EFCAB13 (EF-hand calcium binding domain 13) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: EFCAB13 (EF-hand calcium binding domain 13) Homo sapiens
Analyze
Symbol: EFCAB13
Name: EF-hand calcium binding domain 13
RGD ID: 1606737
HGNC Page HGNC:26864
Description: INTERACTS WITH aflatoxin B1; arsenous acid; benzo[a]pyrene
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C17orf57; EF-hand calcium-binding domain-containing protein 13; EF-hand domain-containing protein C17orf57; FLJ36110; FLJ40342; FLJ58126
RGD Orthologs
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381747,323,955 - 47,441,312 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1747,323,290 - 47,441,312 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,401,321 - 45,518,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,756,346 - 42,873,677 (+)NCBINCBI36Build 36hg18NCBI36
Celera1741,851,460 - 41,969,905 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,779,416 - 40,897,272 (+)NCBIHuRef
CHM1_11745,466,280 - 45,583,568 (+)NCBICHM1_1
T2T-CHM13v2.01748,186,334 - 48,303,979 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:18029348   PMID:20686565   PMID:24097068   PMID:25807282   PMID:26940866   PMID:28406212   PMID:31586073   PMID:32461654   PMID:32487729  
PMID:33961781  


Genomics

Comparative Map Data
EFCAB13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381747,323,955 - 47,441,312 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1747,323,290 - 47,441,312 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,401,321 - 45,518,678 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,756,346 - 42,873,677 (+)NCBINCBI36Build 36hg18NCBI36
Celera1741,851,460 - 41,969,905 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,779,416 - 40,897,272 (+)NCBIHuRef
CHM1_11745,466,280 - 45,583,568 (+)NCBICHM1_1
T2T-CHM13v2.01748,186,334 - 48,303,979 (+)NCBIT2T-CHM13v2.0
EFCAB13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21917,603,770 - 17,691,043 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11719,568,094 - 19,656,549 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01710,057,252 - 10,109,963 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11710,272,858 - 10,339,633 (-)NCBIpanpan1.1PanPan1.1panPan2
EFCAB13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.198,985,983 - 9,163,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha911,133,767 - 11,310,342 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0910,577,713 - 10,755,519 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.199,590,106 - 9,767,626 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0917,754,613 - 17,931,041 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0917,703,495 - 17,830,668 (+)NCBIUU_Cfam_GSD_1.0
Efcab13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560216,185,874 - 16,315,183 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365412,879,415 - 3,010,093 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100624995
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,596,550 - 16,674,982 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,595,822 - 16,679,453 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21216,535,030 - 16,710,189 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EFCAB13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11659,230,231 - 59,358,653 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607729,933,380 - 30,069,698 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in EFCAB13
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
NM_001195192.1(EFCAB13):c.774C>T (p.Asp258=) single nucleotide variant Malignant melanoma [RCV000063234] Chr17:47374656 [GRCh38]
Chr17:45452022 [GRCh37]
Chr17:42807021 [NCBI36]
Chr17:17q21.32		 not provided
chr17:45008570..45994044 complex variant complex Breast ductal adenocarcinoma [RCV000207217] Chr17:45008570..45994044 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17q21.32(chr17:45481907-45567563)x1 copy number loss See cases [RCV000446568] Chr17:45481907..45567563 [GRCh37]
Chr17:17q21.32		 benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_152347.5(EFCAB13):c.2768A>T (p.Tyr923Phe) single nucleotide variant not specified [RCV004304569] Chr17:47440560 [GRCh38]
Chr17:45517926 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2039C>T (p.Ala680Val) single nucleotide variant not specified [RCV004327823] Chr17:47403899 [GRCh38]
Chr17:45481265 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.140A>C (p.Glu47Ala) single nucleotide variant not specified [RCV004296508] Chr17:47335305 [GRCh38]
Chr17:45412671 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_001195192.1(EFCAB13):c.309C>T (p.Ile103=) single nucleotide variant Malignant melanoma [RCV000071531] Chr17:47344167 [GRCh38]
