Evidence Details for XKR5
Basic Information Top
| Gene Symbol: | XKR5 ( HARL2754,UNQ2754,XRG5A,XRG5BM ) |
|---|---|
| Gene Full Name: | XK, Kell blood group complex subunit-related family, member 5 |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:389610; OMIM: NA; Uniprot ID:XKR5_HUMAN; ENSEMBL ID: ENSG00000186530; HGNC ID: 20782 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>XKR5|389610|nucleotide
ATGCACGCGAGGCTCCTGGGGCTCTCGGCCCTGCTGCAGGCGGCCGAGCAGAGCGCGCGCCTTTACACCGTGGCTTACTACTTCACCACAGGACGGCTTCTGTGG
GGGTGGCTGGCCCTTGCTGTCCTCCTGCCCGGGTTCTTGGTCCAGGCCCTGAGCTACCTGTGGTTCCGAGCAGACGGGCATCCAGGGCATTGCTCCTTGATGATG
CTGCACCTCCTACAGCTTGGTGTTTGGAAGCGGCACTGGGACGCTGCACTGACCAGTCTGCAGAAGGAACTGGAGGCTCCCCACCGAGGCTGGCTGCAGCTGCAG
GAGGCCGACCTGTCGGCCCTTCGACTCTTGGAGGCCCTGCTGCAGACTGGGCCCCACCTGCTGCTTCAGACATATGTTTTTCTAGCCTCAGACTTCACAGATATT
GTGCCAGGGGTGAGCACCCTGTTTTCCTGGTCCTCACTCTCCTGGGCACTGGTGTCCTACACTCGCTTCATGGGCTTCATGAAGCCAGGCCACCTGGCCATGCCA
TGGGCCGCCCTCTTCTGCCAGCAGCTCTGGAGGATGGGCATGTTGGGAACCCGCGTGCTGAGTCTGGTTCTGTTCTACAAAGCCTACCACTTTTGGGTTTTTGTG
GTTGCAGGTGCCCACTGGCTGGTGATGACATTCTGGCTTGTCGCCCAGCAGAGTGACATCATCGACAGCACCTGCCACTGGAGGCTGTTCAACCTGCTCGTGGGG
GCCGTGTACATCCTCTGCTACCTCAGCTTCTGGGACAGCCCTTCTAGAAATAGGATGGTCACGTTCTACATGGTCATGCTGTTGGAGAACATCATCCTGTTGCTG
TTGGCCACCGACTTTCTCCAGGGGGCATCGTGGACCAGCCTGCAGACCATAGCTGGGGTCCTGTCTGGATTTCTGATTGGCAGTGTCTCACTGGTAATTTATTAC
AGCCTGCTGCATCCAAAATCCACAGACATCTGGCAGGGCTGCCTAAGGAAGTCCTGTGGCATTGCAGGAGGTGATAAAACAGAGAGAAGAGATTCTCCCCGGGCC
ACAGATCTAGCTGGGAAGAGAACCGAGAGCTCAGGCTCATGCCAAGGGGCAAGTTATGAACCAACCATTTTAGGGAAGCCCCCTACCCCTGAGCAGGTCCCCCCA
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ATGCACGCGAGGCTCCTGGGGCTCTCGGCCCTGCTGCAGGCGGCCGAGCAGAGCGCGCGCCTTTACACCGTGGCTTACTACTTCACCACAGGACGGCTTCTGTGG
GGGTGGCTGGCCCTTGCTGTCCTCCTGCCCGGGTTCTTGGTCCAGGCCCTGAGCTACCTGTGGTTCCGAGCAGACGGGCATCCAGGGCATTGCTCCTTGATGATG
CTGCACCTCCTACAGCTTGGTGTTTGGAAGCGGCACTGGGACGCTGCACTGACCAGTCTGCAGAAGGAACTGGAGGCTCCCCACCGAGGCTGGCTGCAGCTGCAG
GAGGCCGACCTGTCGGCCCTTCGACTCTTGGAGGCCCTGCTGCAGACTGGGCCCCACCTGCTGCTTCAGACATATGTTTTTCTAGCCTCAGACTTCACAGATATT
GTGCCAGGGGTGAGCACCCTGTTTTCCTGGTCCTCACTCTCCTGGGCACTGGTGTCCTACACTCGCTTCATGGGCTTCATGAAGCCAGGCCACCTGGCCATGCCA
