Evidence Details for EHD4
Basic Information Top
| Gene Symbol: | EHD4 ( PAST4 ) |
|---|---|
| Gene Full Name: | EH-domain containing 4 |
| Band: | 15q15.1 |
| Quick Links | Entrez ID:30844; OMIM: 605892; Uniprot ID:EHD4_HUMAN; ENSEMBL ID: ENSG00000103966; HGNC ID: 3245 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EHD4|30844|nucleotide
ATGTTCAGCTGGATGGGGCGGCAGGCGGGCGGGCGCGAACGCGCTGGCGGCGCGGACGCGGTGCAGACGGTGACGGGCGGGCTGCGCTCGCTCTACCTGCGCAAG
GTGCTGCCGCTGGAGGAGGCGTACCGCTTCCACGAGTTCCACTCGCCTGCGCTGGAGGACGCCGACTTCGAGAACAAGCCCATGATCCTGCTGGTGGGCCAGTAC
AGCACCGGCAAGACCACCTTCATCAGATACCTACTGGAGCAGGATTTCCCAGGCATGAGGATTGGTCCGGAGCCCACCACAGACTCCTTCATCGCCGTGATGTAT
GGAGAGACTGAGGGCAGCACCCCAGGGAATGCTTTAGTCGTGGACCCCAAAAAGCCGTTTAGAAAGCTCAGTCGCTTTGGAAACGCTTTCCTGAATCGATTCATG
TGCTCACAGCTCCCCAATCAGGTCCTGAAGAGCATCAGCGTCATCGACAGCCCCGGCATCCTTTCTGGGGAGAAGCAGCGCATCAGCCGAGGCTATGACTTCTGC
CAGGTCCTGCAGTGGTTTGCCGAGAGGGTGGACAGGATCATCCTGCTCTTTGACGCTCACAAGCTGGACATCTCAGATGAATTCTCAGAGGCCATCAAGGCCTTC
CGGGGCCAGGACGACAAGATCCGTGTCGTGCTGAACAAGGCCGACCAAGTGGACACGCAGCAGCTGATGCGGGTCTACGGGGCCCTCATGTGGTCCCTAGGCAAG
GTCATCAACACGCCCGAGGTACTGCGCGTCTACATTGGCTCCTTCTGGGCGCAGCCCCTGCAGAACACGGACAACCGCCGGCTCTTCGAGGCTGAGGCCCAGGAC
CTCTTTAGAGACATCCAGAGCCTCCCCCAGAAGGCAGCGGTGCGCAAGCTCAACGACCTCATCAAGCGAGCGAGGCTGGCCAAGGTGCATGCCTACATCATCAGC
TACCTGAAGAAGGAGATGCCAAGTGTATTTGGAAAGGAAAACAAGAAGAGAGAGCTTATCAGCAGGCTACCGGAAATCTACATTCAGCTACAGCGAGAATACCAG
ATTTCTGCAGGGGACTTCCCTGAGGTCAAGGCTATGCAGGAACAGCTTGAGAACTATGACTTCACCAAATTCCACTCGCTGAAGCCCAAGCTGATCGAGGCAGTG
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ATGTTCAGCTGGATGGGGCGGCAGGCGGGCGGGCGCGAACGCGCTGGCGGCGCGGACGCGGTGCAGACGGTGACGGGCGGGCTGCGCTCGCTCTACCTGCGCAAG
GTGCTGCCGCTGGAGGAGGCGTACCGCTTCCACGAGTTCCACTCGCCTGCGCTGGAGGACGCCGACTTCGAGAACAAGCCCATGATCCTGCTGGTGGGCCAGTAC
AGCACCGGCAAGACCACCTTCATCAGATACCTACTGGAGCAGGATTTCCCAGGCATGAGGATTGGTCCGGAGCCCACCACAGACTCCTTCATCGCCGTGATGTAT
GGAGAGACTGAGGGCAGCACCCCAGGGAATGCTTTAGTCGTGGACCCCAAAAAGCCGTTTAGAAAGCTCAGTCGCTTTGGAAACGCTTTCCTGAATCGATTCATG
TGCTCACAGCTCCCCAATCAGGTCCTGAAGAGCATCAGCGTCATCGACAGCCCCGGCATCCTTTCTGGGGAGAAGCAGCGCATCAGCCGAGGCTATGACTTCTGC
CAGGTCCTGCAGTGGTTTGCCGAGAGGGTGGACAGGATCATCCTGCTCTTTGACGCTCACAAGCTGGACATCTCAGATGAATTCTCAGAGGCCATCAAGGCCTTC
