Evidence Details for TRPM6
Basic Information Top
| Gene Symbol: | TRPM6 ( CHAK2,HMGX,HOMG,HOMG1,HSH ) |
|---|---|
| Gene Full Name: | transient receptor potential cation channel, subfamily M, member 6 |
| Band: | 9q21.13 |
| Quick Links | Entrez ID:140803; OMIM: 607009; Uniprot ID:TRPM6_HUMAN; ENSEMBL ID: ENSG00000119121; HGNC ID: 17995 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TRPM6|140803|nucleotide
ATGATTATCCTATCTAAGTCCCAGAAATCCTGGATTAAAGGAGTATTTGACAAGAGAGAATGTAGCACAATCATACCCAGCTCAAAAAATCCTCACAGATGTACT
CCAGTATGCCAAGTCTGCCAGAATTTAATCAGGTGTTACTGTGGCCGACTGATTGGAGACCATGCTGGGATAGATTATTCCTGGACCATCTCAGCTGCCAAGGGT
AAAGAAAGTGAACAATGGTCTGTTGAAAAGCACACAACGAAAAGCCCAACAGATACTTTTGGCACGATTAATTTCCAAGATGGAGAGCACACCCATCATGCCAAG
TATATTAGAACTTCTTATGATACAAAACTGGATCATCTGTTACATTTAATGTTGAAAGAGTGGAAAATGGAACTGCCCAAGCTTGTGATCTCAGTCCATGGGGGC
ATCCAGAACTTTACTATGCCCTCTAAATTTAAAGAGATTTTCAGCCAAGGTTTGGTTAAAGCTGCAGAGACAACAGGAGCGTGGATAATAACTGAAGGCATCAAT
ACAGGAGTGTCCAAGCATGTTGGGGATGCCTTGAAATCCCATTCCTCTCATTCCTTGAGAAAAATCTGGACAGTTGGAATCCCTCCTTGGGGTGTCATTGAGAAC
CAGAGAGACCTTATTGGAAAAGATGTGGTGTGCCTGTACCAGACTCTGGATAACCCCCTCAGCAAGCTCACAACACTCAACAGCATGCACTCGCACTTCATCCTG
TCTGATGATGGGACCGTGGGCAAGTATGGAAATGAAATGAAGCTCAGAAGGAACCTGGAGAAGTACCTCTCTCTGCAGAAAATACACTGCCGCTCAAGACAAGGC
GTGCCGGTCGTGGGGCTGGTGGTGGAAGGCGGTCCCAACGTCATCCTGTCAGTGTGGGAGACTGTCAAGGACAAGGACCCAGTGGTGGTGTGTGAGGGCACAGGT
AGGGCGGCTGACCTCCTGGCCTTCACACACAAACACCTGGCAGATGAAGGGATGCTGCGACCTCAGGTGAAAGAGGAGATCATCTGCATGATTCAGAACACTTTC
AACTTTAGTCTTAAACAGTCCAAGCACCTTTTCCAAATTCTAATGGAGTGTATGGTTCACAGGGATTGTATTACCATATTTGATGCTGACTCTGAAGAGCAGCAA
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ATGATTATCCTATCTAAGTCCCAGAAATCCTGGATTAAAGGAGTATTTGACAAGAGAGAATGTAGCACAATCATACCCAGCTCAAAAAATCCTCACAGATGTACT
CCAGTATGCCAAGTCTGCCAGAATTTAATCAGGTGTTACTGTGGCCGACTGATTGGAGACCATGCTGGGATAGATTATTCCTGGACCATCTCAGCTGCCAAGGGT
AAAGAAAGTGAACAATGGTCTGTTGAAAAGCACACAACGAAAAGCCCAACAGATACTTTTGGCACGATTAATTTCCAAGATGGAGAGCACACCCATCATGCCAAG
TATATTAGAACTTCTTATGATACAAAACTGGATCATCTGTTACATTTAATGTTGAAAGAGTGGAAAATGGAACTGCCCAAGCTTGTGATCTCAGTCCATGGGGGC
ATCCAGAACTTTACTATGCCCTCTAAATTTAAAGAGATTTTCAGCCAAGGTTTGGTTAAAGCTGCAGAGACAACAGGAGCGTGGATAATAACTGAAGGCATCAAT