TGGGCCGCCCTCTTCTGCCAGCAGCTCTGGAGGATGGGCATGTTGGGAACCCGCGTGCTGAGTCTGGTTCTGTTCTACAAAGCCTACCACTTTTGGGTTTTTGTG
GTTGCAGGTGCCCACTGGCTGGTGATGACATTCTGGCTTGTCGCCCAGCAGAGTGACATCATCGACAGCACCTGCCACTGGAGGCTGTTCAACCTGCTCGTGGGG
GCCGTGTACATCCTCTGCTACCTCAGCTTCTGGGACAGCCCTTCTAGAAATAGGATGGTCACGTTCTACATGGTCATGCTGTTGGAGAACATCATCCTGTTGCTG
TTGGCCACCGACTTTCTCCAGGGGGCATCGTGGACCAGCCTGCAGACCATAGCTGGGGTCCTGTCTGGATTTCTGATTGGCAGTGTCTCACTGGTAATTTATTAC
AGCCTGCTGCATCCAAAATCCACAGACATCTGGCAGGGCTGCCTAAGGAAGTCCTGTGGCATTGCAGGAGGTGATAAAACAGAGAGAAGAGATTCTCCCCGGGCC
ACAGATCTAGCTGGGAAGAGAACCGAGAGCTCAGGCTCATGCCAAGGGGCAAGTTATGAACCAACCATTTTAGGGAAGCCCCCTACCCCTGAGCAGGTCCCCCCA
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>XKR5|389610|protein
MHARLLGLSALLQAAEQSARLYTVAYYFTTGRLLWGWLALAVLLPGFLVQALSYLWFRADGHPGHCSLMMLHLLQLGVWKRHWDAALTSLQKELEAPHRGWLQLQ
EADLSALRLLEALLQTGPHLLLQTYVFLASDFTDIVPGVSTLFSWSSLSWALVSYTRFMGFMKPGHLAMPWAALFCQQLWRMGMLGTRVLSLVLFYKAYHFWVFV
VAGAHWLVMTFWLVAQQSDIIDSTCHWRLFNLLVGAVYILCYLSFWDSPSRNRMVTFYMVMLLENIILLLLATDFLQGASWTSLQTIAGVLSGFLIGSVSLVIYY
SLLHPKSTDIWQGCLRKSCGIAGGDKTERRDSPRATDLAGKRTESSGSCQGASYEPTILGKPPTPEQVPPEAGLGTQVAVEDSFLSHHHWLWVKLALKTGNVSKI
NAAFGDNSPAYCPPAWGLSQQDYLQRKALSAQQELPSSSRDPSTLENSSAFEGVPKAEADPLETSSYVSFASDQQDEAPTQNPAATQGEGTPKEGADAVSGTQGK
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MHARLLGLSALLQAAEQSARLYTVAYYFTTGRLLWGWLALAVLLPGFLVQALSYLWFRADGHPGHCSLMMLHLLQLGVWKRHWDAALTSLQKELEAPHRGWLQLQ
EADLSALRLLEALLQTGPHLLLQTYVFLASDFTDIVPGVSTLFSWSSLSWALVSYTRFMGFMKPGHLAMPWAALFCQQLWRMGMLGTRVLSLVLFYKAYHFWVFV
VAGAHWLVMTFWLVAQQSDIIDSTCHWRLFNLLVGAVYILCYLSFWDSPSRNRMVTFYMVMLLENIILLLLATDFLQGASWTSLQTIAGVLSGFLIGSVSLVIYY
SLLHPKSTDIWQGCLRKSCGIAGGDKTERRDSPRATDLAGKRTESSGSCQGASYEPTILGKPPTPEQVPPEAGLGTQVAVEDSFLSHHHWLWVKLALKTGNVSKI
NAAFGDNSPAYCPPAWGLSQQDYLQRKALSAQQELPSSSRDPSTLENSSAFEGVPKAEADPLETSSYVSFASDQQDEAPTQNPAATQGEGTPKEGADAVSGTQGK
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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) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band | ![]() | ![]() | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |
| Cho, 2009 | Korea | aCGH | ![]() | ![]() | ASD | - | - | - | - | 28 | 62 | 90 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top