CGGGGCCAGGACGACAAGATCCGTGTCGTGCTGAACAAGGCCGACCAAGTGGACACGCAGCAGCTGATGCGGGTCTACGGGGCCCTCATGTGGTCCCTAGGCAAG
GTCATCAACACGCCCGAGGTACTGCGCGTCTACATTGGCTCCTTCTGGGCGCAGCCCCTGCAGAACACGGACAACCGCCGGCTCTTCGAGGCTGAGGCCCAGGAC
CTCTTTAGAGACATCCAGAGCCTCCCCCAGAAGGCAGCGGTGCGCAAGCTCAACGACCTCATCAAGCGAGCGAGGCTGGCCAAGGTGCATGCCTACATCATCAGC
TACCTGAAGAAGGAGATGCCAAGTGTATTTGGAAAGGAAAACAAGAAGAGAGAGCTTATCAGCAGGCTACCGGAAATCTACATTCAGCTACAGCGAGAATACCAG
ATTTCTGCAGGGGACTTCCCTGAGGTCAAGGCTATGCAGGAACAGCTTGAGAACTATGACTTCACCAAATTCCACTCGCTGAAGCCCAAGCTGATCGAGGCAGTG
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>EHD4|30844|protein
MFSWMGRQAGGRERAGGADAVQTVTGGLRSLYLRKVLPLEEAYRFHEFHSPALEDADFENKPMILLVGQYSTGKTTFIRYLLEQDFPGMRIGPEPTTDSFIAVMY
GETEGSTPGNALVVDPKKPFRKLSRFGNAFLNRFMCSQLPNQVLKSISVIDSPGILSGEKQRISRGYDFCQVLQWFAERVDRIILLFDAHKLDISDEFSEAIKAF
RGQDDKIRVVLNKADQVDTQQLMRVYGALMWSLGKVINTPEVLRVYIGSFWAQPLQNTDNRRLFEAEAQDLFRDIQSLPQKAAVRKLNDLIKRARLAKVHAYIIS
YLKKEMPSVFGKENKKRELISRLPEIYIQLQREYQISAGDFPEVKAMQEQLENYDFTKFHSLKPKLIEAVDNMLSNKISPLMNLISQEETSTPTQLVQGGAFDGT
TEGPFNQGYGEGAKEGADEEEWVVAKDKPVYDELFYTLSPINGKISGVNAKKEMVTSKLPNSVLGKIWKLADCDCDGMLDEEEFALAKHLIKIKLDGYELPSSLP
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MFSWMGRQAGGRERAGGADAVQTVTGGLRSLYLRKVLPLEEAYRFHEFHSPALEDADFENKPMILLVGQYSTGKTTFIRYLLEQDFPGMRIGPEPTTDSFIAVMY
GETEGSTPGNALVVDPKKPFRKLSRFGNAFLNRFMCSQLPNQVLKSISVIDSPGILSGEKQRISRGYDFCQVLQWFAERVDRIILLFDAHKLDISDEFSEAIKAF
RGQDDKIRVVLNKADQVDTQQLMRVYGALMWSLGKVINTPEVLRVYIGSFWAQPLQNTDNRRLFEAEAQDLFRDIQSLPQKAAVRKLNDLIKRARLAKVHAYIIS
YLKKEMPSVFGKENKKRELISRLPEIYIQLQREYQISAGDFPEVKAMQEQLENYDFTKFHSLKPKLIEAVDNMLSNKISPLMNLISQEETSTPTQLVQGGAFDGT
TEGPFNQGYGEGAKEGADEEEWVVAKDKPVYDELFYTLSPINGKISGVNAKKEMVTSKLPNSVLGKIWKLADCDCDGMLDEEEFALAKHLIKIKLDGYELPSSLP
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Evidence summary TopClick 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) | 1 (1) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen |  | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 2
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | | | autism | autism | 12 (25.00%) |
1.576 | Up | 0.0149 | |
| ||||||||||||
| Gregg, 2008_3 | mixed | lymphoblastoid cell lines | 18 (16.67%) | | | autism with regression | autism | 12 (25.00%) |
1.551 | Up | 0.0355 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.