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 | ||||||
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Prasad, 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 Top