AutismKB 2.0

Evidence Details for XKR3


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Basic Information Top
Gene Symbol:XKR3 ( MGC57211,XRG3,XTES )
Gene Full Name: XK, Kell blood group complex subunit-related family, member 3
Band: 22q11.1
Quick LinksEntrez ID:150165; OMIM: 611674; Uniprot ID:XKR3_HUMAN; ENSEMBL ID: ENSG00000172967; HGNC ID: 28778
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XKR3|150165|nucleotide
ATGGAGACAGTGTTTGAAGAGATGGATGAAGAAAGCACAGGAGGAGTTTCATCTTCGAAAGAAGAAATAGTCCTTGGCCAGAGACTCCATCTAAGCTTTCCTTTT
AGCATTATCTTCTCAACTGTTCTCTACTGTGGTGAGGTTGCCTTTGGTTTATACATGTTTGAAATTTATCGAAAAGCTAATGACACATTCTGGATGTCATTTACC
ATCAGCTTTATTATTGTGGGGGCAATTTTGGATCAAATTATCCTGATGTTTTTCAACAAAGACTTGAGGAGAAATAAGGCTGCATTACTTTTTTGGCACATTCTT
CTTTTAGGACCTATTGTGAGGTGTTTGCACACCATTAGAAATTACCACAAATGGTTGAAAAATCTTAAACAGGAGAAGGAAGAGACTCAAGTTAGCATCACAAAG
AGAAACACGATGCTGGAAAGGGAGATTGCATTCTCAATCCGGGATAATTTCATGCAGCAGAAGGCTTTCAAGTACATGTCAGTGATTCAGGCTTTTCTCGGTTCT
GTTCCACAATTAATTTTGCAGATGTATATCAGTCTCACTATACGAGAATGGCCTTTGAATAGAGCATTGCTGATGACATTTTCCCTGTTATCAGTTACTTATGGG
GCCATTCGCTGCAATATACTGGCCATCCAGATCAGCAATGATGATACTACCATTAAGCTACCGCCGATAGAATTCTTCTGTGTCGTGATGTGGCGTTTTTTGGAG
GTTATCTCACGTGTAGTGACTCTGGCATTTTTCATTGCATCTCTGAAACTGAAGAGCCTACCCGTTTTGTTAATCATATATTTTGTATCATTGTTGGCACCGTGG
CTGGAGTTTTGGAAAAGTGGAGCTCATCTTCCTGGCAACAAAGAAAATAATTCCAATATGGTGGGTACAGTACTGATGCTTTTCTTGATCACACTGCTATATGCT
GCCATCAACTTCTCCTGCTGGTCAGCAGTGAAACTGCAGTTGTCAGATGACAAAATAATTGACGGGAGACAGAGGTGGGGCCATAGAATCCTACACTACAGCTTT
CAGTTTTTAGAAAATGTGATAATGATATTGGTATTTAGGTTCTTTGGAGGGAAAACTTTGCTGAATTGTTGTGACTCATTAATTGCCGTGCAGCTCATCATAAGC
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>XKR3|150165|protein
METVFEEMDEESTGGVSSSKEEIVLGQRLHLSFPFSIIFSTVLYCGEVAFGLYMFEIYRKANDTFWMSFTISFIIVGAILDQIILMFFNKDLRRNKAALLFWHIL
LLGPIVRCLHTIRNYHKWLKNLKQEKEETQVSITKRNTMLEREIAFSIRDNFMQQKAFKYMSVIQAFLGSVPQLILQMYISLTIREWPLNRALLMTFSLLSVTYG
AIRCNILAIQISNDDTTIKLPPIEFFCVVMWRFLEVISRVVTLAFFIASLKLKSLPVLLIIYFVSLLAPWLEFWKSGAHLPGNKENNSNMVGTVLMLFLITLLYA
AINFSCWSAVKLQLSDDKIIDGRQRWGHRILHYSFQFLENVIMILVFRFFGGKTLLNCCDSLIAVQLIISYLLATGFMLLFYQYLYPWQSGKVLPGRTENQPEAP
YYYVNIEKTEKNKNKQLRNYCHSCNRVGYFSIRKSMTCS
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top