AutismKB 2.0

Evidence Details for PKD2L1


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Basic Information Top
Gene Symbol:PKD2L1 ( PCL,PKD2L,PKDL,TRPP3 )
Gene Full Name: polycystic kidney disease 2-like 1
Band: 10q24.31
Quick LinksEntrez ID:9033; OMIM: 604532; Uniprot ID:PK2L1_HUMAN; ENSEMBL ID: ENSG00000107593; HGNC ID: 9011
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PKD2L1|9033|nucleotide
ATGAATGCTGTGGGAAGTCCTGAGGGGCAGGAGCTGCAAAAGCTGGGGAGTGGAGCCTGGGACAACCCCGCCTACAGTGGTCCCCCTTCCCCACACGGGACGCTG
AGAGTCTGCACCATCTCCAGCACGGGGCCTCTCCAGCCCCAACCCAAGAAGCCTGAAGATGAACCCCAGGAGACGGCATACAGGACCCAGGTGTCCAGCTGCTGC
CTCCATATCTGTCAAGGCATCAGAGGACTTTGGGGAACAACCCTGACTGAGAACACAGCTGAGAACCGGGAACTTTATATCAAGACCACCCTGAGGGAGCTGTTG
GTATATATTGTGTTCCTGGTGGACATCTGTCTACTGACCTATGGAATGACAAGCTCCAGTGCTTATTACTACACCAAAGTGATGTCTGAGCTCTTCTTACATACT
CCATCAGACACTGGAGTCTCCTTTCAGGCCATCAGCAGCATGGCGGACTTCTGGGATTTTGCCCAGGGCCCACTACTGGACAGTTTGTATTGGACCAAATGGTAC
AACAACCAGAGCCTGGGCCATGGCTCCCACTCCTTCATCTACTATGAGAACATGCTGCTGGGGGTTCCGAGGCTGCGGCAGCTAAAGGTCCGCAATGACTCCTGT
GTGGTGCATGAAGACTTCCGGGAGGACATTCTGAGCTGCTATGATGTCTACTCTCCAGACAAAGAAGAACAACTCCCCTTTGGGCCCTTCAATGGCACAGCGTGG
ACATACCACTCGCAGGATGAGTTGGGGGGCTTCTCCCACTGGGGCAGGCTCACAAGCTACAGCGGAGGTGGCTACTACCTGGACCTTCCAGGATCCCGACAGGGT
AGTGCAGAGGCTCTCCGGGCCCTTCAGGAGGGGCTGTGGCTGGACAGGGGCACTCGAGTGGTGTTCATCGACTTCTCAGTCTACAATGCCAATATCAATCTTTTC
TGTGTCCTGAGGCTGGTGGTGGAGTTTCCAGCTACAGGAGGTGCCATCCCATCCTGGCAAATCCGCACAGTCAAGCTGATCCGCTATGTCAGCAACTGGGACTTC
TTTATCGTTGGCTGTGAGGTCATCTTCTGCGTCTTCATCTTCTACTATGTGGTGGAAGAGATCCTGGAGCTCCACATTCACCGGCTTCGCTACCTCAGCAGCATC
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>PKD2L1|9033|protein
MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQETAYRTQVSSCCLHICQGIRGLWGTTLTENTAENRELYIKTTLRELL
VYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDFAQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRNDSC
VVHEDFREDILSCYDVYSPDKEEQLPFGPFNGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRVVFIDFSVYNANINLF
CVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYVVEEILELHIHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQ
QPNTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFD
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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