AutismKB 2.0

Evidence Details for PKHD1L1


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Basic Information Top
Gene Symbol:PKHD1L1 ( DKFZp586C1021,PKHDL1 )
Gene Full Name: polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
Band: 8q23.1-q23.2
Quick LinksEntrez ID:93035; OMIM: 607843; Uniprot ID:PKHL1_HUMAN; ENSEMBL ID: ENSG00000205038; HGNC ID: 20313
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PKHD1L1|93035|nucleotide
ATGGGACACCTGTGGCTCCTGGGTATTTGGGGCCTCTGTGGGCTGCTCCTGTGTGCCGCGGATCCCAGCACAGATGGCTCTCAAATAATCCCCAAAGTCACAGAA
ATAATACCTAAATATGGCAGTATAAATGGAGCAACAAGGCTGACTATAAGAGGGGAAGGTTTTTCTCAAGCAAACCAGTTTAACTATGGAGTTGATAACGCTGAG
TTGGGAAACAGTGTGCAATTAATTTCTTCTTTCCAGTCAATTACTTGTGATGTAGAAAAAGATGCAAGTCATTCAACTCAAATTACATGCTATACTAGAGCAATG
CCGGAAGATTCCTACACTGTTAGAGTCAGTGTGGACGGGGTTCCTGTTACGGAAAATAACACCTGCAAAGGTCACATCAACAGCTGGGAATGTACCTTCAACGCA
AAAAGTTTTAGAACCCCAACAATAAGAAGCATCACACCTTTATCTGGAACTCCAGGTACACTAATAACAATCCAAGGCAGAATCTTCACTGATGTCTATGGAAGT
AATATTGCACTAAGCTCAAATGGGAAAAATGTTAGGATTTTGAGAGTTTACATTGGAGGAATGCCCTGTGAGCTTCTCATACCACAATCTGATAATTTATATGGT
CTAAAACTGGATCATCCAAATGGAGATATGGGTTCTATGGTTTGTAAGACGACTGGAACTTTTATTGGTCATCACAATGTCAGCTTCATCTTAGATAATGATTAT
GGAAGGAGTTTTCCACAGAAAATGGCATATTTTGTTTCTTCTCTCAATAAAATTGCAATGTTTCAAACATATGCAGAGGTCACCATGATTTTCCCTTCACAAGGA
AGCATTCGAGGTGGCACCACGCTGACAATAAGTGGGCGTTTCTTTGATCAGACAGATTTCCCCGTCAGAGTTCTAGTTGGAGGTGAACCTTGTGATATTTTGAAT
GTCACAGAAAATAGTATATGTTGCAAGACACCCCCCAAACCTCATATTCTCAAAACTGTATATCCAGGAGGGAGAGGCCTGAAGCTTGAGGTGTGGAATAATAGC
CGTCCAATACGTTTGGAAGAGATACTGGAATACAATGAAAAAACGCCTGGGTACATGGGTGCCAGTTGGGTAGATTCAGCTTCCTATATTTGGCTCATGGAACAA
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>PKHD1L1|93035|protein
MGHLWLLGIWGLCGLLLCAADPSTDGSQIIPKVTEIIPKYGSINGATRLTIRGEGFSQANQFNYGVDNAELGNSVQLISSFQSITCDVEKDASHSTQITCYTRAM
PEDSYTVRVSVDGVPVTENNTCKGHINSWECTFNAKSFRTPTIRSITPLSGTPGTLITIQGRIFTDVYGSNIALSSNGKNVRILRVYIGGMPCELLIPQSDNLYG
LKLDHPNGDMGSMVCKTTGTFIGHHNVSFILDNDYGRSFPQKMAYFVSSLNKIAMFQTYAEVTMIFPSQGSIRGGTTLTISGRFFDQTDFPVRVLVGGEPCDILN
VTENSICCKTPPKPHILKTVYPGGRGLKLEVWNNSRPIRLEEILEYNEKTPGYMGASWVDSASYIWLMEQDTFVARFSGFLVAPDSDVYRFYIKGDDRYAIYFSQ
TGLPEDKVRIAYHSANANSYFSSPTQRSDDIHLQKGKEYYIEILLQEYRLSAFVDVGLYQYRNVYTEQQTGDAVNEEQVIKSQSTILQEVQVITLENWETTNAIN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top