ELP1 Chromosome 9
Elongator acetyltransferase complex subunit 1
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What This Gene Does
The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Elongator acetyltransferase complex
Locus Type
gene with protein product
Location
9q31.3
Ensembl
ENSG00000070061
Associated Conditions (10)
Familial dysautonomia
Hereditary sensory and autonomic neuropathy
ELP1-related disorder
Medulloblastoma
ELP1-Associated Medulloblastoma
Cervical cancer
Charcot-Marie-Tooth disease
Primary dysautonomia
Ovarian serous cystadenocarcinoma
Sarcoma
Key Variants
RS1055164302
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS111936933
Conflicting classifications of pathogenicity
Familial dysautonomia, Hereditary sensory and autonomic neuropathy, ELP1-related disorder
Health Risk
RS113967847
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS117100816
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS1333495798
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS137874743
Conflicting classifications of pathogenicity
Medulloblastoma, Familial dysautonomia, Medulloblastoma
Health Risk
RS138192941
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS138510668
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS139583037
Conflicting classifications of pathogenicity
Familial dysautonomia, Familial dysautonomia
Health Risk
RS139703788
Conflicting classifications of pathogenicity
Hereditary sensory and autonomic neuropathy, Familial dysautonomia, ELP1-Associated Medulloblastoma
Health Risk
RS140024352
Conflicting classifications of pathogenicity
Familial dysautonomia, Medulloblastoma, Familial dysautonomia
Health Risk
RS141596257
Conflicting classifications of pathogenicity
Familial dysautonomia, ELP1-related disorder, Familial dysautonomia
Health Risk
All Variants (319)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2537891053 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537902464 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537902549 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537903051 | Health Risk | Likely pathogenic | — |
| RS2537905523 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537905821 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537912381 | Health Risk | Likely pathogenic | — |
| RS2537912382 | Health Risk | Likely pathogenic | — |
| RS2537912475 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537917447 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537923192 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537923248 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537926622 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537926785 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537926887 | Health Risk | Likely pathogenic | — |
| RS2537939737 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537939987 | Health Risk | Likely pathogenic | — |
| RS2537943670 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537943735 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537943745 | Health Risk | Likely pathogenic | Medulloblastoma, Familial dysautonomia, Medulloblastoma |
| RS2537949763 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537949878 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537958746 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS2537964254 | Health Risk | Likely pathogenic | — |
| RS28939712 | Health Risk | Likely pathogenic | Familial dysautonomia, Charcot-Marie-Tooth disease, Familial dysautonomia |
| RS539544212 | Health Risk | Likely pathogenic | Familial dysautonomia, Medulloblastoma, Familial dysautonomia |
| RS571348995 | Health Risk | Likely pathogenic | Familial dysautonomia, Medulloblastoma, Familial dysautonomia |
| RS749052963 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS749548287 | Health Risk | Likely pathogenic | — |
| RS754348901 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS757972943 | Health Risk | Likely pathogenic | Familial dysautonomia, Medulloblastoma, Familial dysautonomia |
| RS760774999 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS763719304 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS765572951 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS770668926 | Health Risk | Likely pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS111033171 | Health Risk | Pathogenic | Familial dysautonomia, Charcot-Marie-Tooth disease, Medulloblastoma |
| RS1217750168 | Health Risk | Pathogenic | — |
| RS1233980811 | Health Risk | Pathogenic | — |
| RS1271784136 | Health Risk | Pathogenic | — |
| RS1291760879 | Health Risk | Pathogenic | ELP1-related disorder, Medulloblastoma, Medulloblastoma |
| RS1460858565 | Health Risk | Pathogenic | — |
| RS151101843 | Health Risk | Pathogenic | — |
| RS1554703851 | Health Risk | Pathogenic | Familial dysautonomia, Familial dysautonomia |
| RS1564084140 | Health Risk | Pathogenic | — |
| RS1564096502 | Health Risk | Pathogenic | — |
| RS1587895234 | Health Risk | Pathogenic | — |
| RS1587896788 | Health Risk | Pathogenic | — |
| RS1587924452 | Health Risk | Pathogenic | — |
| RS1587924458 | Health Risk | Pathogenic | — |
| RS1827772289 | Health Risk | Pathogenic | — |