ACAGGAGTGTCCAAGCATGTTGGGGATGCCTTGAAATCCCATTCCTCTCATTCCTTGAGAAAAATCTGGACAGTTGGAATCCCTCCTTGGGGTGTCATTGAGAAC
CAGAGAGACCTTATTGGAAAAGATGTGGTGTGCCTGTACCAGACTCTGGATAACCCCCTCAGCAAGCTCACAACACTCAACAGCATGCACTCGCACTTCATCCTG
TCTGATGATGGGACCGTGGGCAAGTATGGAAATGAAATGAAGCTCAGAAGGAACCTGGAGAAGTACCTCTCTCTGCAGAAAATACACTGCCGCTCAAGACAAGGC
GTGCCGGTCGTGGGGCTGGTGGTGGAAGGCGGTCCCAACGTCATCCTGTCAGTGTGGGAGACTGTCAAGGACAAGGACCCAGTGGTGGTGTGTGAGGGCACAGGT
AGGGCGGCTGACCTCCTGGCCTTCACACACAAACACCTGGCAGATGAAGGGATGCTGCGACCTCAGGTGAAAGAGGAGATCATCTGCATGATTCAGAACACTTTC
AACTTTAGTCTTAAACAGTCCAAGCACCTTTTCCAAATTCTAATGGAGTGTATGGTTCACAGGGATTGTATTACCATATTTGATGCTGACTCTGAAGAGCAGCAA
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>TRPM6|140803|protein
MIILSKSQKSWIKGVFDKRECSTIIPSSKNPHRCTPVCQVCQNLIRCYCGRLIGDHAGIDYSWTISAAKGKESEQWSVEKHTTKSPTDTFGTINFQDGEHTHHAK
YIRTSYDTKLDHLLHLMLKEWKMELPKLVISVHGGIQNFTMPSKFKEIFSQGLVKAAETTGAWIITEGINTGVSKHVGDALKSHSSHSLRKIWTVGIPPWGVIEN
QRDLIGKDVVCLYQTLDNPLSKLTTLNSMHSHFILSDDGTVGKYGNEMKLRRNLEKYLSLQKIHCRSRQGVPVVGLVVEGGPNVILSVWETVKDKDPVVVCEGTG
RAADLLAFTHKHLADEGMLRPQVKEEIICMIQNTFNFSLKQSKHLFQILMECMVHRDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDRVDIAK
KHILIYEQHWKPDALEQAMSDALVMDRVDFVKLLIEYGVNLHRFLTIPRLEELYNTKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAYRSNYT
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MIILSKSQKSWIKGVFDKRECSTIIPSSKNPHRCTPVCQVCQNLIRCYCGRLIGDHAGIDYSWTISAAKGKESEQWSVEKHTTKSPTDTFGTINFQDGEHTHHAK
YIRTSYDTKLDHLLHLMLKEWKMELPKLVISVHGGIQNFTMPSKFKEIFSQGLVKAAETTGAWIITEGINTGVSKHVGDALKSHSSHSLRKIWTVGIPPWGVIEN
QRDLIGKDVVCLYQTLDNPLSKLTTLNSMHSHFILSDDGTVGKYGNEMKLRRNLEKYLSLQKIHCRSRQGVPVVGLVVEGGPNVILSVWETVKDKDPVVVCEGTG
RAADLLAFTHKHLADEGMLRPQVKEEIICMIQNTFNFSLKQSKHLFQILMECMVHRDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDRVDIAK
KHILIYEQHWKPDALEQAMSDALVMDRVDFVKLLIEYGVNLHRFLTIPRLEELYNTKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAYRSNYT
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) | 0 (0) | 0 (1) | 0 (0) | 10 (5) |
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 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 |  | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
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.