Evidence Details for XKR6
Basic Information Top
| Gene Symbol: | XKR6 ( C8orf21,C8orf5,C8orf7,FLJ31557,XRG6 ) |
|---|---|
| Gene Full Name: | XK, Kell blood group complex subunit-related family, member 6 |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:286046; OMIM: NA; Uniprot ID:XKR6_HUMAN; ENSEMBL ID: ENSG00000171044; HGNC ID: 27806 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>XKR6|286046|nucleotide
ATGGCGGCGAAATCCGATGGCGGTGGCGTGGGGGTGGGCTTCGCTCAGCTGCACAACCTGGACGAGGCGGTGGGCAGCGGCGGCGAGGAGGACGGGGAGCCCGGG
GGAGGCGGCTGCGGCGGCGGCGGCGACGGCAGCGAGCCCGGCGAGAGCAGCTCGATGCACATCTGCCACTGCTGCAACACCTCCTCGTGCTACTGGGGCTGCCGC
TCCGCCTGCCTGCGCTCCCTCCTGGGCAGGAAGCCGCGCCGCAGCGCCGCCGCCGACGGGGGGGACCAGCCGCTGCAGCCTCCCGCGGCCCCCGGCGCCGGCCGC
CAACCCCCGACGCCCTCGGCCGCGCGGCCGGAGCCGCCGCCGCCGCAGGTGGAGCGGCCGTGGCTCGACTGCCTGTGGATCGTGCTGGCGCTGCTGGTGTTCTTC
GGGGACGTGGGCACCGACCTGTGGCTGGCCCTCGACTACTACCGCAAGGGGGACTACGTCTACTTCGGGCTGACCCTCTTCTTCGTGCTGGTGCCGTCGCTGCTG
GTGCAGAGCCTGAGCTTCCGCTGGTTCGTGCAGGACTACACGGGCGGCGGGCTGGGCGCCGTGGAGGGGCTCACCAGCCGGGGCCCCCCCATGATGGGGGCCGGC
TACGTCCACGGCGCGGCCCGCGGTGGCCCAGGCGTGAGGGTCTCCCCCACGCCGGGGGCGCAGCGCCTGTGTCGCCTCTCCGTGTGGATCTGGCAGTCGGTCATC
CACCTGCTGCAGATGGGGCAGGTGTGGAGGTATATCCGCACCATGTACCTGGGGATTCAGAGCCAGCGGCGGAAGGAACACCAGCGACGCTTCTACTGGGCTATG
ATGTATGAATATGCAGACGTCAACATGCTGCGCCTCCTGGAGACCTTCCTGGAGAGCGCGCCCCAACTGGTGCTACAGCTCTACATCATGCTCCAGAAGAACAGC
GCCGAGACCCTGCCCTGTGTCTCCTCTGTGACTTCCCTGATGTCCCTGGCTTGGGTGCTAGCCTCCTATCACAAGCTGCTGCGGGACTCCAGGGACGACAAGAAG
AGCATGAGCTACAGAGGGGCCATCATCCAGGTCTTCTGGCGCCTCTTCACCATCTCATCCCGAGTGATCTCTTTTGCCCTCTTTGCTTCCATCTTCCAGCTCTAT
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ATGGCGGCGAAATCCGATGGCGGTGGCGTGGGGGTGGGCTTCGCTCAGCTGCACAACCTGGACGAGGCGGTGGGCAGCGGCGGCGAGGAGGACGGGGAGCCCGGG
GGAGGCGGCTGCGGCGGCGGCGGCGACGGCAGCGAGCCCGGCGAGAGCAGCTCGATGCACATCTGCCACTGCTGCAACACCTCCTCGTGCTACTGGGGCTGCCGC
TCCGCCTGCCTGCGCTCCCTCCTGGGCAGGAAGCCGCGCCGCAGCGCCGCCGCCGACGGGGGGGACCAGCCGCTGCAGCCTCCCGCGGCCCCCGGCGCCGGCCGC
CAACCCCCGACGCCCTCGGCCGCGCGGCCGGAGCCGCCGCCGCCGCAGGTGGAGCGGCCGTGGCTCGACTGCCTGTGGATCGTGCTGGCGCTGCTGGTGTTCTTC
