Evidence Details for TMBIM6
Basic Information Top
| Gene Symbol: | TMBIM6 ( BAXI1,BI-1,TEGT ) |
|---|---|
| Gene Full Name: | transmembrane BAX inhibitor motif containing 6 |
| Band: | 12q13.12 |
| Quick Links | Entrez ID:7009; OMIM: 600748; Uniprot ID:BI1_HUMAN; ENSEMBL ID: ENSG00000139644; HGNC ID: 11723 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TMBIM6|7009|nucleotide
ATGTCACACTCCTCTGTGACACGCGAGGCTCCTCAGTTACTTAGCCAACGGCAGAGGCGGGAAGTGAGAGGAGTCTGGGGCTGGGGCTGCCTTCCAGGCCCACGG
GGCGGCCCCGCTCTTTTCGGATTGGTTACCTTTGGGCAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCG
CTTTTAAAATTTTCTCATATAACCCCGTCAACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTC
CATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAG
AAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCT
TTCATGGGCACGGCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGC
TTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTT
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACTCATG
ATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGA
Show »
ATGTCACACTCCTCTGTGACACGCGAGGCTCCTCAGTTACTTAGCCAACGGCAGAGGCGGGAAGTGAGAGGAGTCTGGGGCTGGGGCTGCCTTCCAGGCCCACGG
GGCGGCCCCGCTCTTTTCGGATTGGTTACCTTTGGGCAGAGTGGAGACTGCTGCACGGACTCTGGAACCATGAACATATTTGATCGAAAGATCAACTTTGATGCG
CTTTTAAAATTTTCTCATATAACCCCGTCAACGCAGCAGCACCTGAAGAAGGTCTATGCAAGTTTTGCCCTTTGTATGTTTGTGGCGGCTGCAGGGGCCTATGTC
CATATGGTCACTCATTTCATTCAGGCTGGCCTGCTGTCTGCCTTGGGCTCCCTGATATTGATGATTTGGCTGATGGCAACACCTCATAGCCATGAAACTGAACAG
AAAAGACTGGGACTTCTTGCTGGATTTGCATTCCTTACAGGAGTTGGCCTGGGCCCTGCCCTGGAGTTTTGTATTGCTGTCAACCCCAGCATCCTTCCCACTGCT
TTCATGGGCACGGCAATGATCTTTACCTGCTTCACCCTCAGTGCACTCTATGCCAGGCGCCGTAGCTACCTCTTTCTGGGAGGTATCTTGATGTCAGCCCTGAGC
TTGTTGCTTTTGTCTTCCCTGGGGAATGTTTTCTTTGGATCCATTTGGCTTTTCCAGGCAAACCTGTATGTGGGACTGGTGGTCATGTGTGGCTTCGTCCTTTTT
GATACTCAACTCATTATTGAAAAGGCCGAACATGGAGATCAAGATTATATCTGGCACTGCATTGATCTCTTCTTAGATTTCATTACTGTCTTCAGAAAACTCATG
ATGATCCTGGCCATGAATGAAAAGGATAAGAAGAAAGAGAAGAAATGA
Show »
>TMBIM6|7009|protein
MSHSSVTREAPQLLSQRQRREVRGVWGWGCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYV
HMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALS
LLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK
Show »
MSHSSVTREAPQLLSQRQRREVRGVWGWGCLPGPRGGPALFGLVTFGQSGDCCTDSGTMNIFDRKINFDALLKFSHITPSTQQHLKKVYASFALCMFVAAAGAYV
HMVTHFIQAGLLSALGSLILMIWLMATPHSHETEQKRLGLLAGFAFLTGVGLGPALEFCIAVNPSILPTAFMGTAMIFTCFTLSALYARRRSYLFLGGILMSALS
LLLLSSLGNVFFGSIWLFQANLYVGLVVMCGFVLFDTQLIIEKAEHGDQDYIWHCIDLFLDFITVFRKLMMILAMNEKDKKKEKK
Show »
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) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top