Evidence Details for NOTCH4
Basic Information Top
| Gene Symbol: | NOTCH4 ( FLJ16302,INT3,MGC74442,NOTCH3 ) |
|---|---|
| Gene Full Name: | notch 4 |
| Band: | 6p21.32 |
| Quick Links | Entrez ID:4855; OMIM: 164951; Uniprot ID:NOTC4_HUMAN; ENSEMBL ID: ENSG00000204301; HGNC ID: 7884 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NOTCH4|4855|nucleotide
ATGCAGCCCCCTTCACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTATGTGTCTCAGTGGTCAGACCCAGAGGGCTGCTGTGTGGGAGTTTCCCAGAACCCTGT
GCCAATGGAGGCACCTGCCTGAGCCTGTCTCTGGGACAAGGGACCTGCCAGTGTGCCCCTGGCTTCCTGGGTGAGACGTGCCAGTTTCCTGACCCCTGCCAGAAC
GCCCAGCTCTGCCAAAATGGAGGCAGCTGCCAAGCCCTGCTTCCCGCTCCCCTAGGGCTCCCCAGCTCTCCCTCTCCATTGACACCCAGCTTCTTGTGCACTTGC
CTCCCTGGCTTCACTGGTGAGAGATGCCAGGCCAAGCTTGAAGACCCTTGTCCTCCCTCCTTCTGTTCCAAAAGGGGCCGCTGCCACATCCAGGCCTCGGGCCGC
CCACAGTGCTCCTGCATGCCTGGATGGACAGGTGAGCAGTGCCAGCTTCGGGACTTCTGTTCAGCCAACCCATGTGTTAATGGAGGGGTGTGTCTGGCCACATAC
CCCCAGATCCAGTGCCACTGCCCACCGGGCTTCGAGGGCCATGCCTGTGAACGTGATGTCAACGAGTGCTTCCAGGACCCAGGACCCTGCCCCAAAGGCACCTCC
TGCCATAACACCCTGGGCTCCTTCCAGTGCCTCTGCCCTGTGGGGCAGGAGGGTCCACGTTGTGAGCTGCGGGCAGGACCCTGCCCTCCTAGGGGCTGTTCGAAT
GGGGGCACCTGCCAGCTGATGCCAGAGAAAGACTCCACCTTTCACCTCTGCCTCTGTCCCCCAGGTTTCATAGGCCCAGACTGTGAGGTGAATCCAGACAACTGT
GTCAGCCACCAGTGTCAGAATGGGGGCACTTGCCAGGATGGGCTGGACACCTACACCTGCCTCTGCCCAGAAACCTGGACAGGCTGGGACTGCTCCGAAGATGTG
GATGAGTGTGAGACCCAGGGTCCCCCTCACTGCAGAAACGGGGGCACCTGCCAGAACTCTGCTGGTAGCTTTCACTGCGTGTGTGTGAGTGGCTGGGGCGGCACA
AGCTGTGAGGAGAACCTGGATGACTGTATTGCTGCCACCTGTGCCCCGGGATCCACCTGCATTGACCGGGTGGGCTCTTTCTCCTGCCTCTGCCCACCTGGACGC
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ATGCAGCCCCCTTCACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTATGTGTCTCAGTGGTCAGACCCAGAGGGCTGCTGTGTGGGAGTTTCCCAGAACCCTGT
GCCAATGGAGGCACCTGCCTGAGCCTGTCTCTGGGACAAGGGACCTGCCAGTGTGCCCCTGGCTTCCTGGGTGAGACGTGCCAGTTTCCTGACCCCTGCCAGAAC
GCCCAGCTCTGCCAAAATGGAGGCAGCTGCCAAGCCCTGCTTCCCGCTCCCCTAGGGCTCCCCAGCTCTCCCTCTCCATTGACACCCAGCTTCTTGTGCACTTGC
CTCCCTGGCTTCACTGGTGAGAGATGCCAGGCCAAGCTTGAAGACCCTTGTCCTCCCTCCTTCTGTTCCAAAAGGGGCCGCTGCCACATCCAGGCCTCGGGCCGC
CCACAGTGCTCCTGCATGCCTGGATGGACAGGTGAGCAGTGCCAGCTTCGGGACTTCTGTTCAGCCAACCCATGTGTTAATGGAGGGGTGTGTCTGGCCACATAC
