AutismKB 2.0

Evidence Details for RHAG


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Basic Information Top
Gene Symbol:RHAG ( CD241,RH2,RH50A,Rh50,Rh50GP,SLC42A1 )
Gene Full Name: Rh-associated glycoprotein
Band: 6p12.3
Quick LinksEntrez ID:6005; OMIM: 180297; Uniprot ID:RHAG_HUMAN; ENSEMBL ID: ENSG00000112077; HGNC ID: 10006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RHAG|6005|nucleotide
ATGAGGTTCACATTCCCTCTCATGGCTATAGTCCTGGAAATTGCCATGATTGTTTTATTTGGATTATTTGTTGAGTATGAAACGGACCAGACTGTTCTCGAGCAG
CTCAACATCACCAAGCCAACAGACATGGGCATATTCTTTGAGTTATATCCTCTGTTCCAAGATGTACATGTTATGATATTTGTTGGGTTTGGCTTCCTCATGACC
TTCCTGAAGAAATATGGCTTCAGCAGTGTGGGTATCAACCTACTCGTTGCTGCTTTGGGCCTCCAGTGGGGCACTATTGTACAGGGAATCCTGCAAAGCCAGGGA
CAGAAATTTAACATTGGAATCAAAAACATGATAAATGCAGACTTCAGTGCAGCCACAGTTCTGATATCTTTTGGAGCTGTCCTGGGAAAAACGAGCCCCACCCAA
ATGCTGATCATGACAATTTTAGAAATTGTTTTCTTTGCCCACAATGAATACCTGGTTAGTGAAATATTTAAGGCCTCTGACATTGGAGCATCAATGACGATCCAT
GCCTTTGGGGCCTACTTTGGCTTGGCTGTAGCAGGCATCTTGTATCGATCTGGACTGAGAAAGGGGCATGAAAATGAAGAGTCCGCATACTACTCAGACTTGTTT
GCAATGATTGGGACTCTCTTTCTGTGGATGTTTTGGCCCAGCTTTAACTCGGCCATTGCTGAACCTGGAGACAAACAGTGCAGGGCCATTGTAAACACGTACTTC
TCTCTCGCTGCCTGTGTGCTCACAGCCTTTGCCTTCTCCAGCCTAGTGGAGCACCGAGGCAAGCTCAACATGGTTCACATTCAGAATGCCACCCTTGCTGGAGGA
GTTGCTGTGGGCACTTGTGCGGATATGGCAATTCACCCATTTGGTTCTATGATTATTGGGAGCATTGCAGGAATGGTCTCTGTGCTTGGATACAAGTTCCTGACT
CCACTTTTTACTACTAAACTGAGGATCCATGATACATGTGGGGTCCATAACCTCCACGGCTTACCTGGTGTAGTGGGAGGCCTTGCAGGCATTGTGGCAGTAGCA
ATGGGCGCCTCCAACACGTCTATGGCCATGCAGGCAGCTGCACTGGGTTCCTCTATCGGAACAGCAGTTGTTGGAGGTCTGATGACAGGTTTAATTCTAAAGTTG
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>RHAG|6005|protein
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQG
QKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLF
AMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLT
PLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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 microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top