Evidence Details for TFEB
Basic Information Top
Gene Symbol: | TFEB ( ALPHATFEB,BHLHE35,TCFEB ) |
---|---|
Gene Full Name: | transcription factor EB |
Band: | 6p21.1 |
Quick Links | Entrez ID:7942; OMIM: 600744; Uniprot ID:TFEB_HUMAN; ENSEMBL ID: ENSG00000112561; HGNC ID: 11753 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TFEB|7942|nucleotide
ATGGCGTCACGCATAGGGTTGCGCATGCAGCTCATGCGGGAGCAGGCGCAGCAGGAGGAGCAGCGGGAGCGCATGCAGCAACAGGCTGTCATGCATTACATGCAG
CAGCAGCAGCAGCAGCAACAGCAGCAGCTCGGAGGGCCGCCCACCCCGGCCATCAATACCCCCGTCCACTTCCAGTCGCCACCACCTGTGCCTGGGGAGGTGTTG
AAGGTGCAGTCCTACCTGGAGAATCCCACATCCTACCATCTGCAGCAGTCGCAGCATCAGAAGGTGCGGGAGTACCTGTCCGAGACCTATGGGAACAAGTTTGCT
GCCCACATCAGCCCAGCCCAGGGCTCTCCGAAACCCCCACCAGCCGCCTCCCCAGGGGTGCGAGCTGGACACGTGCTGTCCTCCTCCGCTGGCAACAGTGCTCCC
AATAGCCCCATGGCCATGCTGCACATTGGCTCCAACCCTGAGAGGGAGTTGGATGATGTCATTGACAACATTATGCGTCTGGACGATGTCCTTGGCTACATCAAT
CCTGAAATGCAGATGCCCAACACGCTACCCCTGTCCAGCAGCCACCTGAATGTGTACAGCAGCGACCCCCAGGTCACAGCCTCCCTGGTGGGCGTCACCAGCAGC
TCCTGCCCTGCGGACCTGACCCAGAAGCGAGAGCTCACAGATGCTGAGAGCAGGGCCCTGGCCAAGGAGCGGCAGAAGAAAGACAATCACAACTTAATTGAAAGG
AGACGAAGGTTCAACATCAATGACCGCATCAAGGAGTTGGGAATGCTGATCCCCAAGGCCAATGACCTGGACGTGCGCTGGAACAAGGGCACCATCCTCAAGGCC
TCTGTGGATTACATCCGGAGGATGCAGAAGGACCTGCAAAAGTCCAGGGAGCTGGAGAACCACTCTCGCCGCCTGGAGATGACCAACAAGCAGCTCTGGCTCCGT
ATCCAGGAGCTGGAGATGCAGGCTCGAGTGCACGGCCTCCCTACCACCTCCCCGTCCGGCATGAACATGGCTGAGCTGGCCCAGCAGGTGGTGAAGCAGGAGCTG
CCTAGCGAAGAGGGCCCAGGGGAGGCCCTGATGCTGGGGGCTGAGGTCCCTGACCCTGAGCCACTGCCAGCTCTGCCCCCGCAAGCCCCGCTGCCCCTGCCCACC
Show »
ATGGCGTCACGCATAGGGTTGCGCATGCAGCTCATGCGGGAGCAGGCGCAGCAGGAGGAGCAGCGGGAGCGCATGCAGCAACAGGCTGTCATGCATTACATGCAG
CAGCAGCAGCAGCAGCAACAGCAGCAGCTCGGAGGGCCGCCCACCCCGGCCATCAATACCCCCGTCCACTTCCAGTCGCCACCACCTGTGCCTGGGGAGGTGTTG
AAGGTGCAGTCCTACCTGGAGAATCCCACATCCTACCATCTGCAGCAGTCGCAGCATCAGAAGGTGCGGGAGTACCTGTCCGAGACCTATGGGAACAAGTTTGCT
GCCCACATCAGCCCAGCCCAGGGCTCTCCGAAACCCCCACCAGCCGCCTCCCCAGGGGTGCGAGCTGGACACGTGCTGTCCTCCTCCGCTGGCAACAGTGCTCCC
AATAGCCCCATGGCCATGCTGCACATTGGCTCCAACCCTGAGAGGGAGTTGGATGATGTCATTGACAACATTATGCGTCTGGACGATGTCCTTGGCTACATCAAT
