Evidence Details for HLTF


Gene Symbol: | HLTF ( HIP116,HIP116A,HLTF1,RNF80,SMARCA3,SNF2L3,ZBU1 ) |
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Gene Full Name: | helicase-like transcription factor |
Band: | 3q24 |
Quick Links | Entrez ID:6596; OMIM: 603257; Uniprot ID:HLTF_HUMAN; ENSEMBL ID: ENSG00000071794; HGNC ID: 11099 |
Relate to Another Database: | SFARIGene; denovo-db |


>HLTF|6596|nucleotide
ATGTCCTGGATGTTCAAGAGGGATCCAGTTTGGAAGTACTTGCAGACTGTCCAGTATGGAGTTCATGGAAATTTTCCACGCCTCTCATATCCAACTTTCTTTCCA
CGTTTTGAATTCCAAGATGTTATCCCTCCAGATGACTTTCTAACTAGTGATGAAGAAGTAGATTCCGTTTTATTTGGAAGTTTGAGAGGTCATGTGGTTGGACTA
CGCTATTACACGGGAGTAGTTAATAATAATGAAATGGTTGCATTACAACGAGATCCTAATAACCCTTATGATAAGAATGCAATTAAAGTAAACAATGTGAATGGA
AATCAAGTTGGCCATTTAAAGAAAGAGCTTGCAGGTGCTTTGGCCTATATCATGGACAACAAATTGGCACAAATTGAAGGGGTAGTTCCTTTTGGTGCAAACAAT
GCTTTTACCATGCCTCTGCATATGACTTTTTGGGGAAAAGAAGAAAATAGAAAAGCGGTTTCAGATCAGTTGAAGAAACATGGATTTAAATTGGGTCCTGCACCA
AAAACTTTAGGATTCAATTTGGAAAGTGGTTGGGGCTCTGGAAGAGCTGGACCAAGCTATAGTATGCCAGTGCATGCTGCAGTACAGATGACAACTGAACAGCTT
AAAACAGAATTTGACAAATTGTTTGAAGATTTAAAAGAAGATGATAAAACCCATGAAATGGAACCAGCTGAGGCTATTGAAACACCACTGCTTCCACATCAAAAA
CAAGCTCTAGCTTGGATGGTGTCACGGGAAAATAGCAAAGAACTTCCACCATTCTGGGAACAGCGAAATGACTTATACTATAACACAATAACAAATTTTTCTGAG
AAGGACCGACCAGAAAATGTCCATGGAGGAATTTTAGCTGATGATATGGGTTTGGGTAAAACTCTTACGGCCATTGCAGTAATCCTTACCAACTTCCATGATGGC
AGACCTCTTCCTATTGAAAGAGTTAAAAAGAATCTACTGAAGAAGGAATATAATGTTAACGATGACTCTATGAAACTTGGAGGAAACAATACCAGTGAAAAGGCA
GATGGACTAAGCAAAGACGCATCTAGATGTAGTGAACAACCCAGTATTTCAGATATCAAGGAGAAGAGTAAGTTTCGCATGTCAGAATTGTCTAGCTCCCGCCCC
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ATGTCCTGGATGTTCAAGAGGGATCCAGTTTGGAAGTACTTGCAGACTGTCCAGTATGGAGTTCATGGAAATTTTCCACGCCTCTCATATCCAACTTTCTTTCCA
CGTTTTGAATTCCAAGATGTTATCCCTCCAGATGACTTTCTAACTAGTGATGAAGAAGTAGATTCCGTTTTATTTGGAAGTTTGAGAGGTCATGTGGTTGGACTA
CGCTATTACACGGGAGTAGTTAATAATAATGAAATGGTTGCATTACAACGAGATCCTAATAACCCTTATGATAAGAATGCAATTAAAGTAAACAATGTGAATGGA
AATCAAGTTGGCCATTTAAAGAAAGAGCTTGCAGGTGCTTTGGCCTATATCATGGACAACAAATTGGCACAAATTGAAGGGGTAGTTCCTTTTGGTGCAAACAAT
GCTTTTACCATGCCTCTGCATATGACTTTTTGGGGAAAAGAAGAAAATAGAAAAGCGGTTTCAGATCAGTTGAAGAAACATGGATTTAAATTGGGTCCTGCACCA
