AutismKB 2.0

Annotation Detail for NOTCH1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NOTCH1 ( TAN1,hN1 )
Gene Full Name: notch 1
Band: 9q34.3
Quick LinksEntrez ID:4851; OMIM: 190198; Uniprot ID:NOTC1_HUMAN; ENSEMBL ID: ENSG00000148400; HGNC ID: 7881
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
41N-linked (GlcNAc...) (Potential).
959N-linked (GlcNAc...) (Potential).
1179N-linked (GlcNAc...) (Potential).
1241N-linked (GlcNAc...) (Potential).
1489N-linked (GlcNAc...) (Potential).
1587N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
41N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
960N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1180N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1242N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1490N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1588N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphoserine(ATM)HMM predict
41N-linkedHMM predict
66Phosphothreonine(CDK)HMM predict
166S-palmitoylHMM predict
223Phosphoserine(CDK)HMM predict
225Phosphoserine(CDC2)HMM predict
410Phosphoserine(ATM)HMM predict
535Phosphothreonine(CDC2)HMM predict
708Phosphotyrosine(Syk)HMM predict
833S-palmitoylHMM predict
836Phosphoserine(CDC2)HMM predict
850Phosphotyrosine(EGFR)HMM predict
850Phosphotyrosine(Syk)HMM predict
850Phosphotyrosine(INSR)HMM predict
879S-palmitoylHMM predict
960N-linkedHMM predict
967O-linkedHMM predict
983N-linkedHMM predict
984N-linkedHMM predict
1010S-palmitoylHMM predict
1052Phosphotyrosine(Abl)HMM predict
1242N-linkedHMM predict
1282Phosphothreonine(PKC)HMM predict
1307Phosphoserine(PKG)HMM predict
1366O-linkedHMM predict
1370Phosphoserine(CDK)HMM predict
1407O-linkedHMM predict
1417S-palmitoylHMM predict
1490N-linkedHMM predict
1508Phosphoserine(IKK)HMM predict
1588N-linkedHMM predict
1652Phosphoserine(PKG)HMM predict
1696Phosphoserine(CDK)HMM predict
1739Phosphotyrosine(Jak)HMM predict
1845PhosphothreonineHMM predict
1901Phosphoserine(CK2)HMM predict
1923N-linkedHMM predict
1964Phosphothreonine(MAPK)HMM predict
2075Phosphotyrosine(SRC)HMM predict
2137O-linkedHMM predict
2142Phosphoserine(MAPK)HMM predict
2184Phosphoserine(PKG)HMM predict
2199Phosphoserine(ATM)HMM predict
2203Phosphoserine(CK1)HMM predict
2216Phosphoserine(MAPK)HMM predict
2222Phosphoserine(CDC2)HMM predict
2285O-linkedHMM predict
2296N-linkedHMM predict
2338O-linkedHMM predict
2338O-linkedHMM predict
2376Phosphothreonine(PKA)HMM predict
2376Phosphothreonine(PKC)HMM predict
2423O-linkedHMM predict
2467O-linkedHMM predict
2467O-linkedHMM predict
2468Phosphoserine(IKK)HMM predict
2472Phosphoserine(IKK)HMM predict
2472O-linkedHMM predict
2484Phosphothreonine(MAPK)HMM predict
2490Phosphoserine(IKK)HMM predict
2491Phosphotyrosine(Abl)HMM predict
2491Phosphotyrosine(INSR)HMM predict
2492O-linkedHMM predict
2492Phosphoserine(CK1)HMM predict
2493O-linkedHMM predict
2493Phosphoserine(CDC2)HMM predict
