM predict
1808PhosphothreonineHMM predict
1871Phosphoserine(IKK)HMM predict
1874Phosphothreonine(CDK)HMM predict
1874Phosphothreonine(MAPK)HMM predict
1881O-linkedHMM predict
1970Phosphoserine(CK2)HMM predict
1985Phosphotyrosine(SRC)HMM predict
2032Phosphoserine(IKK)HMM predict
2032Phosphoserine(ATM)HMM predict
2032Phosphoserine(CDK)HMM predict
2032O-linkedHMM predict
2032Phosphoserine(CDC2)HMM predict
2078MethylarginineHMM predict
2085Phosphothreonine(PKC)HMM predict
2085Phosphothreonine(PKA)HMM predict
2100Phosphoserine(CDC2)HMM predict
2100Phosphoserine(CDK)HMM predict
2100Phosphoserine(IKK)HMM predict
2117O-linkedHMM predict
2117Phosphoserine(MAPK)HMM predict
2145MethylarginineHMM predict
2200Phosphothreonine(CDC2)HMM predict
2203Phosphoserine(CDK)HMM predict
2203Phosphoserine(CDC2)HMM predict
2229Phosphoserine(ATM)HMM predict
2244Phosphotyrosine(Syk)HMM predict
2244Phosphotyrosine(Abl)HMM predict
2246O-linkedHMM predict
2246Phosphothreonine(MAPK)HMM predict
2248Phosphoserine(CDC2)HMM predict
2248O-linkedHMM predict
2267Phosphoserine(IKK)HMM predict
2269O-linkedHMM predict
2269O-linkedHMM predict
2270O-linkedHMM predict
2272Phosphoserine(CDC2)HMM predict
2272O-linkedHMM predict
2295Phosphoserine(IKK)HMM predict
2314Phosphothreonine(CDC2)HMM predict
2314Phosphothreonine(CDK)HMM predict
2314Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000435
  • Location:chr19 15131444-15172791
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 15182115 15182709 594 9621
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 15122308 15122516 208 9033
CTCF CD4SISSRdata 15122308 15122516 208 9033
CTCF JurkatGSE12889 15122309 15122607 298 8987
CTCF G2GSE9613 15122239 15122606 367 9022
Fos K562GSE19551 15130977 15131406 429 253
P300 T30-glioblastomaGSE21026 15122286 15122814 528 8895
TAFII hESGSE17917 15122358 15122589 231 8971
hScc1 BcellGSE12603 15121574 15121912 338 9702
hScc1 BcellGSE12603 15122170 15122606 436 9057
hScc1 CdLSGSE12603 15122239 15122606 367 9022
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 15149209 15149559 350 0
CTCF CD4SISSRdata 15149209 15149559 350 0
CTCF JurkatGSE12889 15133518 15133655 137 0
CTCF JurkatGSE12889 15149370 15149685 315 0
CTCF G2GSE9613 15133456 15133581 125 0
CTCF G2GSE9613 15171452 15171771 319 0
ER E2-MCF7GSE14664 15160004 15160038 34 0
Fos K562GSE19551 15138481 15138938 457 0
Fos K562GSE19551 15159434 15159836 402 0
H3K27me3 colorectalcancer 15170758 15170929 171 0
Oct1 H2O2-HelaGSE14283 15160001 15160041 40 0
Oct1 HelaGSE14283 15139074 15139106 32 0
Oct1 HelaGSE14283 15159999 15160044 45 0
RNAII Tamoxifen-MCF7GSE14664 15160003 15160045 42 0
TFAP2C MCF7GSE21234 15166930 15168182 1252 0
hScc1 BcellGSE12603 15149325 15150164 839 0
hScc1 BcellGSE12603 15151724 15151903 179 0
hScc1 BcellGSE12603 15152543 15152756 213 0
hScc1 BcellGSE12603 15153106 15153459 353 0
hScc1 BcellGSE12603 15171452 15171877 425 0
hScc1 BcellGSE12603 15172536 15173044 508 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-206 hsa-mir-206 6 19723635
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
12818 EST chr19 15131481 15132134 653 mRNA NOTCH3 chr19 15131444 15172792Sense/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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