AutismKB 2.0

Evidence Details for TPCN1


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Basic Information Top
Gene Symbol:TPCN1 ( FLJ20612,KIAA1169,TPC1 )
Gene Full Name: two pore segment channel 1
Band: 12q24.13
Quick LinksEntrez ID:53373; OMIM: 609666; Uniprot ID:TPC1_HUMAN; ENSEMBL ID: ENSG00000186815; HGNC ID: 18182
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPCN1|53373|nucleotide
ATGGAGTCTTGCTACATTGCCCAGGCTGGTCTTGAACTGCTAGGCTCAAGCAGTTCTCCCACCTTGACCTCCCAAAGCGCTGAGATTACAGAAGATGCCTCTAAT
GGAGGAGTTTCTGAGCAGCACCCCTGGCCCAGTGGCTTTGAAAGGGAGCTCAAACCAGAGACTATTTCAAGCCCTGGATATCATATCCTGAGGGCCACAGGAGAA
GAGAACATGGCTGTGAGTTTGGATGACGACGTGCCGCTCATCCTGACCTTGGATGAGGGTGGCAGTGCCCCACTGGCTCCCTCCAACGGCCTGGGCCAAGAAGAG
CTACCTAGCAAAAATGGCGGCAGCTATGCCATCCACGACTCCCAGGCCCCCAGTCTCAGCTCTGGGGGTGAGAGTTCCCCCTCCAGCCCCGCACACAACTGGGAG
ATGAATTACCAAGAGGCAGCAATCTACCTCCAGGAAGGCGAGAACAACGACAAGTTCTTCACCCACCCCAAGGATGCCAAGGCGCTGGCGGCCTACCTCTTTGCA
CACAATCACCTCTTCTACCTGATGGAGCTGGCCACGGCCCTGCTGCTGCTGCTGCTCTCCCTGTGCGAGGCCCCCGCCGTCCCCGCACTCCGGCTTGGCATCTAT
GTCCACGCCACCCTGGAGCTGTTTGCCCTGATGGTGGTAGTGTTTGAACTCTGCATGAAGTTACGCTGGCTGGGCCTCCACACCTTCATCCGGCACAAGCGGACC
ATGGTCAAGACCTCGGTGCTGGTGGTGCAGTTTGTCGAGGCCATCGTGGTGTTGGTACGGCAGATGTCCCATGTGCGGGTGACCCGAGCACTGCGCTGCATTTTC
CTGGTGGACTGTCGGTATTGCGGTGGCGTCCGGCGCAACCTGCGGCAGATCTTCCAGTCCCTGCCGCCCTTCATGGACATCCTCCTGCTGCTGCTGTTCTTCATG
ATCATCTTTGCCATCCTCGGTTTCTACTTGTTCTCCCCTAACCCTTCAGACCCCTACTTCAGCACCCTGGAGAACAGCATCGTCAGTCTGTTTGTCCTTCTGACC
ACAGCCAATTTCCCAGATGTGATGATGCCCTCCTACTCCCGGAACCCCTGGTCCTGCGTCTTCTTCATCGTGTACCTCTCCATCGAGCTGTATTTCATCATGAAC
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>TPCN1|53373|protein
MESCYIAQAGLELLGSSSSPTLTSQSAEITEDASNGGVSEQHPWPSGFERELKPETISSPGYHILRATGEENMAVSLDDDVPLILTLDEGGSAPLAPSNGLGQEE
LPSKNGGSYAIHDSQAPSLSSGGESSPSSPAHNWEMNYQEAAIYLQEGENNDKFFTHPKDAKALAAYLFAHNHLFYLMELATALLLLLLSLCEAPAVPALRLGIY
VHATLELFALMVVVFELCMKLRWLGLHTFIRHKRTMVKTSVLVVQFVEAIVVLVRQMSHVRVTRALRCIFLVDCRYCGGVRRNLRQIFQSLPPFMDILLLLLFFM
IIFAILGFYLFSPNPSDPYFSTLENSIVSLFVLLTTANFPDVMMPSYSRNPWSCVFFIVYLSIELYFIMNLLLAVVFDTFNDIEKRKFKSLLLHKRTAIQHAYRL
LISQRRPAGISYRQFEGLMRFYKPRMSARERYLTFKALNQNNTPLLSLKDFYDIYEVAALKWKAKKNREHWFDELPRTALLIFKGINILVKSKAFQYFMYLVVAV
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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 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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