Evidence Details for TMEM132C
Basic Information Top
| Gene Symbol: | TMEM132C ( DKFZp761O2018 ) |
|---|---|
| Gene Full Name: | transmembrane protein 132C |
| Band: | 12q24.32 |
| Quick Links | Entrez ID:92293; OMIM: NA; Uniprot ID:T132C_HUMAN; ENSEMBL ID: ENSG00000181234; HGNC ID: 25436 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMEM132C|92293|nucleotide
ATGCGCTCCGAGGGTGCGGCCCCCGGGCCGGCGGCGCCGCTGTGCGGGGCGCTGAGCCTGCTGCTGGGCGCGCTGCTGGGCAAAGTGATAGAGGGTCACGGGGTC
ACAGACAACATACAGAGATTCTCCTCACTGCCACCTTACCTACCTGTGAGCTACCACATCCTCAGAGCAGAGACCTCCTTCTTCCTCAAGGAAGCCAACCAGGAC
CTGCTGCGGAACTCCAGCCTGCAGGCGAGGGTGGAGTCCTTCTTTACCTACAAAACCAGGCAGCCCCCAGTGCTCAATGCCAGCTATGGACCCTTTTCTGTGGAG
AAGGTTGTGCCTCTGGACTTGATGTTGACTTCAAACTTTTTAGGTCCAACCAATAAGTTTAGTTTTGATTGGAAACTAAAAGCCCACATCCTGCGGGACAAAGTC
TACCTGAGCCGGCCCAAAGTGCAGGTTCTTTTCCACATCATGGGCAGAGACTGGGATGACCACGGCGCCGGGGAGAAGCTGCCATGCCTGAGGGTCTTTGCTTTC
CGAGAAACCAGAGAGGTGCGGGGCAGCTGCCGGCTGAAGGGGGACCTGGGGCTGTGTGTGGCTGAGCTGGAGCTCCTGTCCAGCTGGTTCAGTGCCCCGACGGTG
GGTGCCGGGAGGAAGAAGTCCATGGACCAGCCGGAGGGGACCCCTGTGGAGCTCTACTACACCGTGCACCCAGGAAACGAGCGAGGGGACTGTGCCGGGGGTGAC
TTCAGGAAGGGCAACGCCATCCGTCCAGGAAAGGATGGGCTGGAGGAAACCACGTCCCACCTGCAGAGGATCGGCACCGTCGGCCTTTACCGGGCCCAGGACAGC
GCCCAGCTCAGCGAGCTGCGTTTGGATGGTAACGTGGTCATCTGGCTGCCTTCCAGGCCAGTCAAGCAGGGAGAGGTGGTCACGGCCTATGTCACCATCTCGAGC
AATTCCTCTGTGGACCTCTTCATCTTGAGAGCCAAGGTGAAGAAGGGGGTGAACATCCTGAGTGCTCAGACCCGTGAGCCCCGGCAGTGGGGCGTCAAGCAGGAG
GTGGGCAGCGGCGGAAAGCACGTGACGGCCACCGTGGCCTGCCAGCGCCTGGGGCCCAGCCCACGCAACAGGAGCAGCAGTTTATTCAATGAGGTTGTGCAGATG
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ATGCGCTCCGAGGGTGCGGCCCCCGGGCCGGCGGCGCCGCTGTGCGGGGCGCTGAGCCTGCTGCTGGGCGCGCTGCTGGGCAAAGTGATAGAGGGTCACGGGGTC
ACAGACAACATACAGAGATTCTCCTCACTGCCACCTTACCTACCTGTGAGCTACCACATCCTCAGAGCAGAGACCTCCTTCTTCCTCAAGGAAGCCAACCAGGAC
CTGCTGCGGAACTCCAGCCTGCAGGCGAGGGTGGAGTCCTTCTTTACCTACAAAACCAGGCAGCCCCCAGTGCTCAATGCCAGCTATGGACCCTTTTCTGTGGAG
AAGGTTGTGCCTCTGGACTTGATGTTGACTTCAAACTTTTTAGGTCCAACCAATAAGTTTAGTTTTGATTGGAAACTAAAAGCCCACATCCTGCGGGACAAAGTC
TACCTGAGCCGGCCCAAAGTGCAGGTTCTTTTCCACATCATGGGCAGAGACTGGGATGACCACGGCGCCGGGGAGAAGCTGCCATGCCTGAGGGTCTTTGCTTTC
CGAGAAACCAGAGAGGTGCGGGGCAGCTGCCGGCTGAAGGGGGACCTGGGGCTGTGTGTGGCTGAGCTGGAGCTCCTGTCCAGCTGGTTCAGTGCCCCGACGGTG
