AutismKB 2.0

Evidence Details for EHD2


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Basic Information Top
Gene Symbol:EHD2 ( FLJ96617,PAST2 )
Gene Full Name: EH-domain containing 2
Band: 19q13.33
Quick LinksEntrez 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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>EHD2|30846|protein
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