Evidence Details for TMEM132D
Basic Information Top
| Gene Symbol: | TMEM132D ( KIAA1944,MGC138770,MGC138771,MOLT ) |
|---|---|
| Gene Full Name: | transmembrane protein 132D |
| Band: | 12q24.33 |
| Quick Links | Entrez ID:121256; OMIM: 611257; Uniprot ID:T132D_HUMAN; ENSEMBL ID: ENSG00000151952; HGNC ID: 29411 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMEM132D|121256|nucleotide
ATGTGCCCGTCTGAGATGGGGACGCTGTGGCACCACTGGTCGCCGGTACTCATCAGCCTGGCCGCCCTGTTTTCCAAAGTGACGGAAGGTCGAGGGATCCTTGAG
AGCATCCAGAGGTTTTCCTTGCTGCCCACCTACCTCCCCGTGACCTACCACATCAACAACGCGGACGTCTCCTTCTTCCTGAAGGAGGCCAACCAGGATATCATG
AGGAACTCCAGCCTGCAGTCCCGGGTGGAGTCATTTCTGATTTACAAATCCAGGAGGCTGCCTGTCCTCAATGCCAGCTACGGGCCTTTCTCCATCGAGCAAGTG
GTGCCCCAGGATTTAATGCTACCTTCCAACCCATTTGGATTCACCAACAAATTTTCTCTTAACTGGAAACTAAAAGCCCACATCCTGCGGGACAAAGTCTACCTG
AGCCGGCCCAAAGTGCAGGTTCTGTTCCACATCATGGGCAGAGACTGGGACGACCGCAGCGCCGGGGAGAAGCTGCCGTGCCTGAGGGTCTTTGCTTTCCGAGAG
ACCCGAGAGGTGCGGGGCAGCTGCCGGCTGCAGGGGGACCTGGGGCTGTGCGTGGCCGAGCTGGAGCTCCTGTCCAGCTGGTTCAGCCCCCCCACGGTGGTTGCC
GGGAGGAGGAAGTCCGTGGACCAGCCGGAGGGGACCCCCGTGGAGCTCTACTACACCGTGCACCCAGGGGGTGAGAGAGGGGACTGCGTCAGGGAAGACGCGAGG
AGAAGCAATGGGATCCGGACAGGCCACAGTGACATCGATGAGTCCGGGCCCCCCTTGCAGAGGATCGGGAGCATCTTCCTTTATCAGACACACAGGAAACCCTCC
CTGAGAGAACTGCGTCTGGACAACAGCGTGGCCATCCACTATATACCAAAGACCGTGAGGAAAGGAGACGTGCTGACTTTTCCTGTTTCCATCTCCAGAAATTCC
ACTGAAGATCGCTTCACGTTGAGGGCAAAGGTGAAGAAAGGCGTGAACATCATCGGCGTGCGAGCCAGCAGCCCTTCCATTTGGGATGTCAAGGAGCGCACGGAT
TATACTGGAAAGTATGCACCAGCTGTCATCGTTTGTCAGAAGAAAGCAGCTGGCTCAGAAAACAGTGCGGATGGCGCCTCCTACGAGGTCATGCAGATCGATGTG
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ATGTGCCCGTCTGAGATGGGGACGCTGTGGCACCACTGGTCGCCGGTACTCATCAGCCTGGCCGCCCTGTTTTCCAAAGTGACGGAAGGTCGAGGGATCCTTGAG
AGCATCCAGAGGTTTTCCTTGCTGCCCACCTACCTCCCCGTGACCTACCACATCAACAACGCGGACGTCTCCTTCTTCCTGAAGGAGGCCAACCAGGATATCATG
AGGAACTCCAGCCTGCAGTCCCGGGTGGAGTCATTTCTGATTTACAAATCCAGGAGGCTGCCTGTCCTCAATGCCAGCTACGGGCCTTTCTCCATCGAGCAAGTG
GTGCCCCAGGATTTAATGCTACCTTCCAACCCATTTGGATTCACCAACAAATTTTCTCTTAACTGGAAACTAAAAGCCCACATCCTGCGGGACAAAGTCTACCTG
AGCCGGCCCAAAGTGCAGGTTCTGTTCCACATCATGGGCAGAGACTGGGACGACCGCAGCGCCGGGGAGAAGCTGCCGTGCCTGAGGGTCTTTGCTTTCCGAGAG
