Evidence Details for GOLGA6L1
Basic Information Top
Gene Symbol: | GOLGA6L1 ( FLJ36131,FLJ40198 ) |
---|---|
Gene Full Name: | golgin A6 family-like 1 |
Band: | 15q11.2 |
Quick Links | Entrez ID:283767; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000197414; HGNC ID: 37444 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GOLGA6L1|283767|nucleotide
ATGCTGATGTGGCCCCAACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACC
CATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCTATGATGTCCAAAGAAACCAGACAGAGCAAATTGGCCGAGGCCAAGGAACAGTTGACAGACCAT
CATCCCCAGACCAACCCTAGTGTTGGTACAGCAGCAAGCGACACCAAAAAGAAGAAAATAAATAATGGCACTAACCCTGAGACAACCACTTCTGGTGGTTGCCAC
TCGCCTGAGGATGAACAGAAGGCAAGCCACCAACATCAGGAAGCCCTAAGGAGGGAGCTAGAGGCCCAGGTTCATACCATACGAATCCTTACATGTCAGAAAACT
GAGCTTCAGATGGCACTCTACTACAGCCAGCATGCTGTCAAGCAGTTGGAAGGAGAGGCCAGGGATCTGATCAGCCGCCTGCATGATTCATGGAAGTTTGCAGGA
GAGTTAGAGCAGGCTCTCTCTGCTGTCGCTACACAGAAGAAGAAGGCGGATAGGTACATTGAGGAGTTAACAAAGGAGAGGGACGCCCTGAGTCTGGAACTGTAC
AGGAACACCATAACTGATGAGGAGCTGAAGGAGAAAAATGCCAAACTACAAGAAAAACTTCAACTTGTAGAATCTGAAAAGTCTGAGATCCAGCTCAACGTAAAG
GAGCTAAAAAGGAAACTGGAGAGGGCCAAGCTCCTGCTGCCACAGCAGCAGCTGCAGGCGGAGGCTGACCACCTGGGTAAGGAGCTGCAGAGTGTGTCAGCAAAG
CTCCAAGCCCAGGTGGAAGAGAACGAGTTGTGGAACCGCCTGAACCAGCAACAGGAGGAGAAGATGTGGAGGCAGGAGGAGAAGATACAGGAGTGGGAGGAGAAG
ATACAGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAG
ATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCTGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAG
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ATGCTGATGTGGCCCCAACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTACC
CATCCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCTATGATGTCCAAAGAAACCAGACAGAGCAAATTGGCCGAGGCCAAGGAACAGTTGACAGACCAT
CATCCCCAGACCAACCCTAGTGTTGGTACAGCAGCAAGCGACACCAAAAAGAAGAAAATAAATAATGGCACTAACCCTGAGACAACCACTTCTGGTGGTTGCCAC
TCGCCTGAGGATGAACAGAAGGCAAGCCACCAACATCAGGAAGCCCTAAGGAGGGAGCTAGAGGCCCAGGTTCATACCATACGAATCCTTACATGTCAGAAAACT
GAGCTTCAGATGGCACTCTACTACAGCCAGCATGCTGTCAAGCAGTTGGAAGGAGAGGCCAGGGATCTGATCAGCCGCCTGCATGATTCATGGAAGTTTGCAGGA
GAGTTAGAGCAGGCTCTCTCTGCTGTCGCTACACAGAAGAAGAAGGCGGATAGGTACATTGAGGAGTTAACAAAGGAGAGGGACGCCCTGAGTCTGGAACTGTAC
AGGAACACCATAACTGATGAGGAGCTGAAGGAGAAAAATGCCAAACTACAAGAAAAACTTCAACTTGTAGAATCTGAAAAGTCTGAGATCCAGCTCAACGTAAAG
GAGCTAAAAAGGAAACTGGAGAGGGCCAAGCTCCTGCTGCCACAGCAGCAGCTGCAGGCGGAGGCTGACCACCTGGGTAAGGAGCTGCAGAGTGTGTCAGCAAAG
CTCCAAGCCCAGGTGGAAGAGAACGAGTTGTGGAACCGCCTGAACCAGCAACAGGAGGAGAAGATGTGGAGGCAGGAGGAGAAGATACAGGAGTGGGAGGAGAAG
ATACAGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAG
ATGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATGCGGAGGCTGGAGGAGATGATGTGGGAGAAGGAGGAGAAGATACGGGAGCTGGAAGAGAAG
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>GOLGA6L1|283767|protein
MLMWPQPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCH
SPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELY
RNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEK
IQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWR
QEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKI
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MLMWPQPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPHLPTHPMMSKETRQSKLAEAKEQLTDHHPQTNPSVGTAASDTKKKKINNGTNPETTTSGGCH
SPEDEQKASHQHQEALRRELEAQVHTIRILTCQKTELQMALYYSQHAVKQLEGEARDLISRLHDSWKFAGELEQALSAVATQKKKADRYIEELTKERDALSLELY
RNTITDEELKEKNAKLQEKLQLVESEKSEIQLNVKELKRKLERAKLLLPQQQLQAEADHLGKELQSVSAKLQAQVEENELWNRLNQQQEEKMWRQEEKIQEWEEK
IQEQEEKIREQEEKIREQEEKMRRQEEMMWEKEEKMRRQEEMMWEKEEKMRRLEEMMWEKEEKIRELEEKMHEQEKIREQEEKRQEEEKIREQEKRQEQEAKMWR
QEEKIREQEEKIREQEKKMWRQEEKIHEQEKIREEEKRQEQEEMWRQEEKIREQEEIWRQKEKMHEQEKIRKQEEKVWRQEEKMHDQEEKIREQEEKMWRQEEKI
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Evidence summary Top
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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) | 2 (16) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (16) |
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 | ||||||
Wolpert, 2000 | - | STS mapping | autism | 3 | - | 3 | - | 3 | - | 3 | ||
Wassink, 2001 | USA | Chromosomal analysis of G-band | autism | - | - | - | - | 278 | - | 278 | ||
Silva, 2002 | - | FISH | autism | - | - | - | - | 1 | - | 1 | ||
Keller, 2003 | USA | FISH | ASD | - | - | - | - | 2 | - | 2 | ||
Sahoo, 2005 | USA | aCGH | autism | - | - | - | - | 9 | - | 9 | ||
Wassink, 2007 | USA | FISH | PDD | - | - | - | - | 104 | - | 104 | ||
Sebat, 2007 | USA | aCGH | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 | ||
Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | ASD | 751 | - | - | - | 2252 | 23502 | 25754 | ||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Christian, 2008 | USA | aCGH | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 | ||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 | ||
Bremer, 2009 | - | aCGH | ASD | - | - | - | - | 148 | - | 148 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Laplana M, 2014 | - | aCGH | ASD | 1 | - | - | - | 1 | 5 | 6 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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