CCTGAAATGCAGATGCCCAACACGCTACCCCTGTCCAGCAGCCACCTGAATGTGTACAGCAGCGACCCCCAGGTCACAGCCTCCCTGGTGGGCGTCACCAGCAGC
TCCTGCCCTGCGGACCTGACCCAGAAGCGAGAGCTCACAGATGCTGAGAGCAGGGCCCTGGCCAAGGAGCGGCAGAAGAAAGACAATCACAACTTAATTGAAAGG
AGACGAAGGTTCAACATCAATGACCGCATCAAGGAGTTGGGAATGCTGATCCCCAAGGCCAATGACCTGGACGTGCGCTGGAACAAGGGCACCATCCTCAAGGCC
TCTGTGGATTACATCCGGAGGATGCAGAAGGACCTGCAAAAGTCCAGGGAGCTGGAGAACCACTCTCGCCGCCTGGAGATGACCAACAAGCAGCTCTGGCTCCGT
ATCCAGGAGCTGGAGATGCAGGCTCGAGTGCACGGCCTCCCTACCACCTCCCCGTCCGGCATGAACATGGCTGAGCTGGCCCAGCAGGTGGTGAAGCAGGAGCTG
CCTAGCGAAGAGGGCCCAGGGGAGGCCCTGATGCTGGGGGCTGAGGTCCCTGACCCTGAGCCACTGCCAGCTCTGCCCCCGCAAGCCCCGCTGCCCCTGCCCACC
Show »
>TFEB|7942|protein
MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQLGGPPTPAINTPVHFQSPPPVPGEVLKVQSYLENPTSYHLQQSQHQKVREYLSETYGNKFA
AHISPAQGSPKPPPAASPGVRAGHVLSSSAGNSAPNSPMAMLHIGSNPERELDDVIDNIMRLDDVLGYINPEMQMPNTLPLSSSHLNVYSSDPQVTASLVGVTSS
SCPADLTQKRELTDAESRALAKERQKKDNHNLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGTILKASVDYIRRMQKDLQKSRELENHSRRLEMTNKQLWLR
IQELEMQARVHGLPTTSPSGMNMAELAQQVVKQELPSEEGPGEALMLGAEVPDPEPLPALPPQAPLPLPTQPPSPFHHLDFSHSLSFGGREDEGPPGYPEPLAPG
HGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMSPEASKASSRRSSFSMEEGDVL
Show »
MASRIGLRMQLMREQAQQEEQRERMQQQAVMHYMQQQQQQQQQQLGGPPTPAINTPVHFQSPPPVPGEVLKVQSYLENPTSYHLQQSQHQKVREYLSETYGNKFA
AHISPAQGSPKPPPAASPGVRAGHVLSSSAGNSAPNSPMAMLHIGSNPERELDDVIDNIMRLDDVLGYINPEMQMPNTLPLSSSHLNVYSSDPQVTASLVGVTSS
SCPADLTQKRELTDAESRALAKERQKKDNHNLIERRRRFNINDRIKELGMLIPKANDLDVRWNKGTILKASVDYIRRMQKDLQKSRELENHSRRLEMTNKQLWLR
IQELEMQARVHGLPTTSPSGMNMAELAQQVVKQELPSEEGPGEALMLGAEVPDPEPLPALPPQAPLPLPTQPPSPFHHLDFSHSLSFGGREDEGPPGYPEPLAPG
HGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMSPEASKASSRRSSFSMEEGDVL
Show »
Evidence summary Top
Click 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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
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 Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
Contact 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.