Evidence Details for ETHE1
Basic Information Top
| Gene Symbol: | ETHE1 ( HSCO,YF13H12 ) |
|---|---|
| Gene Full Name: | ethylmalonic encephalopathy 1 |
| Band: | 19q13.31 |
| Quick Links | Entrez ID:23474; OMIM: 608451; Uniprot ID:ETHE1_HUMAN; ENSEMBL ID: ENSG00000105755; HGNC ID: 23287 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ETHE1|23474|nucleotide
ATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACC
TTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTG
CGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTT
AGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTC
ACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTAC
CACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACT
CTGAACCCTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATG
CGCTGTGGGGTGCAGACACCCACTGCCTGA
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ATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACC
TTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTG
CGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTT
AGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTC
ACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTAC
CACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACT
CTGAACCCTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATG
CGCTGTGGGGTGCAGACACCCACTGCCTGA
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>ETHE1|23474|protein
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRL
SGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERT
LNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
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MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRL
SGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERT
LNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | (0) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top