GGGGACGTGGGCACCGACCTGTGGCTGGCCCTCGACTACTACCGCAAGGGGGACTACGTCTACTTCGGGCTGACCCTCTTCTTCGTGCTGGTGCCGTCGCTGCTG
GTGCAGAGCCTGAGCTTCCGCTGGTTCGTGCAGGACTACACGGGCGGCGGGCTGGGCGCCGTGGAGGGGCTCACCAGCCGGGGCCCCCCCATGATGGGGGCCGGC
TACGTCCACGGCGCGGCCCGCGGTGGCCCAGGCGTGAGGGTCTCCCCCACGCCGGGGGCGCAGCGCCTGTGTCGCCTCTCCGTGTGGATCTGGCAGTCGGTCATC
CACCTGCTGCAGATGGGGCAGGTGTGGAGGTATATCCGCACCATGTACCTGGGGATTCAGAGCCAGCGGCGGAAGGAACACCAGCGACGCTTCTACTGGGCTATG
ATGTATGAATATGCAGACGTCAACATGCTGCGCCTCCTGGAGACCTTCCTGGAGAGCGCGCCCCAACTGGTGCTACAGCTCTACATCATGCTCCAGAAGAACAGC
GCCGAGACCCTGCCCTGTGTCTCCTCTGTGACTTCCCTGATGTCCCTGGCTTGGGTGCTAGCCTCCTATCACAAGCTGCTGCGGGACTCCAGGGACGACAAGAAG
AGCATGAGCTACAGAGGGGCCATCATCCAGGTCTTCTGGCGCCTCTTCACCATCTCATCCCGAGTGATCTCTTTTGCCCTCTTTGCTTCCATCTTCCAGCTCTAT
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>XKR6|286046|protein
MAAKSDGGGVGVGFAQLHNLDEAVGSGGEEDGEPGGGGCGGGGDGSEPGESSSMHICHCCNTSSCYWGCRSACLRSLLGRKPRRSAAADGGDQPLQPPAAPGAGR
QPPTPSAARPEPPPPQVERPWLDCLWIVLALLVFFGDVGTDLWLALDYYRKGDYVYFGLTLFFVLVPSLLVQSLSFRWFVQDYTGGGLGAVEGLTSRGPPMMGAG
YVHGAARGGPGVRVSPTPGAQRLCRLSVWIWQSVIHLLQMGQVWRYIRTMYLGIQSQRRKEHQRRFYWAMMYEYADVNMLRLLETFLESAPQLVLQLYIMLQKNS
AETLPCVSSVTSLMSLAWVLASYHKLLRDSRDDKKSMSYRGAIIQVFWRLFTISSRVISFALFASIFQLYFGIFVVVHWCAMAFWIIHGGTDFCMSKWEEILFNM
VVGIVYIFCWFNVKEGRTRYRMFAYYTIVLTENAALTFLWYFYRDPETTDSYAVPALCCVFISFVAGIAMMLLYYGVLHPTGPRAKILASSCCAELLWGIPLPPD
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MAAKSDGGGVGVGFAQLHNLDEAVGSGGEEDGEPGGGGCGGGGDGSEPGESSSMHICHCCNTSSCYWGCRSACLRSLLGRKPRRSAAADGGDQPLQPPAAPGAGR
QPPTPSAARPEPPPPQVERPWLDCLWIVLALLVFFGDVGTDLWLALDYYRKGDYVYFGLTLFFVLVPSLLVQSLSFRWFVQDYTGGGLGAVEGLTSRGPPMMGAG
YVHGAARGGPGVRVSPTPGAQRLCRLSVWIWQSVIHLLQMGQVWRYIRTMYLGIQSQRRKEHQRRFYWAMMYEYADVNMLRLLETFLESAPQLVLQLYIMLQKNS
AETLPCVSSVTSLMSLAWVLASYHKLLRDSRDDKKSMSYRGAIIQVFWRLFTISSRVISFALFASIFQLYFGIFVVVHWCAMAFWIIHGGTDFCMSKWEEILFNM
VVGIVYIFCWFNVKEGRTRYRMFAYYTIVLTENAALTFLWYFYRDPETTDSYAVPALCCVFISFVAGIAMMLLYYGVLHPTGPRAKILASSCCAELLWGIPLPPD
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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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow 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.