AutismKB 2.0

Evidence Details for PALLD


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Basic Information Top
Gene Symbol:PALLD ( CGI151,FLJ22190,FLJ38193,FLJ39139,FLJ61376,KIAA0992,MYN,PNCA1,SIH002 )
Gene Full Name: palladin, cytoskeletal associated protein
Band: 4q32.3
Quick LinksEntrez ID:23022; OMIM: 608092; Uniprot ID:PALLD_HUMAN; ENSEMBL ID: ENSG00000129116; HGNC ID: 17068
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PALLD|23022|nucleotide
ATGTCAGGGACCTCCTCCCATGAGTCCTTCTATGACTCCCTCTCAGACATGCAGGAAGAAAGCAAGAATACTGACTTCTTCCCGGGCCTTTCTGCTTTCCTCAGC
CAGGAAGAGATAAACAAGAGTCTTGACCTGGCCCGGAGAGCCATAGCCGACTCCGAAACAGAAGATTTTGACTCGGAAAAGGAGATCTCGCAGATTTTCAGTACT
TCTCCTGCAAGCCTCTGTGAACATCCTTCCCATAAGGAGACCAAATTGGGTGAACACGCCTCGAGGAGACCTCAGGATAACAGGTCAACACCTGTCCAGCCTCTG
GCAGAGAAACAAACTAAGAGTATCTCTTCACCTGTTTCAAAGAGGAAACCTGCCATGTCACCCCTGCTCACCAGGCCCAGCTACATCCGGAGCCTCCGAAAGGCT
GAAAAGCGTGGTGCAAAAACTCCCAGCACAAACGTAAAGCCCAAAACGCCACATCAAAGAAAGGGTGGCCCCCAGAGCCAGCTGTGTGACAAGGCAGCTAATTTA
ATTGAGGAGCTAACATCCATATTTAAAGCCGCAAAGCCAAGAAACAGAAGCCCAAATGGGGAGTCCTCGTCACCAGACAGTGGGTACCTGTCTCCTAAAAATCAG
CCGTCAGCCCTGCTGAGTGCCTCAGCCAGCCAGAGCCCTATGGAAGACCAAGGGGAGATGGAAAGAGAGGTCAAGTCCCCTGGGGCCAGGCATTGCTACCAGGAC
AACCAGGACTTGGCAGTGCCACACAACCGCAAGTCTCACCCACAGCCCCACAGCGCCCTCCACTTCCCAGCTGCACCTCGATTCATCCAAAAGCTGAGGAGCCAA
GAAGTAGCAGAAGGGAGCCGAGTTTATCTGGAGTGTAGAGTCACTGGAAACCCCACTCCTCGAGTCAGATGGTTCTGTGAAGGGAAAGAACTGCACAACACTCCT
GATATTCAAATCCACTGTGAGGGAGGGGACCTCCATACCCTGATCATAGCAGAGGCCTTTGAGGACGACACAGGTCGCTACACCTGTTTGGCTACGAATCCCAGC
GGCTCAGACACAACATCTGCTGAGGTGTTCATTGAAGGTGCCAGTTCAACAGATTCTGACAGTGAAAGTTTAGCTTTCAAATCAAGAGCTGGAGCTATGCCACAA
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>PALLD|23022|protein
MSGTSSHESFYDSLSDMQEESKNTDFFPGLSAFLSQEEINKSLDLARRAIADSETEDFDSEKEISQIFSTSPASLCEHPSHKETKLGEHASRRPQDNRSTPVQPL
AEKQTKSISSPVSKRKPAMSPLLTRPSYIRSLRKAEKRGAKTPSTNVKPKTPHQRKGGPQSQLCDKAANLIEELTSIFKAAKPRNRSPNGESSSPDSGYLSPKNQ
PSALLSASASQSPMEDQGEMEREVKSPGARHCYQDNQDLAVPHNRKSHPQPHSALHFPAAPRFIQKLRSQEVAEGSRVYLECRVTGNPTPRVRWFCEGKELHNTP
DIQIHCEGGDLHTLIIAEAFEDDTGRYTCLATNPSGSDTTSAEVFIEGASSTDSDSESLAFKSRAGAMPQAQKKTTSVSLTIGSSSPKTGVTTAVIQPLSVPVQQ
VHSPTSYLCRPDGTTTAYFPPVFTKELQNTAVAEGQVVVLECRVRGAPPLQVQWFRQGSEIQDSPDFRILQKKPRSTAEPEEICTLVIAETFPEDAGIFTCSARN
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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) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Linkage Studies Top