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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. EFHC1, EF-hand domain (C-terminal) containing 1
Sequence ID:NM_018100
NM_001172420
RefSeqGene ID:NG_016760
Entrez Gene ID:114327
Ensembl ID:ENSG00000096093

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
EPILEPSY, JUVENILE ABSENCECLCN2
MYOCLONIC EPILEPSY, JUVENILECACNB4
CLCN2
GABRA1

Cytogenetic Location (from UniGene)

Cytogenetic Location:6p12.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:6: 52285111 - 52357218

 Exon Info From UCSC:
NM_018100
NM_001172420

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4586338Full LengthBC020210EF-hand domain (C-terminal) containing 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001172420 NP_001165891    
NM_018100 NP_060570 Q5JVL4 efhand
DUF1126

Related Sequences

 
mRNAGenPeptSwissProt
BC020210 AAH20210 Q5JVL4
AY608689 AAT67418 Q5JVL4
AY608690 AAT67419 Q5JVL4
DQ892170 ABM83096  
DQ895364 ABM86290  
EU520261 ACB20691 B2CKC5
AK001328 BAA91628 Q5JVL4
AK297632 BAG60005 B4DMU3
AK295064 BAH11960 B7Z2S4

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EFHC1 NP_060570 M.musculus Efhc1 71877 Gene Info NP_082250 85
R.norvegicus Efhc1 301295   NP_001116419 85
A.gambiae AgaP_AGAP003805 1271542   XP_310360 45

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)