AutismKB 2.0

Evidence Details for PDIA4


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Basic Information Top
Gene Symbol:PDIA4 ( ERP70,ERP72,ERp-72 )
Gene Full Name: protein disulfide isomerase family A, member 4
Band: 7q36.1
Quick LinksEntrez ID:9601; OMIM: NA; Uniprot ID:PDIA4_HUMAN; ENSEMBL ID: ENSG00000155660; HGNC ID: 30167
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PDIA4|9601|nucleotide
ATGAGGCCCCGGAAAGCCTTCCTGCTCCTGCTGCTCTTGGGGCTGGTGCAGCTGCTGGCCGTGGCGGGTGCCGAGGGCCCGGACGAGGATTCTTCTAACAGAGAA
AATGCCATTGAGGATGAAGAGGAGGAGGAGGAGGAAGATGATGATGAGGAAGAAGACGACTTGGAAGTTAAGGAAGAAAATGGAGTCTTGGTCCTAAATGATGCA
AACTTTGATAATTTTGTGGCTGACAAAGACACAGTGCTGCTGGAGTTTTATGCTCCATGGTGTGGACATTGCAAGCAGTTTGCTCCGGAATATGAAAAAATTGCC
AACATATTAAAGGATAAAGATCCTCCCATTCCTGTTGCCAAGATCGATGCAACCTCAGCGTCTGTGCTGGCCAGCAGGTTTGATGTGAGTGGCTACCCCACCATC
AAGATCCTTAAGAAGGGGCAGGCTGTAGACTACGAGGGCTCCAGAACCCAGGAAGAAATTGTTGCCAAGGTCAGAGAAGTCTCCCAGCCCGACTGGACGCCTCCA
CCAGAAGTCACGCTTGTGTTGACCAAAGAGAACTTTGATGAAGTTGTGAATGATGCAGATATCATTCTGGTGGAGTTTTATGCCCCATGGTGTGGACACTGCAAG
AAACTTGCCCCCGAGTATGAGAAGGCCGCCAAGGAGCTCAGCAAGCGTTCTCCTCCAATTCCCCTGGCAAAGGTCGACGCCACCGCAGAAACAGACCTGGCCAAG
AGGTTTGATGTCTCTGGCTATCCCACCCTGAAAATTTTCCGCAAAGGAAGGCCTTATGACTACAACGGCCCACGAGAAAAATATGGAATCGTTGATTACATGATC
GAGCAGTCCGGGCCTCCCTCCAAGGAGATTCTGACCCTGAAGCAGGTCCAGGAGTTCCTGAAGGATGGAGACGATGTCATCATCATCGGGGTCTTTAAGGGGGAG
AGTGACCCAGCCTACCAGCAATACCAGGATGCCGCTAACAACCTGAGAGAAGATTACAAATTTCACCACACTTTCAGCACAGAAATAGCAAAGTTCTTGAAAGTC
TCCCAGGGGCAGTTGGTTGTAATGCAGCCTGAGAAATTCCAGTCCAAGTATGAGCCCCGGAGCCACATGATGGACGTCCAGGGCTCCACCCAGGACTCGGCCATC
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>PDIA4|9601|protein
MRPRKAFLLLLLLGLVQLLAVAGAEGPDEDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIA
NILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGE
SDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYS
VDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKG
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top