Chr17:45421533 [GRCh37]
Chr17:42776532 [NCBI36]
Chr17:17q21.32		 not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32(chr17:45307927-45447839)x1 copy number loss not provided [RCV000683939] Chr17:45307927..45447839 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32(chr17:45419305-45504870)x3 copy number gain not provided [RCV000752138] Chr17:45419305..45504870 [GRCh37]
Chr17:17q21.32		 benign
GRCh37/hg19 17q21.32(chr17:45419305-45517841)x3 copy number gain not provided [RCV000752139] Chr17:45419305..45517841 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.973T>A (p.Leu325Met) single nucleotide variant not specified [RCV004296102] Chr17:47374567 [GRCh38]
Chr17:45451933 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1277C>G (p.Ser426Cys) single nucleotide variant not specified [RCV004291812] Chr17:47374871 [GRCh38]
Chr17:45452237 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1106T>G (p.Phe369Cys) single nucleotide variant not specified [RCV004301362] Chr17:47374700 [GRCh38]
Chr17:45452066 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2165A>G (p.Asp722Gly) single nucleotide variant not specified [RCV004142916] Chr17:47404565 [GRCh38]
Chr17:45481931 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2660A>G (p.Gln887Arg) single nucleotide variant not specified [RCV004227504] Chr17:47440452 [GRCh38]
Chr17:45517818 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2135A>G (p.Lys712Arg) single nucleotide variant not specified [RCV004111029] Chr17:47403995 [GRCh38]
Chr17:45481361 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1996C>T (p.Arg666Cys) single nucleotide variant not specified [RCV004291588] Chr17:47402182 [GRCh38]
Chr17:45479548 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1268G>T (p.Ser423Ile) single nucleotide variant not specified [RCV004294438] Chr17:47374862 [GRCh38]
Chr17:45452228 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17q21.32(chr17:44949883-46507482) copy number gain PNPO-related disorders [RCV003236737] Chr17:44949883..46507482 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_152347.5(EFCAB13):c.1843G>A (p.Glu615Lys) single nucleotide variant not specified [RCV004303475] Chr17:47395875 [GRCh38]
Chr17:45473241 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1521G>A (p.Met507Ile) single nucleotide variant not specified [RCV004322067] Chr17:47379192 [GRCh38]
Chr17:45456558 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.806G>A (p.Ser269Asn) single nucleotide variant not specified [RCV004097613] Chr17:47370437 [GRCh38]
Chr17:45447803 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.57T>G (p.Asp19Glu) single nucleotide variant not specified [RCV004154193] Chr17:47335222 [GRCh38]
Chr17:45412588 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.406C>T (p.Pro136Ser) single nucleotide variant not specified [RCV004223874] Chr17:47344264 [GRCh38]
Chr17:45421630 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1744T>G (p.Phe582Val) single nucleotide variant not specified [RCV004183101] Chr17:47394042 [GRCh38]
Chr17:45471408 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2498C>T (p.Thr833Ile) single nucleotide variant not specified [RCV004151276] Chr17:47429821 [GRCh38]
Chr17:45507187 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1306G>A (p.Val436Ile) single nucleotide variant not specified [RCV004118790] Chr17:47374900 [GRCh38]
Chr17:45452266 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.499C>G (p.His167Asp) single nucleotide variant not specified [RCV004102359] Chr17:47345080 [GRCh38]
Chr17:45422446 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.155C>T (p.Pro52Leu) single nucleotide variant not specified [RCV004232578] Chr17:47335320 [GRCh38]
Chr17:45412686 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1997G>A (p.Arg666His) single nucleotide variant not specified [RCV004188510] Chr17:47402183 [GRCh38]
Chr17:45479549 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.1960C>A (p.Gln654Lys) single nucleotide variant not specified [RCV004125576] Chr17:47402146 [GRCh38]
Chr17:45479512 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1607T>C (p.Ile536Thr) single nucleotide variant not specified [RCV004176405] Chr17:47391461 [GRCh38]
Chr17:45468827 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.715A>G (p.Thr239Ala) single nucleotide variant not specified [RCV004251948] Chr17:47361431 [GRCh38]
Chr17:45438797 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.2738G>T (p.Cys913Phe) single nucleotide variant not specified [RCV004268170] Chr17:47440530 [GRCh38]