CCCCAGATCCAGTGCCACTGCCCACCGGGCTTCGAGGGCCATGCCTGTGAACGTGATGTCAACGAGTGCTTCCAGGACCCAGGACCCTGCCCCAAAGGCACCTCC
TGCCATAACACCCTGGGCTCCTTCCAGTGCCTCTGCCCTGTGGGGCAGGAGGGTCCACGTTGTGAGCTGCGGGCAGGACCCTGCCCTCCTAGGGGCTGTTCGAAT
GGGGGCACCTGCCAGCTGATGCCAGAGAAAGACTCCACCTTTCACCTCTGCCTCTGTCCCCCAGGTTTCATAGGCCCAGACTGTGAGGTGAATCCAGACAACTGT
GTCAGCCACCAGTGTCAGAATGGGGGCACTTGCCAGGATGGGCTGGACACCTACACCTGCCTCTGCCCAGAAACCTGGACAGGCTGGGACTGCTCCGAAGATGTG
GATGAGTGTGAGACCCAGGGTCCCCCTCACTGCAGAAACGGGGGCACCTGCCAGAACTCTGCTGGTAGCTTTCACTGCGTGTGTGTGAGTGGCTGGGGCGGCACA
AGCTGTGAGGAGAACCTGGATGACTGTATTGCTGCCACCTGTGCCCCGGGATCCACCTGCATTGACCGGGTGGGCTCTTTCTCCTGCCTCTGCCCACCTGGACGC
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>NOTCH4|4855|protein
MQPPSLLLLLLLLLLLCVSVVRPRGLLCGSFPEPCANGGTCLSLSLGQGTCQCAPGFLGETCQFPDPCQNAQLCQNGGSCQALLPAPLGLPSSPSPLTPSFLCTC
LPGFTGERCQAKLEDPCPPSFCSKRGRCHIQASGRPQCSCMPGWTGEQCQLRDFCSANPCVNGGVCLATYPQIQCHCPPGFEGHACERDVNECFQDPGPCPKGTS
CHNTLGSFQCLCPVGQEGPRCELRAGPCPPRGCSNGGTCQLMPEKDSTFHLCLCPPGFIGPDCEVNPDNCVSHQCQNGGTCQDGLDTYTCLCPETWTGWDCSEDV
DECETQGPPHCRNGGTCQNSAGSFHCVCVSGWGGTSCEENLDDCIAATCAPGSTCIDRVGSFSCLCPPGRTGLLCHLEDMCLSQPCHGDAQCSTNPLTGSTLCLC
QPGYSGPTCHQDLDECLMAQQGPSPCEHGGSCLNTPGSFNCLCPPGYTGSRCEADHNECLSQPCHPGSTCLDLLATFHCLCPPGLEGQLCEVETNECASAPCLNH
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MQPPSLLLLLLLLLLLCVSVVRPRGLLCGSFPEPCANGGTCLSLSLGQGTCQCAPGFLGETCQFPDPCQNAQLCQNGGSCQALLPAPLGLPSSPSPLTPSFLCTC
LPGFTGERCQAKLEDPCPPSFCSKRGRCHIQASGRPQCSCMPGWTGEQCQLRDFCSANPCVNGGVCLATYPQIQCHCPPGFEGHACERDVNECFQDPGPCPKGTS
CHNTLGSFQCLCPVGQEGPRCELRAGPCPPRGCSNGGTCQLMPEKDSTFHLCLCPPGFIGPDCEVNPDNCVSHQCQNGGTCQDGLDTYTCLCPETWTGWDCSEDV
DECETQGPPHCRNGGTCQNSAGSFHCVCVSGWGGTSCEENLDDCIAATCAPGSTCIDRVGSFSCLCPPGRTGLLCHLEDMCLSQPCHGDAQCSTNPLTGSTLCLC
QPGYSGPTCHQDLDECLMAQQGPSPCEHGGSCLNTPGSFNCLCPPGYTGSRCEADHNECLSQPCHPGSTCLDLLATFHCLCPPGLEGQLCEVETNECASAPCLNH
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (2) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| ASIAN | |||||||||||
| Koishi, 2004_1 | Japan | ABI 377 sequencer, PCR-RFLP | | | ASD | 17.38±10.39 - |
- | 95 (13.68%) |
27.86±3.9 - | ||
Large Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.