Evidence Details for TBC1D22B
Basic Information Top
| Gene Symbol: | TBC1D22B ( C6orf197,DKFZp762J0110,FLJ20337,MGC125626,MGC125627,RP4-744I24.2,dJ744I24.2 ) |
|---|---|
| Gene Full Name: | TBC1 domain family, member 22B |
| Band: | 6p21.2 |
| Quick Links | Entrez ID:55633; OMIM: NA; Uniprot ID:TB22B_HUMAN; ENSEMBL ID: ENSG00000065491; HGNC ID: 21602 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TBC1D22B|55633|nucleotide
ATGGCCGCTGAGAACAGCAAGCAGTTTTGGAAGAGGAGCGCTAAGCTGCCGGGGAGCATTCAGCCTGTATATGGAGCACAGCATCCTCCTCTTGACCCACGGCTC
ACCAAAAATTTCATTAAAGAACGATCAAAAGTCAACACAGTTCCTCTGAAGAATAAGAAGGCCTCCAGTTTTCATGAGTTTGCACGGAATACCAGTGATGCTTGG
GACATTGGCGATGATGAGGAAGAGGACTTTTCCTCACCTTCTTTCCAAACTCTGAACTCAAAAGTTGCTTTGGCAACTGCAGCCCAAGTTCTAGAAAACCACAGC
AAGCTGAGAGTAAAACCAGAACGGTCCCAGTCAACGACATCGGACGTCCCTGCCAACTACAAGGTCATAAAGTCCAGCAGTGATGCCCAGCTGTCCAGAAACTCT
AGTGATACATGCCTGAGGAACCCACTCCACAAACAGCAATCACTCCCTCTCCGGCCCATCATCCCCCTCGTTGCCCGGATCTCGGATCAGAACGCTTCTGGGGCC
CCCCCAATGACTGTCCGGGAGAAAACCCGCCTAGAAAAATTCCGTCAGCTTCTCTCCAGCCAGAACACTGACTTAGATGAACTGAGGAAGTGTAGCTGGCCAGGG
GTTCCCAGGGAGGTTCGACCTATAACCTGGAGACTCCTGTCGGGCTATCTCCCAGCAAACACTGAGAGGAGGAAGTTGACCCTGCAGCGGAAGCGGGAGGAATAT
TTTGGCTTCATTGAACAGTATTATGACTCTCGAAACGAGGAACATCACCAGGATACCTACAGACAGATTCACATTGACATTCCAAGGACGAATCCTCTCATTCCG
TTGTTCCAGCAACCACTTGTACAGGAGATCTTTGAAAGAATTCTATTTATTTGGGCCATCCGCCACCCTGCCAGTGGGTATGTCCAGGGAATTAATGACCTGGTC
ACTCCATTCTTTGTCGTCTTCCTCTCAGAATATGTGGAAGAGGATGTGGAGAACTTTGACGTGACCAACTTGTCTCAAGACATGCTGCGAAGCATTGAGGCTGAC
AGCTTTTGGTGCATGAGCAAGCTGCTGGATGGAATCCAGGATAACTACACCTTTGCACAACCAGGAATCCAGAAGAAGGTGAAGGCACTGGAAGAGCTTGTCAGC
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ATGGCCGCTGAGAACAGCAAGCAGTTTTGGAAGAGGAGCGCTAAGCTGCCGGGGAGCATTCAGCCTGTATATGGAGCACAGCATCCTCCTCTTGACCCACGGCTC
ACCAAAAATTTCATTAAAGAACGATCAAAAGTCAACACAGTTCCTCTGAAGAATAAGAAGGCCTCCAGTTTTCATGAGTTTGCACGGAATACCAGTGATGCTTGG
GACATTGGCGATGATGAGGAAGAGGACTTTTCCTCACCTTCTTTCCAAACTCTGAACTCAAAAGTTGCTTTGGCAACTGCAGCCCAAGTTCTAGAAAACCACAGC
AAGCTGAGAGTAAAACCAGAACGGTCCCAGTCAACGACATCGGACGTCCCTGCCAACTACAAGGTCATAAAGTCCAGCAGTGATGCCCAGCTGTCCAGAAACTCT
AGTGATACATGCCTGAGGAACCCACTCCACAAACAGCAATCACTCCCTCTCCGGCCCATCATCCCCCTCGTTGCCCGGATCTCGGATCAGAACGCTTCTGGGGCC