AAAACTTTAGGATTCAATTTGGAAAGTGGTTGGGGCTCTGGAAGAGCTGGACCAAGCTATAGTATGCCAGTGCATGCTGCAGTACAGATGACAACTGAACAGCTT
AAAACAGAATTTGACAAATTGTTTGAAGATTTAAAAGAAGATGATAAAACCCATGAAATGGAACCAGCTGAGGCTATTGAAACACCACTGCTTCCACATCAAAAA
CAAGCTCTAGCTTGGATGGTGTCACGGGAAAATAGCAAAGAACTTCCACCATTCTGGGAACAGCGAAATGACTTATACTATAACACAATAACAAATTTTTCTGAG
AAGGACCGACCAGAAAATGTCCATGGAGGAATTTTAGCTGATGATATGGGTTTGGGTAAAACTCTTACGGCCATTGCAGTAATCCTTACCAACTTCCATGATGGC
AGACCTCTTCCTATTGAAAGAGTTAAAAAGAATCTACTGAAGAAGGAATATAATGTTAACGATGACTCTATGAAACTTGGAGGAAACAATACCAGTGAAAAGGCA
GATGGACTAAGCAAAGACGCATCTAGATGTAGTGAACAACCCAGTATTTCAGATATCAAGGAGAAGAGTAAGTTTCGCATGTCAGAATTGTCTAGCTCCCGCCCC
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>HLTF|6596|protein
MSWMFKRDPVWKYLQTVQYGVHGNFPRLSYPTFFPRFEFQDVIPPDDFLTSDEEVDSVLFGSLRGHVVGLRYYTGVVNNNEMVALQRDPNNPYDKNAIKVNNVNG
NQVGHLKKELAGALAYIMDNKLAQIEGVVPFGANNAFTMPLHMTFWGKEENRKAVSDQLKKHGFKLGPAPKTLGFNLESGWGSGRAGPSYSMPVHAAVQMTTEQL
KTEFDKLFEDLKEDDKTHEMEPAEAIETPLLPHQKQALAWMVSRENSKELPPFWEQRNDLYYNTITNFSEKDRPENVHGGILADDMGLGKTLTAIAVILTNFHDG
RPLPIERVKKNLLKKEYNVNDDSMKLGGNNTSEKADGLSKDASRCSEQPSISDIKEKSKFRMSELSSSRPKRRKTAVQYIESSDSEEIETSELPQKMKGKLKNVQ
SETKGRAKAGSSKVIEDVAFACALTSSVPTTKKKMLKKGACAVEGSKKTDVEERPRTTLIICPLSVLSNWIDQFGQHIKSDVHLNFYVYYGPDRIREPALLSKQD
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MSWMFKRDPVWKYLQTVQYGVHGNFPRLSYPTFFPRFEFQDVIPPDDFLTSDEEVDSVLFGSLRGHVVGLRYYTGVVNNNEMVALQRDPNNPYDKNAIKVNNVNG
NQVGHLKKELAGALAYIMDNKLAQIEGVVPFGANNAFTMPLHMTFWGKEENRKAVSDQLKKHGFKLGPAPKTLGFNLESGWGSGRAGPSYSMPVHAAVQMTTEQL
KTEFDKLFEDLKEDDKTHEMEPAEAIETPLLPHQKQALAWMVSRENSKELPPFWEQRNDLYYNTITNFSEKDRPENVHGGILADDMGLGKTLTAIAVILTNFHDG
RPLPIERVKKNLLKKEYNVNDDSMKLGGNNTSEKADGLSKDASRCSEQPSISDIKEKSKFRMSELSSSRPKRRKTAVQYIESSDSEEIETSELPQKMKGKLKNVQ
SETKGRAKAGSSKVIEDVAFACALTSSVPTTKKKMLKKGACAVEGSKKTDVEERPRTTLIICPLSVLSNWIDQFGQHIKSDVHLNFYVYYGPDRIREPALLSKQD
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Click 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) |














Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |






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