Evidence Details for MBOAT7
Basic Information Top
Gene Symbol: | MBOAT7 ( BB1,FLJ41296,LENG4,LPIAT,LRC4,MBOA7,OACT7,hMBOA-7 ) |
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Gene Full Name: | membrane bound O-acyltransferase domain containing 7 |
Band: | 19q13.42 |
Quick Links | Entrez ID:79143; OMIM: 606048; Uniprot ID:MBOA7_HUMAN; ENSEMBL ID: ENSG00000125505; HGNC ID: 15505 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>MBOAT7|79143|nucleotide
ATGGGGAGCAGCCGCTGTGGGCCTGGGGCTCACCCTGTTCACCTGTGGCCCCCACACTTTGCATTCTCTGGTCACCATCCTCGGGACCTGGGCCCTCATTCAGGC
CCAGCCCTGCTGGTGAGCCTGGCCAGTGAAGTCCAGGACCTGCATCTGGCCCAGAGGAAGGAAATGGCCTCAGGCTTCAGCAAGGGGCCCACCCTGGGGCTGCTG
CCCGACGTGCCCTCCCTGATGGAGACACTCAGCTACAGCTACTGCTACGTGGGAATCATGACAGGCCCGTTCTTCCGCTACCGCACCTACCTGGACTGGCTGGAG
CAGCCCTTCCCCGGGGCAGTGCCCAGCCTGCGGCCCCTGCTGCGCCGCGCCTGGCCGGCCCCGCTCTTCGGCCTGCTGTTCCTGCTCTCCTCTCACCTCTTCCCG
CTGGAGGCCGTGCGCGAGGACGCCTTCTACGCCCGCCCGCTGCCCGCCCGCCTCTTCTACATGATCCCCGTCTTCTTCGCCTTCCGCATGCGCTTCTACGTGGCC
TGGATTGCCGCCGAGTGCGGCTGCATTGCCGCCGGCTTTGGGGCCTACCCCGTGGCCGCCAAAGCCCGGGCCGGAGGCGGCCCCACCCTCCAATGCCCACCCCCC
AGCAGTCCGGAGAAGGCGGCTTCCTTGGAGTATGACTATGAGACCATCCGCAACATCGACTGCTACAGCACAGATTTCTGCGTGCGGGTGCGCGATGGCATGCGG
TACTGGAACATGACGGTGCAGTGGTGGCTGGCGCAGTATATCTACAAGAGCGCACCTGCCCGTTCCTATGTCCTGCGGAGCGCCTGGACCATGCTGCTGAGCGCC
TACTGGCACGGCCTCCACCCGGGCTACTACCTGAGCTTCCTGACCATCCCGCTGTGCCTGGCTGCCGAGGGCCGGCTGGAGTCAGCCCTGCGGGGGCGGCTGAGC
CCAGGGGGCCAGAAGGCCTGGGACTGGGTGCACTGGTTCCTGAAGATGCGCGCCTATGACTACATGTGCATGGGCTTCGTGCTGCTCTCCTTGGCCGACACCCTT
CGGTACTGGGCCTCCATCTACTTCTGTATCCACTTCCTGGCCCTGGCAGCCCTGGGGCTGGGGCTGGCTTTAGGTGGGGGCAGCCCCAGCCGGCGGAAGGCAGCA
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ATGGGGAGCAGCCGCTGTGGGCCTGGGGCTCACCCTGTTCACCTGTGGCCCCCACACTTTGCATTCTCTGGTCACCATCCTCGGGACCTGGGCCCTCATTCAGGC
CCAGCCCTGCTGGTGAGCCTGGCCAGTGAAGTCCAGGACCTGCATCTGGCCCAGAGGAAGGAAATGGCCTCAGGCTTCAGCAAGGGGCCCACCCTGGGGCTGCTG
CCCGACGTGCCCTCCCTGATGGAGACACTCAGCTACAGCTACTGCTACGTGGGAATCATGACAGGCCCGTTCTTCCGCTACCGCACCTACCTGGACTGGCTGGAG
CAGCCCTTCCCCGGGGCAGTGCCCAGCCTGCGGCCCCTGCTGCGCCGCGCCTGGCCGGCCCCGCTCTTCGGCCTGCTGTTCCTGCTCTCCTCTCACCTCTTCCCG
CTGGAGGCCGTGCGCGAGGACGCCTTCTACGCCCGCCCGCTGCCCGCCCGCCTCTTCTACATGATCCCCGTCTTCTTCGCCTTCCGCATGCGCTTCTACGTGGCC
TGGATTGCCGCCGAGTGCGGCTGCATTGCCGCCGGCTTTGGGGCCTACCCCGTGGCCGCCAAAGCCCGGGCCGGAGGCGGCCCCACCCTCCAATGCCCACCCCCC
AGCAGTCCGGAGAAGGCGGCTTCCTTGGAGTATGACTATGAGACCATCCGCAACATCGACTGCTACAGCACAGATTTCTGCGTGCGGGTGCGCGATGGCATGCGG
TACTGGAACATGACGGTGCAGTGGTGGCTGGCGCAGTATATCTACAAGAGCGCACCTGCCCGTTCCTATGTCCTGCGGAGCGCCTGGACCATGCTGCTGAGCGCC
TACTGGCACGGCCTCCACCCGGGCTACTACCTGAGCTTCCTGACCATCCCGCTGTGCCTGGCTGCCGAGGGCCGGCTGGAGTCAGCCCTGCGGGGGCGGCTGAGC
CCAGGGGGCCAGAAGGCCTGGGACTGGGTGCACTGGTTCCTGAAGATGCGCGCCTATGACTACATGTGCATGGGCTTCGTGCTGCTCTCCTTGGCCGACACCCTT
CGGTACTGGGCCTCCATCTACTTCTGTATCCACTTCCTGGCCCTGGCAGCCCTGGGGCTGGGGCTGGCTTTAGGTGGGGGCAGCCCCAGCCGGCGGAAGGCAGCA
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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 |
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Score (No. of Studies) | No | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (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 | ||||||
Zwaag, 2009 | - | SNP microarray | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | autism | - | - | - | - | 12 | 44 | 56 |
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 |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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