Evidence Details for TIMM17B
Basic Information Top
| Gene Symbol: | TIMM17B ( DXS9822,TIM17B ) |
|---|---|
| Gene Full Name: | translocase of inner mitochondrial membrane 17 homolog B (yeast) |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:10245; OMIM: 300249; Uniprot ID:TI17B_HUMAN; ENSEMBL ID: ENSG00000126768; HGNC ID: 17310 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TIMM17B|10245|nucleotide
ATGGAGGAGTACGCTCGGGAGCCCTGCCCATGGCGAATTGTGGATGATTGCGGTGGAGCCTTCACTATGGGTGTCATCGGTGGCGGAGTCTTCCAGGCCATCAAG
GGTTTCCGCAATGCCCCTGTTTGCAGATTGCTGTCTGAAGCTCCCTTGTTTATCTACTCTTGCTCAAGATCTGTGTCTCCCACCGTTAATGTGAGCTCTGAGAGG
GCAGAGAGCAGACCTACCTTGTTCATGGCTGTATCCCTGCATATGGCATGGTGCTTGGCACATATAGGAATTCGGCACCGGTTGAGAGGTAGTGCCAATGCTGTG
AGGATCCGAGCCCCCCAGATTGGAGGTAGCTTCGCAGTGTGGGGGGGCCTGTTCTCCACCATTGACTGTGGCCTGGTGCGGCTTCGGGGCAAGGAGGATCCCTGG
AACTCTATCACCAGTGGAGCATTGACCGGGGCTGTGCTGGCTGCCCGCAGTGGCCCACTGGCCATGGTGGGCTCAGCAATGATGGGGGGCATCCTGTTGGCCCTC
ATTGAGGGCGTTGGCATCCTCCTCACTCGCTACACAGCCCAGCAGTTCCGAAATGCGCCCCCATTCCTGGAGGACCCCAGCCAGCTGCCCCCTAAGGATGGCACC
CCGGCCCCAGGCTACCCCAGCTATCAGCAGTACCACTGA
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ATGGAGGAGTACGCTCGGGAGCCCTGCCCATGGCGAATTGTGGATGATTGCGGTGGAGCCTTCACTATGGGTGTCATCGGTGGCGGAGTCTTCCAGGCCATCAAG
GGTTTCCGCAATGCCCCTGTTTGCAGATTGCTGTCTGAAGCTCCCTTGTTTATCTACTCTTGCTCAAGATCTGTGTCTCCCACCGTTAATGTGAGCTCTGAGAGG
GCAGAGAGCAGACCTACCTTGTTCATGGCTGTATCCCTGCATATGGCATGGTGCTTGGCACATATAGGAATTCGGCACCGGTTGAGAGGTAGTGCCAATGCTGTG
AGGATCCGAGCCCCCCAGATTGGAGGTAGCTTCGCAGTGTGGGGGGGCCTGTTCTCCACCATTGACTGTGGCCTGGTGCGGCTTCGGGGCAAGGAGGATCCCTGG
AACTCTATCACCAGTGGAGCATTGACCGGGGCTGTGCTGGCTGCCCGCAGTGGCCCACTGGCCATGGTGGGCTCAGCAATGATGGGGGGCATCCTGTTGGCCCTC
ATTGAGGGCGTTGGCATCCTCCTCACTCGCTACACAGCCCAGCAGTTCCGAAATGCGCCCCCATTCCTGGAGGACCCCAGCCAGCTGCCCCCTAAGGATGGCACC
CCGGCCCCAGGCTACCCCAGCTATCAGCAGTACCACTGA
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>TIMM17B|10245|protein
MEEYAREPCPWRIVDDCGGAFTMGVIGGGVFQAIKGFRNAPVCRLLSEAPLFIYSCSRSVSPTVNVSSERAESRPTLFMAVSLHMAWCLAHIGIRHRLRGSANAV
RIRAPQIGGSFAVWGGLFSTIDCGLVRLRGKEDPWNSITSGALTGAVLAARSGPLAMVGSAMMGGILLALIEGVGILLTRYTAQQFRNAPPFLEDPSQLPPKDGT
PAPGYPSYQQYH
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MEEYAREPCPWRIVDDCGGAFTMGVIGGGVFQAIKGFRNAPVCRLLSEAPLFIYSCSRSVSPTVNVSSERAESRPTLFMAVSLHMAWCLAHIGIRHRLRGSANAV
RIRAPQIGGSFAVWGGLFSTIDCGLVRLRGKEDPWNSITSGALTGAVLAARSGPLAMVGSAMMGGILLALIEGVGILLTRYTAQQFRNAPPFLEDPSQLPPKDGT
PAPGYPSYQQYH
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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 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | |  | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
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.