AutismKB 2.0

Evidence Details for THUMPD1


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Basic Information Top
Gene Symbol:THUMPD1 ( DKFZp686C1054 )
Gene Full Name: THUMP domain containing 1
Band: 16p12.3
Quick LinksEntrez ID:55623; OMIM: NA; Uniprot ID:THUM1_HUMAN; ENSEMBL ID: ENSG00000066654; HGNC ID: 23807
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THUMPD1|55623|nucleotide
ATGGCGGCCCCTGCCCAGCAGACTACTCAGCCTGGCGGCGGGAAGCGCAAAGGCAAGGCTCAGTATGTGCTGGCCAAGCGCGCTCGGCGCTGCGACGCTGGCGGG
CCCCGTCAGCTAGAGCCCGGGCTACAGGGCATCCTCATCACCTGCAATATGAACGAGCGCAAGTGCGTGGAGGAGGCCTACAGCCTCCTCAACGAATACGGCGAC
GACATGTATGGGCCAGAAAAGTTTACAGACAAGGATCAGCAGCCCTCTGGAAGTGAGGGAGAGGATGATGATGCGGAGGCTGCCTTGAAGAAAGAAGTTGGTGAC
ATTAAGGCATCTACAGAGATGAGGTTAAGAAGATTCCAGTCAGTGGAAAGTGGAGCAAATAACGTTGTCTTCATCAGGACACTTGGGATAGAGCCTGAGAAATTG
GTGCATCATATTCTCCAGGATATGTACAAAACCAAGAAAAAGAAGACTCGAGTTATTTTGCGAATGTTACCCATCTCAGGCACATGCAAGGCTTTTTTAGAAGAT
ATGAAAAAATATGCAGAAACATTTTTGGAACCCTGGTTTAAAGCTCCAAACAAAGGGACATTTCAGATTGTGTACAAATCTCGAAATAACAGTCATGTGAATAGA
GAAGAAGTTATCAGAGAATTGGCAGGAATAGTGTGCACCCTCAATTCAGAAAATAAAGTGGATCTCACCAATCCACAGTACACAGTGGTAGTAGAAATCATCAAA
GCTGTCTGTTGCCTGAGTGTTGTGAAAGATTACATGTTGTTTAGAAAATACAATCTCCAGGAGGTGGTGAAGAGCCCTAAGGATCCGTCACAGCTTAACTCAAAG
CAGGGAAATGGGAAAGAAGCTAAACTGGAATCTGCGGACAAATCAGACCAAAACAACACAGCAGAAGGAAAAAATAACCAGCAGGTACCAGAGAATACTGAGGAG
CTGGGGCAGACAAAACCAACGTCTAATCCACAGGTGGTAAATGAGGGAGGAGCCAAACCTGAACTTGCAAGTCAAGCCACAGAAGGATCCAAGTCAAATGAAAAT
GACTTCTCATAG
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>THUMPD1|55623|protein
MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQGILITCNMNERKCVEEAYSLLNEYGDDMYGPEKFTDKDQQPSGSEGEDDDAEAALKKEVGD
IKASTEMRLRRFQSVESGANNVVFIRTLGIEPEKLVHHILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYAETFLEPWFKAPNKGTFQIVYKSRNNSHVNR
EEVIRELAGIVCTLNSENKVDLTNPQYTVVVEIIKAVCCLSVVKDYMLFRKYNLQEVVKSPKDPSQLNSKQGNGKEAKLESADKSDQNNTAEGKNNQQVPENTEE
LGQTKPTSNPQVVNEGGAKPELASQATEGSKSNENDFS

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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top