AutismKB 2.0

Evidence Details for EHD1


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Basic Information Top
Gene Symbol:EHD1 ( FLJ42622,FLJ44618,H-PAST,HPAST1,PAST,PAST1 )
Gene Full Name: EH-domain containing 1
Band: 11q13.1
Quick LinksEntrez ID:10938; OMIM: 605888; Uniprot ID:EHD1_HUMAN; ENSEMBL ID: ENSG00000110047; HGNC ID: 3242
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EHD1|10938|nucleotide
ATGTTCAGCTGGGTCAGCAAGGATGCCCGCCGCAAGAAGGAGCCGGAGCTCTTCCAGACGGTGGCTGAGGGGCTGCGGCAGCTGTACGCGCAGAAGCTGCTACCC
CTGGAGGAGCACTACCGCTTCCACGAGTTCCACTCGCCCGCGCTGGAGGACGCTGACTTCGACAACAAGCCTATGGTGCTCCTCGTGGGGCAGTACAGCACGGGC
AAGACCACCTTCATCCGACACCTGATCGAGCAGGACTTCCCGGGGATGCGCATCGGGCCCGAGCCCACCACCGACTCCTTCATCGCCGTCATGCACGGCCCCACT
GAGGGCGTGGTGCCGGGCAACGCGCTCGTGGTGGACCCGCGGCGCCCCTTCCGCAAGCTCAACGCGTTTGGCAACGCTTTCCTCAACAGGTTCATGTGTGCCCAG
CTGCCCAACCCCGTCCTGGACAGCATCAGCATCATCGACACCCCCGGGATCCTGTCTGGAGAGAAGCAGCGGATCAGCAGAGGCTATGACTTTGCAGCCGTCCTG
GAGTGGTTCGCGGAGCGTGTGGACCGCATCATCCTGCTCTTCGACGCCCACAAGCTGGACATCTCCGATGAGTTCTCGGAAGTGATCAAGGCTCTGAAGAACCAT
GAGGACAAGATCCGCGTGGTGCTGAACAAGGCAGACCAGATCGAGACGCAGCAGCTGATGCGGGTGTACGGGGCCCTCATGTGGTCCCTGGGCAAGATCATCAAC
ACCCCCGAGGTGGTCAGGGTCTACATCGGCTCCTTCTGGTCCCACCCGCTCCTCATCCCCGACAACCGCAAGCTCTTTGAGGCCGAGGAGCAGGACCTCTTCAAG
GACATCCAGTCACTGCCCCGAAACGCCGCCCTCAGGAAGCTCAATGACCTGATCAAGCGGGCACGGCTGGCCAAGGTTCACGCCTACATCATCAGCTCCCTCAAG
AAAGAGATGCCCAATGTCTTTGGTAAAGAGAGCAAAAAGAAAGAGCTGGTGAACAACCTGGGAGAGATCTACCAGAAGATTGAGCGCGAGCACCAGATCTCCCCT
GGGGACTTCCCGAGCCTCCGCAAGATGCAGGAACTCCTGCAGACCCAGGACTTCAGCAAGTTCCAGGCGCTGAAGCCCAAGCTGCTGGACACGGTGGATGACATG
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>EHD1|10938|protein
MFSWVSKDARRKKEPELFQTVAEGLRQLYAQKLLPLEEHYRFHEFHSPALEDADFDNKPMVLLVGQYSTGKTTFIRHLIEQDFPGMRIGPEPTTDSFIAVMHGPT
EGVVPGNALVVDPRRPFRKLNAFGNAFLNRFMCAQLPNPVLDSISIIDTPGILSGEKQRISRGYDFAAVLEWFAERVDRIILLFDAHKLDISDEFSEVIKALKNH
EDKIRVVLNKADQIETQQLMRVYGALMWSLGKIINTPEVVRVYIGSFWSHPLLIPDNRKLFEAEEQDLFKDIQSLPRNAALRKLNDLIKRARLAKVHAYIISSLK
KEMPNVFGKESKKKELVNNLGEIYQKIEREHQISPGDFPSLRKMQELLQTQDFSKFQALKPKLLDTVDDMLANDIARLMVMVRQEESLMPSQVVKGGAFDGTMNG
PFGHGYGEGAGEGIDDVEWVVGKDKPTYDEIFYTLSPVNGKITGANAKKEMVKSKLPNTVLGKIWKLADVDKDGLLDDEEFALANHLIKVKLEGHELPADLPPHL
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top