AutismKB 2.0

Evidence Details for PRAME


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Basic Information Top
Gene Symbol:PRAME ( CT130,MAPE,OIP4 )
Gene Full Name: preferentially expressed antigen in melanoma
Band: 22q11.22
Quick LinksEntrez ID:23532; OMIM: 606021; Uniprot ID:PRAME_HUMAN; ENSEMBL ID: ENSG00000185686; HGNC ID: 9336
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRAME|23532|nucleotide
ATGGAACGAAGGCGTTTGTGGGGTTCCATTCAGAGCCGATACATCAGCATGAGTGTGTGGACAAGCCCACGGAGACTTGTGGAGCTGGCAGGGCAGAGCCTGCTG
AAGGATGAGGCCCTGGCCATTGCCGCCCTGGAGTTGCTGCCCAGGGAGCTCTTCCCGCCACTCTTCATGGCAGCCTTTGACGGGAGACACAGCCAGACCCTGAAG
GCAATGGTGCAGGCCTGGCCCTTCACCTGCCTCCCTCTGGGAGTGCTGATGAAGGGACAACATCTTCACCTGGAGACCTTCAAAGCTGTGCTTGATGGACTTGAT
GTGCTCCTTGCCCAGGAGGTTCGCCCCAGGAGGTGGAAACTTCAAGTGCTGGATTTACGGAAGAACTCTCATCAGGACTTCTGGACTGTATGGTCTGGAAACAGG
GCCAGTCTGTACTCATTTCCAGAGCCAGAAGCAGCTCAGCCCATGACAAAGAAGCGAAAAGTAGATGGTTTGAGCACAGAGGCAGAGCAGCCCTTCATTCCAGTA
GAGGTGCTCGTAGACCTGTTCCTCAAGGAAGGTGCCTGTGATGAATTGTTCTCCTACCTCATTGAGAAAGTGAAGCGAAAGAAAAATGTACTACGCCTGTGCTGT
AAGAAGCTGAAGATTTTTGCAATGCCCATGCAGGATATCAAGATGATCCTGAAAATGGTGCAGCTGGACTCTATTGAAGATTTGGAAGTGACTTGTACCTGGAAG
CTACCCACCTTGGCGAAATTTTCTCCTTACCTGGGCCAGATGATTAATCTGCGTAGACTCCTCCTCTCCCACATCCATGCATCTTCCTACATTTCCCCGGAGAAG
GAAGAGCAGTATATCGCCCAGTTCACCTCTCAGTTCCTCAGTCTGCAGTGCCTGCAGGCTCTCTATGTGGACTCTTTATTTTTCCTTAGAGGCCGCCTGGATCAG
TTGCTCAGGCACGTGATGAACCCCTTGGAAACCCTCTCAATAACTAACTGCCGGCTTTCGGAAGGGGATGTGATGCATCTGTCCCAGAGTCCCAGCGTCAGTCAG
CTAAGTGTCCTGAGTCTAAGTGGGGTCATGCTGACCGATGTAAGTCCCGAGCCCCTCCAAGCTCTGCTGGAGAGAGCCTCTGCCACCCTCCAGGACCTGGTCTTT
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>PRAME|23532|protein
MERRRLWGSIQSRYISMSVWTSPRRLVELAGQSLLKDEALAIAALELLPRELFPPLFMAAFDGRHSQTLKAMVQAWPFTCLPLGVLMKGQHLHLETFKAVLDGLD
VLLAQEVRPRRWKLQVLDLRKNSHQDFWTVWSGNRASLYSFPEPEAAQPMTKKRKVDGLSTEAEQPFIPVEVLVDLFLKEGACDELFSYLIEKVKRKKNVLRLCC
KKLKIFAMPMQDIKMILKMVQLDSIEDLEVTCTWKLPTLAKFSPYLGQMINLRRLLLSHIHASSYISPEKEEQYIAQFTSQFLSLQCLQALYVDSLFFLRGRLDQ
LLRHVMNPLETLSITNCRLSEGDVMHLSQSPSVSQLSVLSLSGVMLTDVSPEPLQALLERASATLQDLVFDECGITDDQLLALLPSLSHCSQLTTLSFYGNSISI
SALQSLLQHLIGLSNLTHVLYPVPLESYEDIHGTLHLERLAYLHARLRELLCELGRPSMVWLSANPCPHCGDRTFYDPEPILCPCFMPN
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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 (7) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (8)
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
Ramelli, 2008 - FISHASD - - - - 1 - 1
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2011 - aCGHASD - - - - 223 - 223
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top