AutismKB 2.0

Evidence Details for PSMC1


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Basic Information Top
Gene Symbol:PSMC1 ( MGC24583,MGC8541,P26S4,S4,p56 )
Gene Full Name: proteasome (prosome, macropain) 26S subunit, ATPase, 1
Band: 14q32.11
Quick LinksEntrez ID:5700; OMIM: 602706; Uniprot ID:PRS4_HUMAN; ENSEMBL ID: ENSG00000100764; HGNC ID: 9547
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSMC1|5700|nucleotide
ATGGGTCAAAGTCAGAGTGGTGGTCATGGTCCTGGAGGTGGCAAGAAGGATGACAAGGACAAGAAAAAGAAATATGAACCTCCTGTACCAACTAGAGTGGGGAAA
AAGAAGAAGAAAACAAAGGGACCAGATGCTGCCAGCAAACTGCCACTGGTGACACCTCACACTCAGTGCCGGTTAAAATTACTGAAGTTAGAGAGAATTAAAGAC
TATCTTCTCATGGAGGAAGAATTCATTAGAAATCAGGAACAAATGAAACCATTAGAAGAAAAGCAAGAGGAGGAAAGATCAAAAGTGGATGATCTGAGGGGGACC
CCGATGTCAGTAGGAACCTTGGAAGAGATCATTGATGACAATCATGCCATCGTGTCTACATCTGTGGGCTCAGAACACTACGTCAGCATTCTTTCATTTGTAGAC
AAGGATCTGCTGGAACCTGGCTGCTCGGTCCTGCTCAACCACAAGGTGCATGCCGTGATAGGGGTGCTGATGGATGACACGGATCCCCTGGTCACAGTGATGAAG
GTAGAAAAGGCCCCCCAGGAGACCTATGCAGATATTGGGGGGTTGGACAACCAAATTCAGGAAATTAAGGAATCTGTGGAGCTTCCTCTCACCCATCCTGAATAT
TATGAAGAGATGGGTATAAAGCCTCCTAAGGGGGTCATTCTCTATGGTCCACCTGGCACAGGTAAAACCTTGTTAGCCAAAGCAGTAGCAAACCAAACCTCAGCC
ACTTTCTTGAGAGTGGTTGGCTCTGAACTTATTCAGAAGTACCTAGGTGATGGGCCCAAACTCGTACGGGAATTGTTCCGAGTTGCTGAAGAACATGCACCGTCC
ATCGTGTTTATTGATGAAATTGACGCCATTGGGACAAAAAGATATGACTCCAATTCTGGTGGTGAGAGAGAAATTCAGCGAACAATGTTGGAACTGCTGAACCAG
TTGGATGGATTTGATTCTAGGGGAGATGTGAAAGTTATCATGGCCACAAACCGAATAGAAACTTTGGATCCAGCACTTATCAGACCAGGCCGCATTGACAGGAAG
ATTGAGTTCCCCCTGCCTGATGAAAAGACGAAGAAGCGCATCTTTCAGATTCACACAAGCAGGATGACGCTGGCTGATGATGTAACCCTGGACGACCTGATCATG
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>PSMC1|5700|protein
MGQSQSGGHGPGGGKKDDKDKKKKYEPPVPTRVGKKKKKTKGPDAASKLPLVTPHTQCRLKLLKLERIKDYLLMEEEFIRNQEQMKPLEEKQEEERSKVDDLRGT
PMSVGTLEEIIDDNHAIVSTSVGSEHYVSILSFVDKDLLEPGCSVLLNHKVHAVIGVLMDDTDPLVTVMKVEKAPQETYADIGGLDNQIQEIKESVELPLTHPEY
YEEMGIKPPKGVILYGPPGTGKTLLAKAVANQTSATFLRVVGSELIQKYLGDGPKLVRELFRVAEEHAPSIVFIDEIDAIGTKRYDSNSGGEREIQRTMLELLNQ
LDGFDSRGDVKVIMATNRIETLDPALIRPGRIDRKIEFPLPDEKTKKRIFQIHTSRMTLADDVTLDDLIMAKDDLSGADIKAICTEAGLMALRERRMKVTNEDFK
KSKENVLYKKQEGTPEGLYL
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top