2498Phosphothreonine(MAPK)HMM predict
2498Phosphothreonine(CDK)HMM predict
2512Phosphothreonine(MAPK)HMM predict
2512O-linkedHMM predict
2514Phosphoserine(CDC2)HMM predict
2514Phosphoserine(MAPK)HMM predict
2514O-linkedHMM predict
2514Phosphoserine(ATM)HMM predict
2522Phosphoserine(IKK)HMM predict
2524O-linkedHMM predict
2525Phosphoserine(CDC2)HMM predict
2528Phosphoserine(IKK)HMM predict
2529N-linkedHMM predict
2539Phosphoserine(CDC2)HMM predict
2539O-linkedHMM predict
2543Phosphoserine(MAPK)HMM predict
2556LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017617
  • Location:chr9 138508716-138560058
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12892GSE19485 138559080 138561368 2288 166
NFkBII GM15510GSE19485 138559777 138561368 1591 514
NFkBII GM18526GSE19485 138559008 138561283 2275 87
TFAP2C MCF7GSE21234 138560348 138560787 439 509
TFAP2C MCF7GSE21234 138561016 138562018 1002 1459
TFAP2C MCF7GSE21234 138564644 138566058 1414 5293
VDR GM10855-UnstimGSE22484 138560089 138561712 1623 842
VDR GM10855-stimGSE22484 138559946 138561474 1528 652
hScc1 BcellGSE12603 138577446 138577704 258 17517
p130 QuiescentGSE19898 138578968 138579188 220 19020
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 138504751 138505067 316 3808
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 138518926 138522190 3264 0
CBP JurkatGSE17954 138542262 138545423 3161 0
CBP JurkatGSE17954 138552336 138554695 2359 0
ETS1 JurkatGSE17954 138552795 138554402 1607 0
Gata2 K562GSE18868 138525992 138526671 679 0
Myc K562GSE19551 138525891 138526516 625 0
NFkBII GM10847GSE19485 138558475 138561441 2966 0
Rb GrowingGSE19898 138516230 138516380 150 0
TFAP2C MCF7GSE21234 138545173 138545781 608 0
USF1 HepG2E 138557366 138558389 1023 0
USF2 HepG2E 138557366 138558532 1166 0
hScc1 BcellGSE12603 138518861 138519384 523 0
hScc1 BcellGSE12603 138520691 138520923 232 0
hScc1 BcellGSE12603 138522780 138523112 332 0
hScc1 BcellGSE12603 138524390 138525320 930 0
hScc1 BcellGSE12603 138534323 138534694 371 0
hScc1 BcellGSE12603 138535038 138535233 195 0
hScc1 BcellGSE12603 138535763 138536139 376 0
hScc1 BcellGSE12603 138536803 138537056 253 0
hScc1 BcellGSE12603 138544473 138544874 401 0
hScc1 BcellGSE12603 138545580 138546199 619 0
hScc1 BcellGSE12603 138548932 138549222 290 0
hScc1 BcellGSE12603 138552386 138553217 831 0
hScc1 BcellGSE12603 138554480 138555255 775 0
hScc1 BcellGSE12603 138557439 138557834 395 0
hScc1 BcellGSE12603 138558802 138558976 174 0
hScc1 BcellGSE12603 138559367 138560586 1219 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-127-3p hsa-mir-127 14 18942116
hsa-miR-127-3p hsa-mir-127 14 18942116
hsa-miR-127-5p hsa-mir-127 14 18942116
hsa-miR-127-5p hsa-mir-127 14 18942116
hsa-miR-129* hsa-mir-129-1 7 17150773
hsa-miR-129* hsa-mir-129-1 7 17150773
hsa-miR-129-3p hsa-mir-129-2 11 17150773
hsa-miR-129-3p hsa-mir-129-2 11 17150773
