Evidence Details for HIBADH
Basic Information Top
| Gene Symbol: | HIBADH ( MGC40361,NS5ATP1 ) |
|---|---|
| Gene Full Name: | 3-hydroxyisobutyrate dehydrogenase |
| Band: | 7p15.2 |
| Quick Links | Entrez ID:11112; OMIM: 608475; Uniprot ID:3HIDH_HUMAN; ENSEMBL ID: ENSG00000106049; HGNC ID: 4907 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>HIBADH|11112|nucleotide
ATGGCAGCCTCCTTACGGCTCCTCGGAGCTGCCTCCGGTCTCCGGTACTGGAGCCGGCGGCTGCGGCCGGCAGCCGGCAGCTTTGCAGCGGTGTGTTCTAGGTCA
GTGGCTTCAAAGACTCCAGTTGGATTCATTGGACTGGGCAACATGGGGAATCCAATGGCAAAAAATCTCATGAAACATGGCTATCCACTTATTATTTATGATGTG
TTCCCTGATGCCTGCAAAGAGTTTCAAGATGCAGGTGAACAGGTAGTATCTTCCCCAGCAGATGTTGCTGAAAAAGCTGACAGAATTATTACAATGCTGCCCACC
AGTATCAATGCAATAGAAGCTTATTCCGGAGCAAATGGGATTCTAAAAAAAGTGAAGAAGGGCTCATTATTAATAGATTCCAGCACTATTGATCCTGCAGTTTCA
AAAGAATTGGCCAAAGAAGTTGAGAAAATGGGAGCAGTTTTCATGGATGCCCCTGTTTCTGGTGGTGTAGGAGCTGCACGATCTGGGAACCTCACGTTTATGGTG
GGAGGAGTTGAAGATGAATTTGCTGCTGCCCAAGAGTTGCTGGGGTGCATGGGCTCCAACGTGGTGTACTGTGGAGCTGTTGGGACTGGGCAGGCGGCAAAGATC
TGCAACAACATGCTGTTAGCTATTAGTATGATTGGAACTGCTGAAGCTATGAATCTTGGAATCAGGTTAGGGCTTGACCCAAAACTACTGGCTAAAATCCTAAAT
ATGAGCTCAGGACGGTGTTGGTCAAGTGACACTTATAATCCTGTACCTGGAGTGATGGATGGCGTTCCCTCGGCTAATAACTATCAGGGTGGATTTGGAACAACA
CTCATGGCTAAGGATCTGGGATTGGCACAAGACTCTGCTACCAGCACAAAGAGCCCAATCCTTCTTGGCAGTCTGGCCCATCAGATCTACAGGATGATGTGTGCA
AAGGGCTACTCAAAGAAAGACTTCTCATCCGTGTTCCAGTTCCTACGAGAGGAGGAGACCTTCTGA
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ATGGCAGCCTCCTTACGGCTCCTCGGAGCTGCCTCCGGTCTCCGGTACTGGAGCCGGCGGCTGCGGCCGGCAGCCGGCAGCTTTGCAGCGGTGTGTTCTAGGTCA
GTGGCTTCAAAGACTCCAGTTGGATTCATTGGACTGGGCAACATGGGGAATCCAATGGCAAAAAATCTCATGAAACATGGCTATCCACTTATTATTTATGATGTG
TTCCCTGATGCCTGCAAAGAGTTTCAAGATGCAGGTGAACAGGTAGTATCTTCCCCAGCAGATGTTGCTGAAAAAGCTGACAGAATTATTACAATGCTGCCCACC
AGTATCAATGCAATAGAAGCTTATTCCGGAGCAAATGGGATTCTAAAAAAAGTGAAGAAGGGCTCATTATTAATAGATTCCAGCACTATTGATCCTGCAGTTTCA
AAAGAATTGGCCAAAGAAGTTGAGAAAATGGGAGCAGTTTTCATGGATGCCCCTGTTTCTGGTGGTGTAGGAGCTGCACGATCTGGGAACCTCACGTTTATGGTG
GGAGGAGTTGAAGATGAATTTGCTGCTGCCCAAGAGTTGCTGGGGTGCATGGGCTCCAACGTGGTGTACTGTGGAGCTGTTGGGACTGGGCAGGCGGCAAAGATC
TGCAACAACATGCTGTTAGCTATTAGTATGATTGGAACTGCTGAAGCTATGAATCTTGGAATCAGGTTAGGGCTTGACCCAAAACTACTGGCTAAAATCCTAAAT
ATGAGCTCAGGACGGTGTTGGTCAAGTGACACTTATAATCCTGTACCTGGAGTGATGGATGGCGTTCCCTCGGCTAATAACTATCAGGGTGGATTTGGAACAACA
CTCATGGCTAAGGATCTGGGATTGGCACAAGACTCTGCTACCAGCACAAAGAGCCCAATCCTTCTTGGCAGTCTGGCCCATCAGATCTACAGGATGATGTGTGCA
AAGGGCTACTCAAAGAAAGACTTCTCATCCGTGTTCCAGTTCCTACGAGAGGAGGAGACCTTCTGA
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>HIBADH|11112|protein
MAASLRLLGAASGLRYWSRRLRPAAGSFAAVCSRSVASKTPVGFIGLGNMGNPMAKNLMKHGYPLIIYDVFPDACKEFQDAGEQVVSSPADVAEKADRIITMLPT
SINAIEAYSGANGILKKVKKGSLLIDSSTIDPAVSKELAKEVEKMGAVFMDAPVSGGVGAARSGNLTFMVGGVEDEFAAAQELLGCMGSNVVYCGAVGTGQAAKI
CNNMLLAISMIGTAEAMNLGIRLGLDPKLLAKILNMSSGRCWSSDTYNPVPGVMDGVPSANNYQGGFGTTLMAKDLGLAQDSATSTKSPILLGSLAHQIYRMMCA
KGYSKKDFSSVFQFLREEETF
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MAASLRLLGAASGLRYWSRRLRPAAGSFAAVCSRSVASKTPVGFIGLGNMGNPMAKNLMKHGYPLIIYDVFPDACKEFQDAGEQVVSSPADVAEKADRIITMLPT
SINAIEAYSGANGILKKVKKGSLLIDSSTIDPAVSKELAKEVEKMGAVFMDAPVSGGVGAARSGNLTFMVGGVEDEFAAAQELLGCMGSNVVYCGAVGTGQAAKI
CNNMLLAISMIGTAEAMNLGIRLGLDPKLLAKILNMSSGRCWSSDTYNPVPGVMDGVPSANNYQGGFGTTLMAKDLGLAQDSATSTKSPILLGSLAHQIYRMMCA
KGYSKKDFSSVFQFLREEETF
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top