CCCCCAATGACTGTCCGGGAGAAAACCCGCCTAGAAAAATTCCGTCAGCTTCTCTCCAGCCAGAACACTGACTTAGATGAACTGAGGAAGTGTAGCTGGCCAGGG
GTTCCCAGGGAGGTTCGACCTATAACCTGGAGACTCCTGTCGGGCTATCTCCCAGCAAACACTGAGAGGAGGAAGTTGACCCTGCAGCGGAAGCGGGAGGAATAT
TTTGGCTTCATTGAACAGTATTATGACTCTCGAAACGAGGAACATCACCAGGATACCTACAGACAGATTCACATTGACATTCCAAGGACGAATCCTCTCATTCCG
TTGTTCCAGCAACCACTTGTACAGGAGATCTTTGAAAGAATTCTATTTATTTGGGCCATCCGCCACCCTGCCAGTGGGTATGTCCAGGGAATTAATGACCTGGTC
ACTCCATTCTTTGTCGTCTTCCTCTCAGAATATGTGGAAGAGGATGTGGAGAACTTTGACGTGACCAACTTGTCTCAAGACATGCTGCGAAGCATTGAGGCTGAC
AGCTTTTGGTGCATGAGCAAGCTGCTGGATGGAATCCAGGATAACTACACCTTTGCACAACCAGGAATCCAGAAGAAGGTGAAGGCACTGGAAGAGCTTGTCAGC
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>TBC1D22B|55633|protein
MAAENSKQFWKRSAKLPGSIQPVYGAQHPPLDPRLTKNFIKERSKVNTVPLKNKKASSFHEFARNTSDAWDIGDDEEEDFSSPSFQTLNSKVALATAAQVLENHS
KLRVKPERSQSTTSDVPANYKVIKSSSDAQLSRNSSDTCLRNPLHKQQSLPLRPIIPLVARISDQNASGAPPMTVREKTRLEKFRQLLSSQNTDLDELRKCSWPG
VPREVRPITWRLLSGYLPANTERRKLTLQRKREEYFGFIEQYYDSRNEEHHQDTYRQIHIDIPRTNPLIPLFQQPLVQEIFERILFIWAIRHPASGYVQGINDLV
TPFFVVFLSEYVEEDVENFDVTNLSQDMLRSIEADSFWCMSKLLDGIQDNYTFAQPGIQKKVKALEELVSRIDEQVHNHFRRYEVEYLQFAFRWMNNLLMRELPL
RCTIRLWDTYQSEPEGFSHFHLYVCAAFLIKWRKEILDEEDFQGLLMLLQNLPTIHWGNEEIGLLLAEAYRLKYMFADAPNHYRR
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MAAENSKQFWKRSAKLPGSIQPVYGAQHPPLDPRLTKNFIKERSKVNTVPLKNKKASSFHEFARNTSDAWDIGDDEEEDFSSPSFQTLNSKVALATAAQVLENHS
KLRVKPERSQSTTSDVPANYKVIKSSSDAQLSRNSSDTCLRNPLHKQQSLPLRPIIPLVARISDQNASGAPPMTVREKTRLEKFRQLLSSQNTDLDELRKCSWPG
VPREVRPITWRLLSGYLPANTERRKLTLQRKREEYFGFIEQYYDSRNEEHHQDTYRQIHIDIPRTNPLIPLFQQPLVQEIFERILFIWAIRHPASGYVQGINDLV
TPFFVVFLSEYVEEDVENFDVTNLSQDMLRSIEADSFWCMSKLLDGIQDNYTFAQPGIQKKVKALEELVSRIDEQVHNHFRRYEVEYLQFAFRWMNNLLMRELPL
RCTIRLWDTYQSEPEGFSHFHLYVCAAFLIKWRKEILDEEDFQGLLMLLQNLPTIHWGNEEIGLLLAEAYRLKYMFADAPNHYRR
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 14 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Liu X, 2016_2 | replication | TaqMan | 1409 (-) |  |  | ASD | - - |
- | 184 (-) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
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| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Turner TN, 2017 | - | Illumina X Ten | - | - | - | 476 | 476 | - | 2064 | Sanger sequencing |
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.