Evidence Details for PACS1
Basic Information Top
Gene Symbol: | PACS1 ( FLJ10209,KIAA1175 ) |
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Gene Full Name: | phosphofurin acidic cluster sorting protein 1 |
Band: | 11q13.1-q13.2 |
Quick Links | Entrez ID:55690; OMIM: 607492; Uniprot ID:PACS1_HUMAN; ENSEMBL ID: ENSG00000175115; HGNC ID: 30032 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>PACS1|55690|nucleotide
ATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAG
CAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCG
TCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCC
ACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGCTATTCAGCTTGACCCTGAAGAAACTCGTCATGCTAAAAGAAATGGACAAAGATCTTAACTCA
GTGGTCATCGCTGTGAAGCTGCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTC
TCCCTTCAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACC
TTGGCCGTGGGACTCATCAACATGGCAGAGGTGATGCAGCATCCTAATGAAGGCGCACTGGTGCTTGGCCTACACAGCAACGTGAAGGATGTCTCTGTGCCTGTG
GCAGAAATAAAGATCTACTCCCTGTCCAGCCAACCCATTGACCATGAAGGAATCAAATCCAAGCTTTCTGATCGTTCTCCTGATATTGACAATTATTCTGAGGAA
GAGGAAGAGAGTTTCTCATCAGAACAGGAAGGCAGTGATGATCCATTGCATGGGCAGGACTTGTTCTACGAAGACGAAGATCTCCGGAAAGTGAAGAAGACCCGG
AGGAAACTAACCTCAACCTCTGCCATCACAAGGCAACCTAACATCAAACAGAAGTTTGTGGCCCTCCTGAAGCGGTTTAAAGTTTCAGATGAGGTGGGCTTTGGG
CTGGAGCATGTGTCCCGCGAGCAGATCCGGGAAGTGGAAGAGGACTTGGATGAATTGTATGACAGTCTGGAGATGTACAACCCCAGCGACAGTGGCCCTGAGATG
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ATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAG
CAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCG
TCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCC
ACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGCTATTCAGCTTGACCCTGAAGAAACTCGTCATGCTAAAAGAAATGGACAAAGATCTTAACTCA
GTGGTCATCGCTGTGAAGCTGCAGGGTTCAAAAAGAATTCTTCGCTCCAACGAGATCGTCCTTCCAGCTAGTGGACTGGTGGAAACAGAGCTCCAATTAACCTTC
TCCCTTCAGTACCCTCATTTCCTTAAGCGAGATGCCAACAAGCTGCAGATCATGCTGCAAAGGAGAAAACGTTACAAGAATCGGACCATCTTGGGCTATAAGACC
TTGGCCGTGGGACTCATCAACATGGCAGAGGTGATGCAGCATCCTAATGAAGGCGCACTGGTGCTTGGCCTACACAGCAACGTGAAGGATGTCTCTGTGCCTGTG
GCAGAAATAAAGATCTACTCCCTGTCCAGCCAACCCATTGACCATGAAGGAATCAAATCCAAGCTTTCTGATCGTTCTCCTGATATTGACAATTATTCTGAGGAA
GAGGAAGAGAGTTTCTCATCAGAACAGGAAGGCAGTGATGATCCATTGCATGGGCAGGACTTGTTCTACGAAGACGAAGATCTCCGGAAAGTGAAGAAGACCCGG
AGGAAACTAACCTCAACCTCTGCCATCACAAGGCAACCTAACATCAAACAGAAGTTTGTGGCCCTCCTGAAGCGGTTTAAAGTTTCAGATGAGGTGGGCTTTGGG
CTGGAGCATGTGTCCCGCGAGCAGATCCGGGAAGTGGAAGAGGACTTGGATGAATTGTATGACAGTCTGGAGATGTACAACCCCAGCGACAGTGGCCCTGAGATG
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>PACS1|55690|protein
MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYA
TWEVDRSSSSCVPRLFSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYPHFLKRDANKLQIMLQRRKRYKNRTILGYKT
LAVGLINMAEVMQHPNEGALVLGLHSNVKDVSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQDLFYEDEDLRKVKKTR
RKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIREVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVKTPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSER
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MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYA
TWEVDRSSSSCVPRLFSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYPHFLKRDANKLQIMLQRRKRYKNRTILGYKT
LAVGLINMAEVMQHPNEGALVLGLHSNVKDVSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQDLFYEDEDLRKVKKTR
RKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIREVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVKTPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSER
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) | 0 (0) | 0 (1) | 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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Geisheker MR, 2017 | - | - | 36 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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