Evidence Details for TMEM132B
Basic Information Top
| Gene Symbol: | TMEM132B ( KIAA1786,KIAA1906 ) |
|---|---|
| Gene Full Name: | transmembrane protein 132B |
| Band: | 12q24.31 |
| Quick Links | Entrez ID:114795; OMIM: NA; Uniprot ID:T132B_HUMAN; ENSEMBL ID: ENSG00000139364; HGNC ID: 29397 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMEM132B|114795|nucleotide
ATGTTTGGTGCAGCATCCAGAATGGACACCACTGCTGTCTGCACCGGGGGAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGCAGAAGTTTTCCTCGCTCCCT
GCTTACCTCCCCACGAACTTGCACATCTCCAATGCAGAGGAGTCCTTTTTCCTTAAAGAAGCCAACCAAGACCTCACAAGGAACTCCAGTCTGCAGGCCCGGGTG
GAGCCATTCTTCATCTACCGAGCCAGGACACCCCCTATTATCAATGCCAGCTATGGCCCATTTTCAGTGGAGAAGATAATCCCCCAGGAGCTCCTGTTGACATCT
ACAGCCTTTGGAAACATGGACAAATTTCCCTTCAACTGGAAATTGAAATCCCACATCCTTGACAGCTCCATCTACTCCAACAGACCCAAAGTGCAGACCTTGTTT
TATGTCACTGGCATGGGCTGGGATGACAGTGACCTTACGGAAGATCTACCCTGTGTCAAGATGTTTGCTTTCCCTGAGGCCAGGGAAGTGGCAGCCAGCTGTCGG
CTGCAAGGGGCCCCAGGGCTGTGTGTGGCTGAGCTGGAGCTGCTGCCCGAGTGGTTCAGCTCAGGCCTGGACCTGGAACCAGAGGAGGAGATCCCAGCCCTGCTC
GGGGGCACCACGATGGAGCTCTTCTTCACGCTCTACCCAGCTGACAAGGCTGGCCAGTGTCCTCTGGAGGAGGAAGGCAAGTGGGAGAACAATATCCACTCGGGC
CTGGAGAGCCCCCAGCAAGCGTTTCCAGCCCGAGAGAGGATTGGGAGTGTGGTGGTCTACCCAACCCAAGATGATCTGAAGTGGTCCCTGGTGAGCTTGGACGAG
AATGTGGTCATCTCGGTACCTCTGAATCTAGTCCGGGAAGGGGACACGGCCACCTTTTTGGTCTCTCTGACCAGTAGCTCTGTGGCAGACCAGTTCACTCTTAGA
ATTAAGGCGGCAGCAGGTGTGAAGATAACGGCAGTGAGAGTCAGCAGTGAGGACCAATGGGCAGTCCAGGAGGAAATTGATAATGGCAGCACTCAGACGTCGGCC
ACCCTCACCTGCATGGGCCATCGCCCGGACACGCAGAGCAGGGTAAATGGATCCTTCTATGAGATCTTGCAAGTGGACTTTGGAATTGATAATAGCAGTGACCTG
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ATGTTTGGTGCAGCATCCAGAATGGACACCACTGCTGTCTGCACCGGGGGAGTGACAGAGAGTCGAGGGATTGTGGATAGCCTGCAGAAGTTTTCCTCGCTCCCT
GCTTACCTCCCCACGAACTTGCACATCTCCAATGCAGAGGAGTCCTTTTTCCTTAAAGAAGCCAACCAAGACCTCACAAGGAACTCCAGTCTGCAGGCCCGGGTG
GAGCCATTCTTCATCTACCGAGCCAGGACACCCCCTATTATCAATGCCAGCTATGGCCCATTTTCAGTGGAGAAGATAATCCCCCAGGAGCTCCTGTTGACATCT
ACAGCCTTTGGAAACATGGACAAATTTCCCTTCAACTGGAAATTGAAATCCCACATCCTTGACAGCTCCATCTACTCCAACAGACCCAAAGTGCAGACCTTGTTT
TATGTCACTGGCATGGGCTGGGATGACAGTGACCTTACGGAAGATCTACCCTGTGTCAAGATGTTTGCTTTCCCTGAGGCCAGGGAAGTGGCAGCCAGCTGTCGG
CTGCAAGGGGCCCCAGGGCTGTGTGTGGCTGAGCTGGAGCTGCTGCCCGAGTGGTTCAGCTCAGGCCTGGACCTGGAACCAGAGGAGGAGATCCCAGCCCTGCTC
