Evidence Details for ABCG4
Basic Information Top
Gene Symbol: | ABCG4 ( WHITE2 ) |
---|---|
Gene Full Name: | ATP-binding cassette, sub-family G (WHITE), member 4 |
Band: | 11q23.3 |
Quick Links | Entrez ID:64137; OMIM: 607784; Uniprot ID:ABCG4_HUMAN; ENSEMBL ID: ENSG00000172350; HGNC ID: 13884 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ABCG4|64137|nucleotide
ATGGCGGAGAAGGCGCTGGAGGCCGTGGGCTGTGGACTAGGGCCGGGGGCTGTGGCCATGGCCGTGACGCTGGAGGACGGGGCGGAACCCCCTGTGCTGACCACG
CACCTGAAGAAGGTGGAGAACCACATCACTGAAGCCCAGCGCTTCTCCCACCTACCCAAGCGCTCAGCCGTGGACATCGAGTTCGTGGAGCTGTCCTATTCCGTG
CGGGAGGGGCCCTGCTGGCGCAAAAGGGGTTATAAGACCCTTCTCAAGTGCCTCTCAGGTAAATTCTGCCGCCGGGAGCTGATTGGCATCATGGGCCCCTCAGGG
GCTGGCAAGTCTACATTCATGAACATCTTGGCAGGATACAGGGAGTCTGGAATGAAGGGGCAGATCCTGGTTAATGGAAGGCCACGGGAGCTGAGGACCTTCCGC
AAGATGTCCTGCTACATCATGCAAGATGACATGCTGCTGCCGCACCTCACGGTGTTGGAAGCCATGATGGTCTCTGCTAACCTGAAGCTGAGTGAGAAGCAGGAG
GTGAAGAAGGAGCTGGTGACAGAGATCCTGACGGCACTGGGCCTGATGTCGTGCTCCCACACGAGGACAGCCCTGCTCTCTGGCGGGCAGAGGAAGCGTCTGGCC
ATCGCCCTGGAGCTGGTCAACAACCCGCCTGTCATGTTCTTTGATGAGCCCACCAGTGGTCTGGATAGCGCCTCTTGTTTCCAAGTGGTGTCCCTCATGAAGTCC
CTGGCACAGGGGGGCCGTACCATCATCTGCACCATCCACCAGCCCAGTGCCAAGCTCTTTGAGATGTTTGACAAGCTCTACATCCTGAGCCAGGGTCAGTGCATC
TTCAAAGGCGTGGTCACCAACCTGATCCCCTATCTAAAGGGACTCGGCTTGCATTGCCCCACCTACCACAACCCGGCTGACTTCATCATCGAGGTGGCCTCTGGC
GAGTATGGAGACCTGAACCCCATGTTGTTCAGGGCTGTGCAGAATGGGCTGTGCGCTATGGCTGAGAAGAAGAGCAGCCCTGAGAAGAACGAGGTCCCTGCCCCA
TGCCCTCCTTGTCCTCCGGAAGTGGATCCCATTGAAAGCCACACCTTTGCCACCAGCACCCTCACACAGTTCTGCATCCTCTTCAAGAGGACCTTCCTGTCCATC
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ATGGCGGAGAAGGCGCTGGAGGCCGTGGGCTGTGGACTAGGGCCGGGGGCTGTGGCCATGGCCGTGACGCTGGAGGACGGGGCGGAACCCCCTGTGCTGACCACG
CACCTGAAGAAGGTGGAGAACCACATCACTGAAGCCCAGCGCTTCTCCCACCTACCCAAGCGCTCAGCCGTGGACATCGAGTTCGTGGAGCTGTCCTATTCCGTG
CGGGAGGGGCCCTGCTGGCGCAAAAGGGGTTATAAGACCCTTCTCAAGTGCCTCTCAGGTAAATTCTGCCGCCGGGAGCTGATTGGCATCATGGGCCCCTCAGGG
GCTGGCAAGTCTACATTCATGAACATCTTGGCAGGATACAGGGAGTCTGGAATGAAGGGGCAGATCCTGGTTAATGGAAGGCCACGGGAGCTGAGGACCTTCCGC
AAGATGTCCTGCTACATCATGCAAGATGACATGCTGCTGCCGCACCTCACGGTGTTGGAAGCCATGATGGTCTCTGCTAACCTGAAGCTGAGTGAGAAGCAGGAG