hsa-miR-129-5p hsa-mir-129-1 7 17150773
hsa-miR-129-5p hsa-mir-129-2 11 17150773
hsa-miR-129-5p hsa-mir-129-1 7 17150773
hsa-miR-129-5p hsa-mir-129-2 11 17150773
hsa-miR-155 hsa-mir-155 21 21130073
hsa-miR-155 hsa-mir-155 21 21130073
hsa-miR-155* hsa-mir-155 21 21130073
hsa-miR-155* hsa-mir-155 21 21130073
hsa-miR-181b hsa-mir-181b-1 1 20347265
hsa-miR-181b hsa-mir-181b-2 9 20347265
hsa-miR-181b hsa-mir-181b-1 1 20347265
hsa-miR-181b hsa-mir-181b-2 9 20347265
hsa-miR-190 hsa-mir-190 15 20554861
hsa-miR-190 hsa-mir-190 15 20554861
hsa-miR-1909 hsa-mir-1909 19 21042738
hsa-miR-1909 hsa-mir-1909 19 21042738
hsa-miR-1909* hsa-mir-1909 19 21042738
hsa-miR-1909* hsa-mir-1909 19 21042738
hsa-miR-1915 hsa-mir-1915 10 21042738
hsa-miR-1915 hsa-mir-1915 10 21042738
hsa-miR-1915* hsa-mir-1915 10 21042738
hsa-miR-1915* hsa-mir-1915 10 21042738
hsa-miR-198 hsa-mir-198 0 20347265
hsa-miR-198 hsa-mir-198 0 20347265
hsa-miR-200b hsa-mir-200b 1 18942116
hsa-miR-200b hsa-mir-200b 1 18942116
hsa-miR-200b* hsa-mir-200b 1 18942116
hsa-miR-200b* hsa-mir-200b 1 18942116
hsa-miR-206 hsa-mir-206 6 20347265
hsa-miR-206 hsa-mir-206 6 20347265
hsa-miR-23b hsa-mir-23b 9 17150773
hsa-miR-23b hsa-mir-23b 9 17150773
hsa-miR-23b* hsa-mir-23b 9 17150773
hsa-miR-23b* hsa-mir-23b 9 17150773
hsa-miR-24 hsa-mir-24-1 9 20347265
hsa-miR-24 hsa-mir-24-2 19 20347265
hsa-miR-24 hsa-mir-24-1 9 17150773
hsa-miR-24 hsa-mir-24-2 19 17150773
hsa-miR-24 hsa-mir-24-1 9 20347265
hsa-miR-24 hsa-mir-24-2 19 20347265
hsa-miR-24 hsa-mir-24-1 9 17150773
hsa-miR-24 hsa-mir-24-2 19 17150773
hsa-miR-24-1* hsa-mir-24-1 9 20347265
hsa-miR-24-1* hsa-mir-24-1 9 20347265
hsa-miR-24-2* hsa-mir-24-2 19 20347265
hsa-miR-24-2* hsa-mir-24-2 19 20347265
hsa-miR-26b hsa-mir-26b 2 20347265
hsa-miR-26b hsa-mir-26b 2 20347265
hsa-miR-26b* hsa-mir-26b 2 20347265
hsa-miR-26b* hsa-mir-26b 2 20347265
hsa-miR-27b hsa-mir-27b 9 17150773
hsa-miR-27b hsa-mir-27b 9 17150773
hsa-miR-27b* hsa-mir-27b 9 17150773
hsa-miR-27b* hsa-mir-27b 9 17150773
hsa-miR-30a hsa-mir-30a 6 16574096
hsa-miR-30a hsa-mir-30a 6 17150773
hsa-miR-30a hsa-mir-30a 6 16574096
hsa-miR-30a hsa-mir-30a 6 17150773
hsa-miR-30a* hsa-mir-30a 6 16574096
hsa-miR-30a* hsa-mir-30a 6 17150773
hsa-miR-30a* hsa-mir-30a 6 16574096
hsa-miR-30a* hsa-mir-30a 6 17150773
hsa-miR-30b hsa-mir-30b 8 20347265
hsa-miR-30b hsa-mir-30b 8 16574096
hsa-miR-30b hsa-mir-30b 8 20347265
hsa-miR-30b hsa-mir-30b 8 16574096
hsa-miR-30b* hsa-mir-30b 8 20347265
hsa-miR-30b* hsa-mir-30b 8 16574096
hsa-miR-30b* hsa-mir-30b 8 20347265
hsa-miR-30b* hsa-mir-30b 8 16574096
hsa-miR-30c hsa-mir-30c-2 6 16574096
hsa-miR-30c hsa-mir-30c-1 1 16574096
hsa-miR-30c hsa-mir-30c-2 6 16574096
hsa-miR-30c hsa-mir-30c-1 1 16574096
hsa-miR-30c-1* hsa-mir-30c-1 1 16574096
hsa-miR-30c-1* hsa-mir-30c-1 1 16574096
hsa-miR-30c-2* hsa-mir-30c-2 6 16574096
hsa-miR-30c-2* hsa-mir-30c-2 6 16574096
hsa-miR-30d hsa-mir-30d 8 16574096
