Evidence Details for TBC1D22A
Basic Information Top
| Gene Symbol: | TBC1D22A ( C22orf4,HSC79E021 ) |
|---|---|
| Gene Full Name: | TBC1 domain family, member 22A |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:25771; OMIM: NA; Uniprot ID:TB22A_HUMAN; ENSEMBL ID: ENSG00000054611; HGNC ID: 1309 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TBC1D22A|25771|nucleotide
ATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCA
CTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGAT
GCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCAC
AGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACG
CTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACG
GACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGG
AGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATC
CACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCC
AGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGC
GTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATT
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ATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCA
CTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGAT
GCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCAC
AGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTG
GTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACG
CTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACG
GACCTTGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGG
AGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATC
CACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCC
AGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGC
GTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATT
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>TBC1D22A|25771|protein
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNH
SQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNT
DLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPA
SGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFR
WMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK
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MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNH
SQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTSDPSTLSSSALSEREASRLDKFKQLLAGPNT
DLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPA
SGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFR
WMNNLLMREVPLRCTIRLWDTYQSEPDGFSHFHLYVCAAFLVRWRKEILEEKDFQELLLFLQNLPTAHWDDEDISLLLAEAYRLKFAFADAPNHYKK
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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 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (9) |
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 | ||||||
| Prasad, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Sebat, 2007 | USA | aCGH | | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.