GTGAAGAAGGAGCTGGTGACAGAGATCCTGACGGCACTGGGCCTGATGTCGTGCTCCCACACGAGGACAGCCCTGCTCTCTGGCGGGCAGAGGAAGCGTCTGGCC
ATCGCCCTGGAGCTGGTCAACAACCCGCCTGTCATGTTCTTTGATGAGCCCACCAGTGGTCTGGATAGCGCCTCTTGTTTCCAAGTGGTGTCCCTCATGAAGTCC
CTGGCACAGGGGGGCCGTACCATCATCTGCACCATCCACCAGCCCAGTGCCAAGCTCTTTGAGATGTTTGACAAGCTCTACATCCTGAGCCAGGGTCAGTGCATC
TTCAAAGGCGTGGTCACCAACCTGATCCCCTATCTAAAGGGACTCGGCTTGCATTGCCCCACCTACCACAACCCGGCTGACTTCATCATCGAGGTGGCCTCTGGC
GAGTATGGAGACCTGAACCCCATGTTGTTCAGGGCTGTGCAGAATGGGCTGTGCGCTATGGCTGAGAAGAAGAGCAGCCCTGAGAAGAACGAGGTCCCTGCCCCA
TGCCCTCCTTGTCCTCCGGAAGTGGATCCCATTGAAAGCCACACCTTTGCCACCAGCACCCTCACACAGTTCTGCATCCTCTTCAAGAGGACCTTCCTGTCCATC
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>ABCG4|64137|protein
MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVDIEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSG
AGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLA
IALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKSLAQGGRTIICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCPTYHNPADFIIEVASG
EYGDLNPMLFRAVQNGLCAMAEKKSSPEKNEVPAPCPPCPPEVDPIESHTFATSTLTQFCILFKRTFLSILRDTVLTHLRFMSHVVIGVLIGLLYLHIGDDASKV
FNNTGCLFFSMLFLMFAALMPTVLTFPLEMAVFMREHLNYWYSLKAYYLAKTMADVPFQVVCPVVYCSIVYWMTGQPAETSRFLLFSALATATALVAQSLGLLIG
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MAEKALEAVGCGLGPGAVAMAVTLEDGAEPPVLTTHLKKVENHITEAQRFSHLPKRSAVDIEFVELSYSVREGPCWRKRGYKTLLKCLSGKFCRRELIGIMGPSG
AGKSTFMNILAGYRESGMKGQILVNGRPRELRTFRKMSCYIMQDDMLLPHLTVLEAMMVSANLKLSEKQEVKKELVTEILTALGLMSCSHTRTALLSGGQRKRLA
IALELVNNPPVMFFDEPTSGLDSASCFQVVSLMKSLAQGGRTIICTIHQPSAKLFEMFDKLYILSQGQCIFKGVVTNLIPYLKGLGLHCPTYHNPADFIIEVASG
EYGDLNPMLFRAVQNGLCAMAEKKSSPEKNEVPAPCPPCPPEVDPIESHTFATSTLTQFCILFKRTFLSILRDTVLTHLRFMSHVVIGVLIGLLYLHIGDDASKV
FNNTGCLFFSMLFLMFAALMPTVLTFPLEMAVFMREHLNYWYSLKAYYLAKTMADVPFQVVCPVVYCSIVYWMTGQPAETSRFLLFSALATATALVAQSLGLLIG
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (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 | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.786571 | Down | - | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
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
NGS Other Studies Top
Low Scale Gene Studies Top
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