GGGGGCACCACGATGGAGCTCTTCTTCACGCTCTACCCAGCTGACAAGGCTGGCCAGTGTCCTCTGGAGGAGGAAGGCAAGTGGGAGAACAATATCCACTCGGGC
CTGGAGAGCCCCCAGCAAGCGTTTCCAGCCCGAGAGAGGATTGGGAGTGTGGTGGTCTACCCAACCCAAGATGATCTGAAGTGGTCCCTGGTGAGCTTGGACGAG
AATGTGGTCATCTCGGTACCTCTGAATCTAGTCCGGGAAGGGGACACGGCCACCTTTTTGGTCTCTCTGACCAGTAGCTCTGTGGCAGACCAGTTCACTCTTAGA
ATTAAGGCGGCAGCAGGTGTGAAGATAACGGCAGTGAGAGTCAGCAGTGAGGACCAATGGGCAGTCCAGGAGGAAATTGATAATGGCAGCACTCAGACGTCGGCC
ACCCTCACCTGCATGGGCCATCGCCCGGACACGCAGAGCAGGGTAAATGGATCCTTCTATGAGATCTTGCAAGTGGACTTTGGAATTGATAATAGCAGTGACCTG
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>TMEM132B|114795|protein
MFGAASRMDTTAVCTGGVTESRGIVDSLQKFSSLPAYLPTNLHISNAEESFFLKEANQDLTRNSSLQARVEPFFIYRARTPPIINASYGPFSVEKIIPQELLLTS
TAFGNMDKFPFNWKLKSHILDSSIYSNRPKVQTLFYVTGMGWDDSDLTEDLPCVKMFAFPEAREVAASCRLQGAPGLCVAELELLPEWFSSGLDLEPEEEIPALL
GGTTMELFFTLYPADKAGQCPLEEEGKWENNIHSGLESPQQAFPARERIGSVVVYPTQDDLKWSLVSLDENVVISVPLNLVREGDTATFLVSLTSSSVADQFTLR
IKAAAGVKITAVRVSSEDQWAVQEEIDNGSTQTSATLTCMGHRPDTQSRVNGSFYEILQVDFGIDNSSDLAGAQQITWQVEYPIEDSMSELVVSEIFVSQTTFVG
IVPLAMDTEVLNTAILTGKPVSVPVKVVGVQEDGSVVDVSESVECKSADEDVIKVSNNCDSIFVNGKEMKSKVDTIVNFTHQHFTSQFEVTVWAPRLPLQIEISD
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MFGAASRMDTTAVCTGGVTESRGIVDSLQKFSSLPAYLPTNLHISNAEESFFLKEANQDLTRNSSLQARVEPFFIYRARTPPIINASYGPFSVEKIIPQELLLTS
TAFGNMDKFPFNWKLKSHILDSSIYSNRPKVQTLFYVTGMGWDDSDLTEDLPCVKMFAFPEAREVAASCRLQGAPGLCVAELELLPEWFSSGLDLEPEEEIPALL
GGTTMELFFTLYPADKAGQCPLEEEGKWENNIHSGLESPQQAFPARERIGSVVVYPTQDDLKWSLVSLDENVVISVPLNLVREGDTATFLVSLTSSSVADQFTLR
IKAAAGVKITAVRVSSEDQWAVQEEIDNGSTQTSATLTCMGHRPDTQSRVNGSFYEILQVDFGIDNSSDLAGAQQITWQVEYPIEDSMSELVVSEIFVSQTTFVG
IVPLAMDTEVLNTAILTGKPVSVPVKVVGVQEDGSVVDVSESVECKSADEDVIKVSNNCDSIFVNGKEMKSKVDTIVNFTHQHFTSQFEVTVWAPRLPLQIEISD
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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 | 1 (4) | 0 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 6 (12) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 4
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | AS | - (3-21) |
- >70 | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_1 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 1301 | - (-) | | | 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 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top