Chr17:45517896 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1340C>T (p.Ser447Leu) single nucleotide variant not specified [RCV004256439] Chr17:47374934 [GRCh38]
Chr17:45452300 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1639G>A (p.Glu547Lys) single nucleotide variant not specified [RCV004269279] Chr17:47391493 [GRCh38]
Chr17:45468859 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.907A>G (p.Ile303Val) single nucleotide variant not specified [RCV004354274] Chr17:47374501 [GRCh38]
Chr17:45451867 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1343C>T (p.Ser448Phe) single nucleotide variant not specified [RCV004337545] Chr17:47374937 [GRCh38]
Chr17:45452303 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1945+4_1945+7del deletion EFCAB13-related condition [RCV003939724] Chr17:47395978..47395981 [GRCh38]
Chr17:45473344..45473347 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1530dup (p.Asp511fs) duplication EFCAB13-related condition [RCV003941470] Chr17:47379200..47379201 [GRCh38]
Chr17:45456566..45456567 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.2415C>T (p.Asn805=) single nucleotide variant EFCAB13-related condition [RCV003919555] Chr17:47412909 [GRCh38]
Chr17:45490275 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1947dup (p.Gly650fs) duplication EFCAB13-related condition [RCV003907377] Chr17:47402131..47402132 [GRCh38]
Chr17:45479497..45479498 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.631C>T (p.Arg211Ter) single nucleotide variant EFCAB13-related condition [RCV003974330] Chr17:47347921 [GRCh38]
Chr17:45425287 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.763C>T (p.Arg255Cys) single nucleotide variant EFCAB13-related condition [RCV003958945] Chr17:47361479 [GRCh38]
Chr17:45438845 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.2391C>T (p.Phe797=) single nucleotide variant EFCAB13-related condition [RCV003974778] Chr17:47412885 [GRCh38]
Chr17:45490251 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.98C>T (p.Thr33Ile) single nucleotide variant EFCAB13-related condition [RCV003954519] Chr17:47335263 [GRCh38]
Chr17:45412629 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.525T>C (p.His175=) single nucleotide variant EFCAB13-related condition [RCV003961405] Chr17:47347815 [GRCh38]
Chr17:45425181 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.706C>T (p.Arg236Ter) single nucleotide variant EFCAB13-related condition [RCV003929851] Chr17:47361422 [GRCh38]
Chr17:45438788 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1297A>T (p.Lys433Ter) single nucleotide variant EFCAB13-related condition [RCV003907263] Chr17:47374891 [GRCh38]
Chr17:45452257 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.2904C>T (p.Asn968=) single nucleotide variant EFCAB13-related condition [RCV003916864] Chr17:47440696 [GRCh38]
Chr17:45518062 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1638T>G (p.Tyr546Ter) single nucleotide variant EFCAB13-related condition [RCV003964453] Chr17:47391492 [GRCh38]
Chr17:45468858 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.2682C>T (p.Ser894=) single nucleotide variant EFCAB13-related condition [RCV003904161] Chr17:47440474 [GRCh38]
Chr17:45517840 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1779G>A (p.Thr593=) single nucleotide variant EFCAB13-related condition [RCV003973819] Chr17:47394077 [GRCh38]
Chr17:45471443 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1848G>A (p.Thr616=) single nucleotide variant EFCAB13-related condition [RCV003969336] Chr17:47395880 [GRCh38]
Chr17:45473246 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.339G>A (p.Lys113=) single nucleotide variant EFCAB13-related condition [RCV003931619] Chr17:47344197 [GRCh38]
Chr17:45421563 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1032A>G (p.Gln344=) single nucleotide variant EFCAB13-related condition [RCV003957303] Chr17:47374626 [GRCh38]
Chr17:45451992 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.2792C>T (p.Ser931Leu) single nucleotide variant not specified [RCV004384770] Chr17:47440584 [GRCh38]
Chr17:45517950 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.524A>G (p.His175Arg) single nucleotide variant not specified [RCV004384771] Chr17:47347814 [GRCh38]
Chr17:45425180 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.739G>C (p.Asp247His) single nucleotide variant not specified [RCV004384772] Chr17:47361455 [GRCh38]
Chr17:45438821 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1570C>T (p.Pro524Ser) single nucleotide variant not specified [RCV004328316] Chr17:47379241 [GRCh38]
Chr17:45456607 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.696A>G (p.Ile232Met) single nucleotide variant not specified [RCV004342300] Chr17:47361412 [GRCh38]
