AutismKB 2.0

Evidence Details for NPC1L1


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Basic Information Top
Gene Symbol:NPC1L1 ( NPC11L1 )
Gene Full Name: NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Band: 7p13
Quick LinksEntrez ID:29881; OMIM: 608010; Uniprot ID:NPCL1_HUMAN; ENSEMBL ID: ENSG00000015520; HGNC ID: 7898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPC1L1|29881|nucleotide
ATGGCGGAGGCCGGCCTGAGGGGCTGGCTGCTGTGGGCCCTGCTCCTGCGCTTGGCCCAGAGTGAGCCTTACACAACCATCCACCAGCCTGGCTACTGCGCCTTC
TATGACGAATGTGGGAAGAACCCAGAGCTGTCTGGAAGCCTCATGACACTCTCCAACGTGTCCTGCCTGTCCAACACGCCGGCCCGCAAGATCACAGGTGATCAC
CTGATCCTATTACAGAAGATCTGCCCCCGCCTCTACACCGGCCCCAACACCCAAGCCTGCTGCTCCGCCAAGCAGCTGGTATCACTGGAAGCGAGTCTGTCGATC
ACCAAGGCCCTCCTCACCCGCTGCCCAGCCTGCTCTGACAATTTTGTGAACCTGCACTGCCACAACACGTGCAGCCCCAATCAGAGCCTCTTCATCAATGTGACC
CGCGTGGCCCAGCTAGGGGCTGGACAACTCCCAGCTGTGGTGGCCTATGAGGCCTTCTACCAGCATAGCTTTGCCGAGCAGAGCTATGACTCCTGCAGCCGTGTG
CGCGTCCCTGCAGCTGCCACGCTGGCTGTGGGCACCATGTGTGGCGTGTATGGCTCTGCCCTTTGCAATGCCCAGCGCTGGCTCAACTTCCAGGGAGACACAGGC
AATGGTCTGGCCCCACTGGACATCACCTTCCACCTCTTGGAGCCTGGCCAGGCCGTGGGGAGTGGGATTCAGCCTCTGAATGAGGGGGTTGCACGTTGCAATGAG
TCCCAAGGTGACGACGTGGCGACCTGCTCCTGCCAAGACTGTGCTGCATCCTGTCCTGCCATAGCCCGCCCCCAGGCCCTCGACTCCACCTTCTACCTGGGCCAG
ATGCCGGGCAGTCTGGTCCTCATCATCATCCTCTGCTCTGTCTTCGCTGTGGTCACCATCCTGCTTGTGGGATTCCGTGTGGCCCCCGCCAGGGACAAAAGCAAG
ATGGTGGACCCCAAGAAGGGCACCAGCCTCTCTGACAAGCTCAGCTTCTCCACCCACACCCTCCTTGGCCAGTTCTTCCAGGGCTGGGGCACGTGGGTGGCTTCG
TGGCCTCTGACCATCTTGGTGCTATCTGTCATCCCGGTGGTGGCCTTGGCAGCGGGCCTGGTCTTTACAGAACTCACTACGGACCCCGTGGAGCTGTGGTCGGCC
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>NPC1L1|29881|protein
MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSI
TKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTG
NGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSK
MVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSY
RYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYC
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top