Evidence Details for GLT6D1
Basic Information Top
| Gene Symbol: | GLT6D1 ( GLTDC1,GT6M7 ) |
|---|---|
| Gene Full Name: | glycosyltransferase 6 domain containing 1 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:360203; OMIM: NA; Uniprot ID:GL6D1_HUMAN; ENSEMBL ID: ENSG00000204007; HGNC ID: 23671 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GLT6D1|360203|nucleotide
ATGAATTCTAAAAGAATGCTGTTATTGGTTTTATTTGCTTTTTCACTGATGTTGGTTGAGCGTTATTTCAGGAATCACCAAGTAGAAGAACTTCGGCTCTCAGAC
TGGTTTCATCCTAGAAAACGCCCTGATGTTATAACGAAAACAGACTGGCTCGCTCCTGTCCTATGGGAAGGGACTTTCGACAGGCGGGTCCTGGAAAAACATTAC
AGAAGGCGGAATATCACTGTGGGCCTGGCCGTCTTTGCTACTGGCAGGTTTGCAGAGGAGTACCTGAGGCCGTTCCTACACTCCGCAAATAAGCACTTCATGACA
GGCTACCGAGTGATCTTCTACATCATGGTGGACGCCTTCTTCAAGCTGCCTGACATAGAGCCCAGTCCTCTTCGAACGTTCAAAGCATTTAAAGTGGGCACCGAG
AGGTGGTGGCTCGATGGCCCCCTGGTGCATGTGAAGAGCCTGGGTGAACACATCGCCAGTCACATCCAGGACGAGGTGGACTTCCTCTTCAGCATGGCTGCCAAC
CAGGTCTTCCAGAATGAGTTCGGGGTGGAGACCCTGGGCCCGTTGGTGGCCCAGCTCCACGCCTGGTGGTATTTCAGAAACACCAAGAACTTCCCTTATGAGAGG
AGGCCGACCTCAGCAGCTTGCATCCCGTTTGGACAGGGAGATTTCTATTATGGCAACTTGATGGTTGGTGGCACACCCCATAATATTTTAGACTTCATCAAAGAA
TATCTGAACGGAGTTATTCATGACATCAAAAATGGACTCAATAGCACTTATGAAAAGCACCTTAACAAATATTTTTACCTCAATAAACCCACCTAG
Show »
ATGAATTCTAAAAGAATGCTGTTATTGGTTTTATTTGCTTTTTCACTGATGTTGGTTGAGCGTTATTTCAGGAATCACCAAGTAGAAGAACTTCGGCTCTCAGAC
TGGTTTCATCCTAGAAAACGCCCTGATGTTATAACGAAAACAGACTGGCTCGCTCCTGTCCTATGGGAAGGGACTTTCGACAGGCGGGTCCTGGAAAAACATTAC
AGAAGGCGGAATATCACTGTGGGCCTGGCCGTCTTTGCTACTGGCAGGTTTGCAGAGGAGTACCTGAGGCCGTTCCTACACTCCGCAAATAAGCACTTCATGACA
GGCTACCGAGTGATCTTCTACATCATGGTGGACGCCTTCTTCAAGCTGCCTGACATAGAGCCCAGTCCTCTTCGAACGTTCAAAGCATTTAAAGTGGGCACCGAG
AGGTGGTGGCTCGATGGCCCCCTGGTGCATGTGAAGAGCCTGGGTGAACACATCGCCAGTCACATCCAGGACGAGGTGGACTTCCTCTTCAGCATGGCTGCCAAC
CAGGTCTTCCAGAATGAGTTCGGGGTGGAGACCCTGGGCCCGTTGGTGGCCCAGCTCCACGCCTGGTGGTATTTCAGAAACACCAAGAACTTCCCTTATGAGAGG
AGGCCGACCTCAGCAGCTTGCATCCCGTTTGGACAGGGAGATTTCTATTATGGCAACTTGATGGTTGGTGGCACACCCCATAATATTTTAGACTTCATCAAAGAA
TATCTGAACGGAGTTATTCATGACATCAAAAATGGACTCAATAGCACTTATGAAAAGCACCTTAACAAATATTTTTACCTCAATAAACCCACCTAG
Show »
>GLT6D1|360203|protein
MNSKRMLLLVLFAFSLMLVERYFRNHQVEELRLSDWFHPRKRPDVITKTDWLAPVLWEGTFDRRVLEKHYRRRNITVGLAVFATGRFAEEYLRPFLHSANKHFMT
GYRVIFYIMVDAFFKLPDIEPSPLRTFKAFKVGTERWWLDGPLVHVKSLGEHIASHIQDEVDFLFSMAANQVFQNEFGVETLGPLVAQLHAWWYFRNTKNFPYER
RPTSAACIPFGQGDFYYGNLMVGGTPHNILDFIKEYLNGVIHDIKNGLNSTYEKHLNKYFYLNKPT
Show »
MNSKRMLLLVLFAFSLMLVERYFRNHQVEELRLSDWFHPRKRPDVITKTDWLAPVLWEGTFDRRVLEKHYRRRNITVGLAVFATGRFAEEYLRPFLHSANKHFMT
GYRVIFYIMVDAFFKLPDIEPSPLRTFKAFKVGTERWWLDGPLVHVKSLGEHIASHIQDEVDFLFSMAANQVFQNEFGVETLGPLVAQLHAWWYFRNTKNFPYER
RPTSAACIPFGQGDFYYGNLMVGGTPHNILDFIKEYLNGVIHDIKNGLNSTYEKHLNKYFYLNKPT
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 (1) | 0 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | | | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
Low 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.