hsa-miR-30d hsa-mir-30d 8 16574096
hsa-miR-30d* hsa-mir-30d 8 16574096
hsa-miR-30d* hsa-mir-30d 8 16574096
hsa-miR-30e hsa-mir-30e 1 20347265
hsa-miR-30e hsa-mir-30e 1 16574096
hsa-miR-30e hsa-mir-30e 1 20347265
hsa-miR-30e hsa-mir-30e 1 16574096
hsa-miR-30e* hsa-mir-30e 1 20347265
hsa-miR-30e* hsa-mir-30e 1 16574096
hsa-miR-30e* hsa-mir-30e 1 20347265
hsa-miR-30e* hsa-mir-30e 1 16574096
hsa-miR-320d hsa-mir-320d-1 13 21130073
hsa-miR-320d hsa-mir-320d-2 X 21130073
hsa-miR-320d hsa-mir-320d-1 13 21130073
hsa-miR-320d hsa-mir-320d-2 X 21130073
hsa-miR-34a hsa-mir-34a 1 20351093
hsa-miR-34a hsa-mir-34a 1 18942116
hsa-miR-34a hsa-mir-34a 1 18823940
hsa-miR-34a hsa-mir-34a 1 19714243
hsa-miR-34a hsa-mir-34a 1 17150773
hsa-miR-34a hsa-mir-34a 1 20351093
hsa-miR-34a hsa-mir-34a 1 18942116
hsa-miR-34a hsa-mir-34a 1 18823940
hsa-miR-34a hsa-mir-34a 1 19714243
hsa-miR-34a hsa-mir-34a 1 17150773
hsa-miR-34a* hsa-mir-34a 1 20351093
hsa-miR-34a* hsa-mir-34a 1 18942116
hsa-miR-34a* hsa-mir-34a 1 18823940
hsa-miR-34a* hsa-mir-34a 1 19714243
hsa-miR-34a* hsa-mir-34a 1 17150773
hsa-miR-34a* hsa-mir-34a 1 20351093
hsa-miR-34a* hsa-mir-34a 1 18942116
hsa-miR-34a* hsa-mir-34a 1 18823940
hsa-miR-34a* hsa-mir-34a 1 19714243
hsa-miR-34a* hsa-mir-34a 1 17150773
hsa-miR-34b hsa-mir-34b 11 19714243
hsa-miR-34b hsa-mir-34b 11 19714243
hsa-miR-34b* hsa-mir-34b 11 19714243
hsa-miR-34b* hsa-mir-34b 11 19714243
hsa-miR-34c-3p hsa-mir-34c 11 19714243
hsa-miR-34c-3p hsa-mir-34c 11 19714243
hsa-miR-34c-5p hsa-mir-34c 11 19714243
hsa-miR-34c-5p hsa-mir-34c 11 19714243
hsa-miR-429 hsa-mir-429 1 21130073
hsa-miR-429 hsa-mir-429 1 21130073
hsa-miR-7 hsa-mir-7-1 9 18823940
hsa-miR-7 hsa-mir-7-2 15 18823940
hsa-miR-7 hsa-mir-7-3 19 18823940
hsa-miR-7 hsa-mir-7-1 9 18823940
hsa-miR-7 hsa-mir-7-2 15 18823940
hsa-miR-7 hsa-mir-7-3 19 18823940
hsa-miR-92a hsa-mir-92a-1 13 20347265
hsa-miR-92a hsa-mir-92a-2 X 20347265
hsa-miR-92a hsa-mir-92a-1 13 20347265
hsa-miR-92a hsa-mir-92a-2 X 20347265
hsa-miR-92a-1* hsa-mir-92a-1 13 20347265
hsa-miR-92a-1* hsa-mir-92a-1 13 20347265
hsa-miR-92a-2* hsa-mir-92a-2 X 20347265
hsa-miR-92a-2* hsa-mir-92a-2 X 20347265
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
564 mRNA repression TRUE miR-23b NOTCH1 in vitro reporter gene assay (Luciferase) 17150773
567 mRNA repression TRUE miR-24 NOTCH1 in vitro reporter gene assay (Luciferase) 17150773
578 mRNA repression TRUE miR-27b NOTCH1 in vitro reporter gene assay (Luciferase) 17150773
611 mRNA repression TRUE miR-34 NOTCH1 in vitro reporter gene assay (Luciferase) 14697198
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000148400 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000148400 "fibroblasts, G1-to-S transition" n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000148400 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000148400 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved