Evidence Details for EHD2
Basic Information Top
Gene Symbol: | EHD2 ( FLJ96617,PAST2 ) |
---|---|
Gene Full Name: | EH-domain containing 2 |
Band: | 19q13.33 |
Quick Links | Entrez ID:30846; OMIM: 605890; Uniprot ID:EHD2_HUMAN; ENSEMBL ID: ENSG00000024422; HGNC ID: 3243 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>EHD2|30846|nucleotide
ATGTTCAGCTGGCTGAAGCGGGGCGGGGCACGGGGCCAGCAGCCCGAGGCCATCCGCACGGTGACCTCGGCCCTCAAGGAGCTGTACCGCACGAAGCTGCTGCCG
CTGGAGGAGCACTACCGCTTTGGGGCCTTCCACTCGCCGGCCCTGGAGGACGCAGACTTCGACGGCAAGCCCATGGTGCTGGTGGCCGGCCAGTACAGCACGGGC
AAGACCAGCTTCATCCAGTACCTGCTGGAGCAGGAGGTGCCCGGCTCCCGCGTGGGGCCTGAGCCCACCACCGACTGCTTTGTGGCCGTCATGCACGGGGACACT
GAGGGCACCGTGCCCGGCAACGCCCTCGTCGTGGACCCGGACAAGCCCTTCCGCAAACTCAACCCTTTCGGAAACACCTTCCTCAACAGGTTCATGTGTGCCCAG
CTCCCTAATCAGGTCCTGGAGAGCATCAGCATCATCGACACCCCGGGTATCCTGTCGGGTGCCAAGCAGAGAGTGAGCCGCGGCTACGACTTCCCGGCCGTGCTG
CGCTGGTTCGCGGAGCGCGTGGACCTCATCATCCTGCTCTTTGATGCGCACAAGCTGGAGATCTCGGACGAGTTCTCAGAGGCCATCGGCGCGTTGCGGGGCCAT
GAGGACAAGATCCGCGTGGTGCTCAACAAGGCCGACATGGTGGAGACGCAGCAGCTGATGCGCGTCTACGGCGCGCTCATGTGGGCGCTGGGCAAGGTGGTGGGC
ACGCCCGAGGTGCTGCGCGTCTACATCGGCTCCTTCTGGTCCCAGCCCCTCCTCGTGCCCGACAACCGGCGCCTCTTCGAGCTGGAGGAGCAGGACCTCTTCCGC
GACATCCAGGGCCTGCCCCGGCACGCAGCCTTGCGCAAGCTCAACGACCTGGTGAAGAGGGCCCGGCTGGTGCGAGTTCACGCTTACATCATCAGCTACCTGAAG
AAGGAGATGCCCTCTGTGTTTGGGAAGGAGAACAAGAAGAAGCAGCTGATCCTCAAACTGCCCGTCATCTTTGCGAAGATTCAGCTGGAACATCACATCTCCCCT
GGGGACTTTCCTGATTGCCAGAAAATGCAGGAGCTGCTGATGGCGCACGACTTCACCAAGTTTCACTCGCTGAAGCCGAAGCTGCTAGAGGCACTGGACGAGATG
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ATGTTCAGCTGGCTGAAGCGGGGCGGGGCACGGGGCCAGCAGCCCGAGGCCATCCGCACGGTGACCTCGGCCCTCAAGGAGCTGTACCGCACGAAGCTGCTGCCG
CTGGAGGAGCACTACCGCTTTGGGGCCTTCCACTCGCCGGCCCTGGAGGACGCAGACTTCGACGGCAAGCCCATGGTGCTGGTGGCCGGCCAGTACAGCACGGGC
AAGACCAGCTTCATCCAGTACCTGCTGGAGCAGGAGGTGCCCGGCTCCCGCGTGGGGCCTGAGCCCACCACCGACTGCTTTGTGGCCGTCATGCACGGGGACACT
GAGGGCACCGTGCCCGGCAACGCCCTCGTCGTGGACCCGGACAAGCCCTTCCGCAAACTCAACCCTTTCGGAAACACCTTCCTCAACAGGTTCATGTGTGCCCAG
CTCCCTAATCAGGTCCTGGAGAGCATCAGCATCATCGACACCCCGGGTATCCTGTCGGGTGCCAAGCAGAGAGTGAGCCGCGGCTACGACTTCCCGGCCGTGCTG
CGCTGGTTCGCGGAGCGCGTGGACCTCATCATCCTGCTCTTTGATGCGCACAAGCTGGAGATCTCGGACGAGTTCTCAGAGGCCATCGGCGCGTTGCGGGGCCAT
GAGGACAAGATCCGCGTGGTGCTCAACAAGGCCGACATGGTGGAGACGCAGCAGCTGATGCGCGTCTACGGCGCGCTCATGTGGGCGCTGGGCAAGGTGGTGGGC
ACGCCCGAGGTGCTGCGCGTCTACATCGGCTCCTTCTGGTCCCAGCCCCTCCTCGTGCCCGACAACCGGCGCCTCTTCGAGCTGGAGGAGCAGGACCTCTTCCGC
GACATCCAGGGCCTGCCCCGGCACGCAGCCTTGCGCAAGCTCAACGACCTGGTGAAGAGGGCCCGGCTGGTGCGAGTTCACGCTTACATCATCAGCTACCTGAAG
AAGGAGATGCCCTCTGTGTTTGGGAAGGAGAACAAGAAGAAGCAGCTGATCCTCAAACTGCCCGTCATCTTTGCGAAGATTCAGCTGGAACATCACATCTCCCCT
GGGGACTTTCCTGATTGCCAGAAAATGCAGGAGCTGCTGATGGCGCACGACTTCACCAAGTTTCACTCGCTGAAGCCGAAGCTGCTAGAGGCACTGGACGAGATG
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>EHD2|30846|protein
MFSWLKRGGARGQQPEAIRTVTSALKELYRTKLLPLEEHYRFGAFHSPALEDADFDGKPMVLVAGQYSTGKTSFIQYLLEQEVPGSRVGPEPTTDCFVAVMHGDT
EGTVPGNALVVDPDKPFRKLNPFGNTFLNRFMCAQLPNQVLESISIIDTPGILSGAKQRVSRGYDFPAVLRWFAERVDLIILLFDAHKLEISDEFSEAIGALRGH
EDKIRVVLNKADMVETQQLMRVYGALMWALGKVVGTPEVLRVYIGSFWSQPLLVPDNRRLFELEEQDLFRDIQGLPRHAALRKLNDLVKRARLVRVHAYIISYLK
KEMPSVFGKENKKKQLILKLPVIFAKIQLEHHISPGDFPDCQKMQELLMAHDFTKFHSLKPKLLEALDEMLTHDIAKLMPLLRQEELESTEVGVQGGAFEGTHMG
PFVERGPDEAMEDGEEGSDDEAEWVVTKDKSKYDEIFYNLAPADGKLSGSKAKTWMVGTKLPNSVLGRIWKLSDVDRDGMLDDEEFALASHLIEAKLEGHGLPAN
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MFSWLKRGGARGQQPEAIRTVTSALKELYRTKLLPLEEHYRFGAFHSPALEDADFDGKPMVLVAGQYSTGKTSFIQYLLEQEVPGSRVGPEPTTDCFVAVMHGDT
EGTVPGNALVVDPDKPFRKLNPFGNTFLNRFMCAQLPNQVLESISIIDTPGILSGAKQRVSRGYDFPAVLRWFAERVDLIILLFDAHKLEISDEFSEAIGALRGH
EDKIRVVLNKADMVETQQLMRVYGALMWALGKVVGTPEVLRVYIGSFWSQPLLVPDNRRLFELEEQDLFRDIQGLPRHAALRKLNDLVKRARLVRVHAYIISYLK
KEMPSVFGKENKKKQLILKLPVIFAKIQLEHHISPGDFPDCQKMQELLMAHDFTKFHSLKPKLLEALDEMLTHDIAKLMPLLRQEELESTEVGVQGGAFEGTHMG
PFVERGPDEAMEDGEEGSDDEAEWVVTKDKSKYDEIFYNLAPADGKLSGSKAKTWMVGTKLPNSVLGRIWKLSDVDRDGMLDDEEFALASHLIEAKLEGHGLPAN
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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 |
---|---|---|---|---|
O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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