AutismKB 2.0

Evidence Details for INTU


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Basic Information Top
Gene Symbol:INTU ( FLJ41326,INT,KIAA1284,PDZD6,PDZK6 )
Gene Full Name: inturned planar cell polarity effector homolog (Drosophila)
Band: 4q28.1
Quick LinksEntrez ID:27152; OMIM: 610621; Uniprot ID:PDZD6_HUMAN; ENSEMBL ID: ENSG00000164066; HGNC ID: 29239
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INTU|27152|nucleotide
ATGGCCTCTGTGGCTTCGTGCGATTCGCGTCCGAGCTCAGACGAGCTCCCTGGAGACCCCTCTTCACAAGAAGAAGATGAGGACTATGATTTTGAAGATCGGGTC
AGCGACTCGGGTTCATATTCCTCAGCGAGTAGCGATTATGATGATCTTGAGCCTGAATGGCTGGACAGTGTGCAGAAAAATGGAGAGCTGTTTTATTTGGAATTG
AGTGAGGATGAAGAAGAAAGCCTCCTTCCTGAGACACCAACTGTGAACCATGTCAGGTTCAGTGAAAATGAGATTATCATTGAAGATGACTACAAAGAAAGAAAA
AAGTATGAACCCAAACTCAAGCAGTTTACCAAAATTTTAAGAAGGAAAAGACTTTTACCCAAGCGCTGCAATAAAAAAAATAGCAATGACAATGGACCAGTATCC
ATTCTAAAGCATCAGTCCAATCAGAAGACAGGAGTCATTGTCCAACAGCGATACAAAGATGTGAATGTTTATGTAAACCCCAAAAAGCTAACTGTTATCAAAGCC
AAAGAGCAGCTCAAGCTTCTGGAAGTGCTGGTTGGAATTATTCATCAGACCAAGTGGAGCTGGAGAAGAACCGGAAAGCAGGGTGATGGAGAGAGGCTTGTGGTT
CATGGCCTGCTGCCAGGGGGATCTGCTATGAAGAGCGGTCAGGTACTCATTGGTGATGTCCTTGTTGCTGTGAATGATGTCGATGTTACTACTGAAAACATCGAG
AGAGTTCTGTCTTGCATTCCTGGACCTATGCAGGTGAAACTGACATTTGAAAATGCATATGATGTGAAAAGGGAGACGTCCCATCCAAGACAGAAAAAGACACAG
TCCAACACAAGTGATTTAGTCAAGCTTCTCTGGGGAGAAGAGGTTGAAGGTATCCAGCAGAGTGGCCTAAACACTCCTCATATCATTATGTATCTCACACTACAG
CTCGACTCAGAAACCTCAAAGGAAGAGCAGGAAATTCTTTATCATTATCCAATGTCTGAAGCATCTCAGAAACTTAAAAGTGTGAGAGGGATTTTTCTCACACTC
TGTGACATGCTGGAAAACGTAACTGGGACACAAGTTACTAGTTCATCCCTCCTTTTAAATGGAAAACAAATTCATGTGGCTTATTGGAAAGAATCTGACAAGTTG
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>INTU|27152|protein
MASVASCDSRPSSDELPGDPSSQEEDEDYDFEDRVSDSGSYSSASSDYDDLEPEWLDSVQKNGELFYLELSEDEEESLLPETPTVNHVRFSENEIIIEDDYKERK
KYEPKLKQFTKILRRKRLLPKRCNKKNSNDNGPVSILKHQSNQKTGVIVQQRYKDVNVYVNPKKLTVIKAKEQLKLLEVLVGIIHQTKWSWRRTGKQGDGERLVV
HGLLPGGSAMKSGQVLIGDVLVAVNDVDVTTENIERVLSCIPGPMQVKLTFENAYDVKRETSHPRQKKTQSNTSDLVKLLWGEEVEGIQQSGLNTPHIIMYLTLQ
LDSETSKEEQEILYHYPMSEASQKLKSVRGIFLTLCDMLENVTGTQVTSSSLLLNGKQIHVAYWKESDKLLLIGLPAEEVPLPRLRNMIENVIQTLKFMYGSLDS
AFCQIENVPRLDHFFNLFFQRALQPAKLHSSASPSAQQYDASSAVLLDNLPGVRWLTLPLEIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLFYKGYL
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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) 1 (1) 0 (0) 1 (1) 0 (3) 0 (0) 0 (0) 0 (0) 3 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top