ACCCGAGAGGTGCGGGGCAGCTGCCGGCTGCAGGGGGACCTGGGGCTGTGCGTGGCCGAGCTGGAGCTCCTGTCCAGCTGGTTCAGCCCCCCCACGGTGGTTGCC
GGGAGGAGGAAGTCCGTGGACCAGCCGGAGGGGACCCCCGTGGAGCTCTACTACACCGTGCACCCAGGGGGTGAGAGAGGGGACTGCGTCAGGGAAGACGCGAGG
AGAAGCAATGGGATCCGGACAGGCCACAGTGACATCGATGAGTCCGGGCCCCCCTTGCAGAGGATCGGGAGCATCTTCCTTTATCAGACACACAGGAAACCCTCC
CTGAGAGAACTGCGTCTGGACAACAGCGTGGCCATCCACTATATACCAAAGACCGTGAGGAAAGGAGACGTGCTGACTTTTCCTGTTTCCATCTCCAGAAATTCC
ACTGAAGATCGCTTCACGTTGAGGGCAAAGGTGAAGAAAGGCGTGAACATCATCGGCGTGCGAGCCAGCAGCCCTTCCATTTGGGATGTCAAGGAGCGCACGGAT
TATACTGGAAAGTATGCACCAGCTGTCATCGTTTGTCAGAAGAAAGCAGCTGGCTCAGAAAACAGTGCGGATGGCGCCTCCTACGAGGTCATGCAGATCGATGTG
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>TMEM132D|121256|protein
MCPSEMGTLWHHWSPVLISLAALFSKVTEGRGILESIQRFSLLPTYLPVTYHINNADVSFFLKEANQDIMRNSSLQSRVESFLIYKSRRLPVLNASYGPFSIEQV
VPQDLMLPSNPFGFTNKFSLNWKLKAHILRDKVYLSRPKVQVLFHIMGRDWDDRSAGEKLPCLRVFAFRETREVRGSCRLQGDLGLCVAELELLSSWFSPPTVVA
GRRKSVDQPEGTPVELYYTVHPGGERGDCVREDARRSNGIRTGHSDIDESGPPLQRIGSIFLYQTHRKPSLRELRLDNSVAIHYIPKTVRKGDVLTFPVSISRNS
TEDRFTLRAKVKKGVNIIGVRASSPSIWDVKERTDYTGKYAPAVIVCQKKAAGSENSADGASYEVMQIDVEVEEPGDLPATQLVTWQVEYPGEITSDLGVSKIYV
SPKDLIGVVPLAMEAEILNTAILTGKTVAVPVKVVSVEDDGTVTELLESVECRSSDEDVIKVSDRCDYVFVNGKEMKGKVNVVVNFTYQHLSSPLEMTVWVPRLP
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MCPSEMGTLWHHWSPVLISLAALFSKVTEGRGILESIQRFSLLPTYLPVTYHINNADVSFFLKEANQDIMRNSSLQSRVESFLIYKSRRLPVLNASYGPFSIEQV
VPQDLMLPSNPFGFTNKFSLNWKLKAHILRDKVYLSRPKVQVLFHIMGRDWDDRSAGEKLPCLRVFAFRETREVRGSCRLQGDLGLCVAELELLSSWFSPPTVVA
GRRKSVDQPEGTPVELYYTVHPGGERGDCVREDARRSNGIRTGHSDIDESGPPLQRIGSIFLYQTHRKPSLRELRLDNSVAIHYIPKTVRKGDVLTFPVSISRNS
TEDRFTLRAKVKKGVNIIGVRASSPSIWDVKERTDYTGKYAPAVIVCQKKAAGSENSADGASYEVMQIDVEVEEPGDLPATQLVTWQVEYPGEITSDLGVSKIYV
SPKDLIGVVPLAMEAEILNTAILTGKTVAVPVKVVSVEDDGTVTELLESVECRSSDEDVIKVSDRCDYVFVNGKEMKGKVNVVVNFTYQHLSSPLEMTVWVPRLP
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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) | 1 (7) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (10) |
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 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top