Evidence Details for HES1
Basic Information Top
| Gene Symbol: | HES1 ( FLJ20408,HES-1,HHL,HRY,bHLHb39 ) |
|---|---|
| Gene Full Name: | hairy and enhancer of split 1, (Drosophila) |
| Band: | 3q29 |
| Quick Links | Entrez ID:3280; OMIM: 139605; Uniprot ID:HES1_HUMAN; ENSEMBL ID: ENSG00000114315; HGNC ID: 5192 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HES1|3280|nucleotide
ATGCCAGCTGATATAATGGAGAAAAATTCCTCGTCCCCGGTGGCTGCTACCCCAGCCAGTGTCAACACGACACCGGATAAACCAAAGACAGCATCTGAGCACAGA
AAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATAGCTCG
CGGCATTCCAAGCTGGAGAAGGCGGACATTCTGGAAATGACAGTGAAGCACCTCCGGAACCTGCAGCGGGCGCAGATGACGGCTGCGCTGAGCACAGACCCAAGT
GTGCTGGGGAAGTACCGAGCCGGCTTCAGCGAGTGCATGAACGAGGTGACCCGCTTCCTGTCCACGTGCGAGGGCGTTAATACCGAGGTGCGCACTCGGCTGCTC
GGCCACCTGGCCAACTGCATGACCCAGATCAATGCCATGACCTACCCCGGGCAGCCGCACCCCGCCTTGCAGGCGCCGCCACCGCCCCCACCGGGACCCGGCGGC
CCCCAGCACGCGCCGTTCGCGCCGCCGCCGCCACTCGTGCCCATCCCCGGGGGCGCGGCGCCCCCTCCCGGCGGCGCCCCCTGCAAGCTGGGCAGCCAGGCTGGA
GAGGCGGCTAAGGTGTTTGGAGGCTTCCAGGTGGTACCGGCTCCCGATGGCCAGTTTGCTTTCCTCATTCCCAACGGGGCCTTCGCGCACAGCGGCCCTGTCATC
CCCGTCTACACCAGCAACAGCGGCACCTCCGTGGGCCCCAACGCAGTGTCACCTTCCAGCGGCCCCTCGCTTACGGCGGACTCCATGTGGAGGCCGTGGCGGAAC
TGA
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ATGCCAGCTGATATAATGGAGAAAAATTCCTCGTCCCCGGTGGCTGCTACCCCAGCCAGTGTCAACACGACACCGGATAAACCAAAGACAGCATCTGAGCACAGA
AAGTCATCAAAGCCTATTATGGAGAAAAGACGAAGAGCAAGAATAAATGAAAGTCTGAGCCAGCTGAAAACACTGATTTTGGATGCTCTGAAGAAAGATAGCTCG
CGGCATTCCAAGCTGGAGAAGGCGGACATTCTGGAAATGACAGTGAAGCACCTCCGGAACCTGCAGCGGGCGCAGATGACGGCTGCGCTGAGCACAGACCCAAGT
GTGCTGGGGAAGTACCGAGCCGGCTTCAGCGAGTGCATGAACGAGGTGACCCGCTTCCTGTCCACGTGCGAGGGCGTTAATACCGAGGTGCGCACTCGGCTGCTC
GGCCACCTGGCCAACTGCATGACCCAGATCAATGCCATGACCTACCCCGGGCAGCCGCACCCCGCCTTGCAGGCGCCGCCACCGCCCCCACCGGGACCCGGCGGC
CCCCAGCACGCGCCGTTCGCGCCGCCGCCGCCACTCGTGCCCATCCCCGGGGGCGCGGCGCCCCCTCCCGGCGGCGCCCCCTGCAAGCTGGGCAGCCAGGCTGGA
GAGGCGGCTAAGGTGTTTGGAGGCTTCCAGGTGGTACCGGCTCCCGATGGCCAGTTTGCTTTCCTCATTCCCAACGGGGCCTTCGCGCACAGCGGCCCTGTCATC
CCCGTCTACACCAGCAACAGCGGCACCTCCGTGGGCCCCAACGCAGTGTCACCTTCCAGCGGCCCCTCGCTTACGGCGGACTCCATGTGGAGGCCGTGGCGGAAC
TGA
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>HES1|3280|protein
MPADIMEKNSSSPVAATPASVNTTPDKPKTASEHRKSSKPIMEKRRRARINESLSQLKTLILDALKKDSSRHSKLEKADILEMTVKHLRNLQRAQMTAALSTDPS
VLGKYRAGFSECMNEVTRFLSTCEGVNTEVRTRLLGHLANCMTQINAMTYPGQPHPALQAPPPPPPGPGGPQHAPFAPPPPLVPIPGGAAPPPGGAPCKLGSQAG
EAAKVFGGFQVVPAPDGQFAFLIPNGAFAHSGPVIPVYTSNSGTSVGPNAVSPSSGPSLTADSMWRPWRN
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MPADIMEKNSSSPVAATPASVNTTPDKPKTASEHRKSSKPIMEKRRRARINESLSQLKTLILDALKKDSSRHSKLEKADILEMTVKHLRNLQRAQMTAALSTDPS
VLGKYRAGFSECMNEVTRFLSTCEGVNTEVRTRLLGHLANCMTQINAMTYPGQPHPALQAPPPPPPGPGGPQHAPFAPPPPLVPIPGGAAPPPGGAPCKLGSQAG
EAAKVFGGFQVVPAPDGQFAFLIPNGAFAHSGPVIPVYTSNSGTSVGPNAVSPSSGPSLTADSMWRPWRN
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 4 (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 | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Farach LS, 2016 | - | - | - | - | autistic | - | - | - | - | 1 | - | 1 |
Linkage Studies Top