Chr17:45438778 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.823A>G (p.Ile275Val) single nucleotide variant not specified [RCV004358537] Chr17:47370454 [GRCh38]
Chr17:45447820 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_152347.5(EFCAB13):c.1802-9A>G single nucleotide variant EFCAB13-related condition [RCV003973857] Chr17:47395825 [GRCh38]
Chr17:45473191 [GRCh37]
Chr17:17q21.32		 likely benign
NM_152347.5(EFCAB13):c.1622A>T (p.Asp541Val) single nucleotide variant EFCAB13-related condition [RCV003984624] Chr17:47391476 [GRCh38]
Chr17:45468842 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1143A>G (p.Gln381=) single nucleotide variant EFCAB13-related condition [RCV003922052] Chr17:47374737 [GRCh38]
Chr17:45452103 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.835A>G (p.Ile279Val) single nucleotide variant EFCAB13-related condition [RCV003979741] Chr17:47370466 [GRCh38]
Chr17:45447832 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.934G>A (p.Val312Ile) single nucleotide variant EFCAB13-related condition [RCV003974415] Chr17:47374528 [GRCh38]
Chr17:45451894 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.806-1G>A single nucleotide variant EFCAB13-related condition [RCV003981311] Chr17:47370436 [GRCh38]
Chr17:45447802 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1651A>G (p.Thr551Ala) single nucleotide variant EFCAB13-related condition [RCV003911373] Chr17:47391505 [GRCh38]
Chr17:45468871 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1831G>A (p.Asp611Asn) single nucleotide variant EFCAB13-related condition [RCV003976383] Chr17:47395863 [GRCh38]
Chr17:45473229 [GRCh37]
Chr17:17q21.32		 benign
NM_152347.5(EFCAB13):c.1346C>T (p.Thr449Met) single nucleotide variant not specified [RCV004384768] Chr17:47374940 [GRCh38]
Chr17:45452306 [GRCh37]
Chr17:17q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1334
Count of miRNA genes:759
Interacting mature miRNAs:858
Transcripts:ENST00000331493, ENST00000517310, ENST00000517484, ENST00000518081, ENST00000518170, ENST00000518646, ENST00000519772, ENST00000520776, ENST00000520802, ENST00000522326, ENST00000523285, ENST00000523842, ENST00000523978
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D17S848E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,454,013 - 45,454,198UniSTSGRCh37
Build 361742,809,012 - 42,809,197RGDNCBI36
Celera1741,904,122 - 41,904,307RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,832,339 - 40,832,524UniSTS
Stanford-G3 RH Map172052.0UniSTS
NCBI RH Map17625.9UniSTS
GeneMap99-G3 RH Map172553.0UniSTS
RH45935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,510,833 - 45,510,970UniSTSGRCh37
Build 361742,865,832 - 42,865,969RGDNCBI36
Celera1741,962,060 - 41,962,197RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,889,426 - 40,889,563UniSTS
GeneMap99-GB4 RH Map17336.16UniSTS
1028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,454,084 - 45,454,195UniSTSGRCh37
Build 361742,809,083 - 42,809,194RGDNCBI36
Celera1741,904,193 - 41,904,304RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,832,410 - 40,832,521UniSTS
GeneMap99-GB4 RH Map17335.85UniSTS
SHGC-110237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,472,954 - 45,473,249UniSTSGRCh37
Build 361742,827,953 - 42,828,248RGDNCBI36
Celera1741,923,068 - 41,923,363RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,851,288 - 40,851,583UniSTS
TNG Radiation Hybrid Map1721967.0UniSTS
WI-17308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,443,727 - 45,443,854UniSTSGRCh37
Build 361742,798,726 - 42,798,853RGDNCBI36
Celera1741,893,836 - 41,893,963RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,822,053 - 40,822,180UniSTS
GeneMap99-GB4 RH Map17332.9UniSTS
Whitehead-RH Map17356.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 9 24 404 71 32 1 23 8 341 406 3 27
Low 2358 1993 1216 536 1124 380 3652 1333 1972 372 1076 1172 170 1 1197 2136 5 2
Below cutoff 67 969 106 88 742 85 671 860 1734 39 42 33 4 4 625 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001195192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001426593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_189741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_189742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC040934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX471329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331493   ⟹   ENSP00000332111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,323,955 - 47,441,312 (+)Ensembl
RefSeq Acc Id: ENST00000517310   ⟹   ENSP00000466136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,323,776 - 47,374,639 (+)Ensembl
