AutismKB 2.0

Evidence Details for ASPSCR1


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Basic Information Top
Gene Symbol:ASPSCR1 ( ASPCR1,ASPL,ASPS,FLJ45380,RCC17,TUG,UBXD9,UBXN9 )
Gene Full Name: alveolar soft part sarcoma chromosome region, candidate 1
Band: 17q25.3
Quick LinksEntrez ID:79058; OMIM: 606236; Uniprot ID:ASPC1_HUMAN; ENSEMBL ID: ENSG00000169696; HGNC ID: 13825
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASPSCR1|79058|nucleotide
ATGGCGGCCCCGGCAGGCGGCGGAGGCTCCGCGGTGTCGGTGCTGGCCCCGAACGGCCGGCGCCACACGGTGAAGGTGACGCCGAGCACCGTGCTGCTTCAGGTT
CTGGAGGACACGTGCCGGCGGCAGGACTTCAACCCCTGTGAATATGATCTGAAGTTTCAGAGGAGCGTGCTCGACCTTTCTCTCCAGTGGAGATTTGCCAACCTG
CCCAACAATGCCAAGCTGGAGATGGTGCCCGCTTCCCGGAGCCGTGAGGGGCCTGAGAACATGGTTCGCATCGCTTTGCAGCTGGACGATGGCTCGAGGTTGCAG
GACTCTTTCTGTTCAGGCCAGACCCTCTGGGAGCTTCTCAGCCATTTTCCACAGATCAGGGAGTGCCTGCAGCACCCCGGCGGGGCCACCCCAGTCTGCGTGTAC
ACGAGGGATGAGGTGACGGGTGAAGCTGCCCTGCGGGGCACGACGCTGCAGTCGCTGGGCCTGACCGGGGGCAGCGCCACCATCAGGTTTGTCATGAAGTGCTAC
GACCCCGTGGGCAAGACCCCAGGAAGCCTGGGCTCGTCAGCGTCGGCTGGCCAGGCAGCCGCCAGCGCTCCACTTCCCTTGGAATCTGGGGAGCTCAGCCGCGGC
GACTTGAGCCGTCCGGAGGACGCGGACACCTCAGGGCCCTGCTGCGAGCACACTCAGGAGAAGCAGAGCACAAGGGCACCCGCAGCTGCCCCCTTTGTTCCTTTC
TCGGGTGGGGGACAGAGACTGGGGGGCCCTCCTGGGCCCACGAGGCCTCTGACATCATCTTCAGCTAAGTTGCCGAAGTCCCTCTCCAGCCCTGGAGGCCCCTCC
AAGCCAAAGAAGTCCAAGTCGGGCCAGGATCCCCAGCAGGAGCAGGAGCAGGAGCGGGAGCGGGATCCCCAGCAGGAGCAGGAGCGGGAGCGGCCCGTGGACCGG
GAGCCCGTGGACCGGGAGCCGGTGGTGTGCCACCCCGACCTGGAGGAGCGGCTGCAGGCCTGGCCAGCGGAGCTGCCTGATGAGTTCTTTGAGCTGACGGTGGAC
GACGTGAGAAGACGCTTGGCCCAGCTCAAGAGTGAGCGGAAGCGCCTGGAAGAAGCCCCCTTGGTGACCAAGGCCTTCAGGGAGGCGCAGATAAAGGAGAAGCTG
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>ASPSCR1|79058|protein
MAAPAGGGGSAVSVLAPNGRRHTVKVTPSTVLLQVLEDTCRRQDFNPCEYDLKFQRSVLDLSLQWRFANLPNNAKLEMVPASRSREGPENMVRIALQLDDGSRLQ
DSFCSGQTLWELLSHFPQIRECLQHPGGATPVCVYTRDEVTGEAALRGTTLQSLGLTGGSATIRFVMKCYDPVGKTPGSLGSSASAGQAAASAPLPLESGELSRG
DLSRPEDADTSGPCCEHTQEKQSTRAPAAAPFVPFSGGGQRLGGPPGPTRPLTSSSAKLPKSLSSPGGPSKPKKSKSGQDPQQEQEQERERDPQQEQERERPVDR
EPVDREPVVCHPDLEERLQAWPAELPDEFFELTVDDVRRRLAQLKSERKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPAPKSEPAAEEGALVPP
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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) 0 (2) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top