ENSG00000015171
 Homo sapiens | |
Features See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Q9ULU4 / ZMYND8 / zinc finger MYND-type containing 8 | ENSG00000101040 | 31 | TAF1 / P21675 / TATA-box binding protein associated factor 1 | ENSG00000147133 | 15 | TAF1L / Q8IZX4 / TATA-box binding protein associated factor 1 like | ENSG00000122728 | 14 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome) No match
Phenotype (from MGI, Zfin or HPO)
HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000750 | Impaired language development | |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001999 | Facial dysmorphism | |
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Interacting proteins (from Reactome) No match
1 s.
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