RefSeq Acc Id: ENST00000517484   ⟹   ENSP00000430048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,324,025 - 47,430,710 (+)Ensembl
RefSeq Acc Id: ENST00000518081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,329,851 - 47,340,088 (+)Ensembl
RefSeq Acc Id: ENST00000518170   ⟹   ENSP00000467325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,323,290 - 47,328,371 (+)Ensembl
RefSeq Acc Id: ENST00000518646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,328,048 - 47,341,451 (+)Ensembl
RefSeq Acc Id: ENST00000519772   ⟹   ENSP00000430802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,324,025 - 47,335,326 (+)Ensembl
RefSeq Acc Id: ENST00000520776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,326,339 - 47,396,021 (+)Ensembl
RefSeq Acc Id: ENST00000520802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,323,961 - 47,342,027 (+)Ensembl
RefSeq Acc Id: ENST00000522326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,377,654 - 47,394,099 (+)Ensembl
RefSeq Acc Id: ENST00000523285   ⟹   ENSP00000427910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,323,528 - 47,335,276 (+)Ensembl
RefSeq Acc Id: ENST00000523842   ⟹   ENSP00000429566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,377,816 - 47,414,975 (+)Ensembl
RefSeq Acc Id: ENST00000523978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,369,616 - 47,374,638 (+)Ensembl
RefSeq Acc Id: NM_001195192   ⟹   NP_001182121
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,323,955 - 47,430,710 (+)NCBI
GRCh371745,401,327 - 45,518,678 (+)ENTREZGENE
HuRef1740,779,416 - 40,897,272 (+)ENTREZGENE
CHM1_11745,466,280 - 45,572,960 (+)NCBI
T2T-CHM13v2.01748,186,334 - 48,293,365 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152347   ⟹   NP_689560
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,323,955 - 47,441,312 (+)NCBI
GRCh371745,401,327 - 45,518,678 (+)ENTREZGENE
Build 361742,756,346 - 42,873,677 (+)NCBI Archive
Celera1741,851,460 - 41,969,905 (+)RGD
HuRef1740,779,416 - 40,897,272 (+)ENTREZGENE
CHM1_11745,466,280 - 45,583,568 (+)NCBI
T2T-CHM13v2.01748,186,334 - 48,303,979 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_689560   ⟸   NM_152347
- Peptide Label: isoform A
- UniProtKB: G3V128 (UniProtKB/Swiss-Prot),   Q49AG9 (UniProtKB/Swiss-Prot),   Q8IY85 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182121   ⟸   NM_001195192
- Peptide Label: isoform B
- UniProtKB: Q8IY85 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000332111   ⟸   ENST00000331493
RefSeq Acc Id: ENSP00000430048   ⟸   ENST00000517484
RefSeq Acc Id: ENSP00000466136   ⟸   ENST00000517310
RefSeq Acc Id: ENSP00000467325   ⟸   ENST00000518170
RefSeq Acc Id: ENSP00000430802   ⟸   ENST00000519772
RefSeq Acc Id: ENSP00000427910   ⟸   ENST00000523285
RefSeq Acc Id: ENSP00000429566   ⟸   ENST00000523842
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IY85-F1-model_v2 AlphaFold Q8IY85 1-973 view protein structure

Promoters
RGD ID:6793816
Promoter ID:HG_KWN:26446
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000331493,   ENST00000344176,   UC002ILL.1,   UC002ILM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361742,755,989 - 42,756,489 (+)MPROMDB
RGD ID:7235409
Promoter ID:EPDNEW_H23449
Type:initiation region
Name:EFCAB13_1
Description:EF-hand calcium binding domain 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,323,981 - 47,324,041EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26864 AgrOrtholog
COSMIC EFCAB13 COSMIC
Ensembl Genes ENSG00000178852 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331493 ENTREZGENE
  ENST00000331493.7 UniProtKB/Swiss-Prot
  ENST00000517310.5 UniProtKB/TrEMBL
  ENST00000517484 ENTREZGENE
  ENST00000517484.5 UniProtKB/Swiss-Prot
  ENST00000519772.5 UniProtKB/TrEMBL
  ENST00000523285.5 UniProtKB/TrEMBL
  ENST00000523842.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178852 GTEx
HGNC ID HGNC:26864 ENTREZGENE
Human Proteome Map EFCAB13 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124989 UniProtKB/Swiss-Prot
NCBI Gene 124989 ENTREZGENE
PANTHER EF-HAND CALCIUM-BINDING DOMAIN-CONTAINING PROTEIN 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672240 PharmGKB
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFW6_HUMAN UniProtKB/TrEMBL
  E5RI18_HUMAN UniProtKB/TrEMBL
  EFC13_HUMAN UniProtKB/Swiss-Prot
  G3V128 ENTREZGENE
  H0YBI2_HUMAN UniProtKB/TrEMBL
  K7ELL9_HUMAN UniProtKB/TrEMBL
  Q49AG9 ENTREZGENE
  Q8IY85 ENTREZGENE
UniProt Secondary G3V128 UniProtKB/Swiss-Prot
  Q49AG9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-07-24 EFCAB13  EF-hand calcium binding domain 13  C17orf57  chromosome 17 open reading frame 57  Symbol and/or name change 5135510 APPROVED