GGTGCCGGGAGGAAGAAGTCCATGGACCAGCCGGAGGGGACCCCTGTGGAGCTCTACTACACCGTGCACCCAGGAAACGAGCGAGGGGACTGTGCCGGGGGTGAC
TTCAGGAAGGGCAACGCCATCCGTCCAGGAAAGGATGGGCTGGAGGAAACCACGTCCCACCTGCAGAGGATCGGCACCGTCGGCCTTTACCGGGCCCAGGACAGC
GCCCAGCTCAGCGAGCTGCGTTTGGATGGTAACGTGGTCATCTGGCTGCCTTCCAGGCCAGTCAAGCAGGGAGAGGTGGTCACGGCCTATGTCACCATCTCGAGC
AATTCCTCTGTGGACCTCTTCATCTTGAGAGCCAAGGTGAAGAAGGGGGTGAACATCCTGAGTGCTCAGACCCGTGAGCCCCGGCAGTGGGGCGTCAAGCAGGAG
GTGGGCAGCGGCGGAAAGCACGTGACGGCCACCGTGGCCTGCCAGCGCCTGGGGCCCAGCCCACGCAACAGGAGCAGCAGTTTATTCAATGAGGTTGTGCAGATG
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>TMEM132C|92293|protein
MRSEGAAPGPAAPLCGALSLLLGALLGKVIEGHGVTDNIQRFSSLPPYLPVSYHILRAETSFFLKEANQDLLRNSSLQARVESFFTYKTRQPPVLNASYGPFSVE
KVVPLDLMLTSNFLGPTNKFSFDWKLKAHILRDKVYLSRPKVQVLFHIMGRDWDDHGAGEKLPCLRVFAFRETREVRGSCRLKGDLGLCVAELELLSSWFSAPTV
GAGRKKSMDQPEGTPVELYYTVHPGNERGDCAGGDFRKGNAIRPGKDGLEETTSHLQRIGTVGLYRAQDSAQLSELRLDGNVVIWLPSRPVKQGEVVTAYVTISS
NSSVDLFILRAKVKKGVNILSAQTREPRQWGVKQEVGSGGKHVTATVACQRLGPSPRNRSSSLFNEVVQMNFEIASFSSLSGTQPITWQVEYPRKGTTDIAVSEI
FVSQKDLVGIVPLAMDTEILNTAVLTGKTVAMPIKVVSVEENSAVMDISESVECKSTDEDVIKVSERCDYIFVNGKEIKGKMDAVVNFTYQYLSAPLCVTVWVPR
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MRSEGAAPGPAAPLCGALSLLLGALLGKVIEGHGVTDNIQRFSSLPPYLPVSYHILRAETSFFLKEANQDLLRNSSLQARVESFFTYKTRQPPVLNASYGPFSVE
KVVPLDLMLTSNFLGPTNKFSFDWKLKAHILRDKVYLSRPKVQVLFHIMGRDWDDHGAGEKLPCLRVFAFRETREVRGSCRLKGDLGLCVAELELLSSWFSAPTV
GAGRKKSMDQPEGTPVELYYTVHPGNERGDCAGGDFRKGNAIRPGKDGLEETTSHLQRIGTVGLYRAQDSAQLSELRLDGNVVIWLPSRPVKQGEVVTAYVTISS
NSSVDLFILRAKVKKGVNILSAQTREPRQWGVKQEVGSGGKHVTATVACQRLGPSPRNRSSSLFNEVVQMNFEIASFSSLSGTQPITWQVEYPRKGTTDIAVSEI
FVSQKDLVGIVPLAMDTEILNTAVLTGKTVAMPIKVVSVEENSAVMDISESVECKSTDEDVIKVSERCDYIFVNGKEIKGKMDAVVNFTYQYLSAPLCVTVWVPR
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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 (1) | 0 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Auranen, 2002 | Finland | microsatellite-based genomic screen | | | autism | 19 | - | 19 | - | 54 | - | - |
Low 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 |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top 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.