Detailed information for TIMM8A
Basic information
| Official symbol | TIMM8A |
|---|---|
| Official full name | translocase of inner mitochondrial membrane 8 homolog A (yeast) |
| Location | Xq22.1 |
| Gene type | protein-coding |
| Synonyms | DDP|DDP1|DFN1|MTS|TIM8 |
| Quick links | Entrez ID:1678; HGNC:11817; MIM:300356; Ensembl:ENSG00000126953; HPRD:02287; Vega:OTTHUMG00000022028 |
GO related
| GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-Value |
|---|---|---|---|---|---|---|---|
| GO:0044707 | single-multicellular organism process | 5612 | 143 | 69.81 | 2.05 | 9.21e-29 | 7.72e-27 |
| GO:0032501 | multicellular organismal process | 5644 | 143 | 70.21 | 2.04 | 1.83e-28 | 1.43e-26 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chrX | 100602025 | 100604708 | - | "Deafness, X-linked 1, progressive" | 3 | 300356 | Xq22.1 |
| chrX | 100602025 | 100604708 | 311150 | Jensen syndrome | 3 | 300356 | Xq22.1 |
| chrX | 100602025 | 100604708 | 304700 | Mohr-Tranebjaerg syndrome | 3 | 300356 | Xq22.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chrX | 100602025 | 100604708 | 1678 | Timm8a1 | MGI:1353433 | - | - |
Mutation spectrum
If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.
Gene-disease network
If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.
Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.