EFCC1 (EF-hand and coiled-coil domain containing 1) - Rat Genome Database

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Gene: EFCC1 (EF-hand and coiled-coil domain containing 1) Homo sapiens
Analyze
Symbol: EFCC1
Name: EF-hand and coiled-coil domain containing 1
RGD ID: 1602687
HGNC Page HGNC:25692
Description: Predicted to enable calcium ion binding activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C3orf73; CCDC48; chromosome 3 open reading frame 73; coiled-coil domain containing 48; coiled-coil domain-containing protein 48; DKFZp686B0148; EF-hand and coiled-coil domain-containing protein 1; EF-hand domain-containing protein ENSP00000381169; FLJ12053; FLJ12057; MGC138400
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh383129,001,304 - 129,040,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,001,304 - 129,040,742 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,720,147 - 128,759,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,231,982 - 130,242,273 (+)NCBINCBI36Build 36hg18NCBI36
Celera3127,152,648 - 127,191,825 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,106,963 - 126,146,067 (+)NCBIHuRef
CHM1_13128,683,912 - 128,723,015 (+)NCBICHM1_1
T2T-CHM13v2.03131,746,185 - 131,785,616 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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:16641997   PMID:21145461   PMID:21873635   PMID:22632162   PMID:35013218  


Genomics

Comparative Map Data
EFCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,001,304 - 129,040,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,001,304 - 129,040,742 (+)EnsemblGRCh38hg38GRCh38
GRCh373128,720,147 - 128,759,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,231,982 - 130,242,273 (+)NCBINCBI36Build 36hg18NCBI36
Celera3127,152,648 - 127,191,825 (+)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,106,963 - 126,146,067 (+)NCBIHuRef
CHM1_13128,683,912 - 128,723,015 (+)NCBICHM1_1
T2T-CHM13v2.03131,746,185 - 131,785,616 (+)NCBIT2T-CHM13v2.0
Efcc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39687,707,577 - 87,739,410 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl687,707,851 - 87,732,890 (+)EnsemblGRCm39 Ensembl
GRCm38687,730,590 - 87,762,428 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl687,730,869 - 87,755,908 (+)EnsemblGRCm38mm10GRCm38
MGSCv37687,680,863 - 87,705,906 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36687,696,510 - 87,699,658 (+)NCBIMGSCv36mm8
Celera689,665,461 - 89,690,504 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.02NCBI
Efcc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84121,745,547 - 121,778,475 (+)NCBIGRCr8
mRatBN7.24120,188,202 - 120,223,464 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4120,188,470 - 120,217,516 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4125,667,362 - 125,694,847 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04121,442,162 - 121,469,647 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04120,066,384 - 120,093,869 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04119,633,214 - 119,663,081 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4119,633,755 - 119,661,004 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04184,885,715 - 184,915,192 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44121,917,925 - 121,945,822 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4109,149,270 - 109,176,624 (+)NCBICelera
Cytogenetic Map4q34NCBI
Efcc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545010,494,407 - 10,523,125 (-)NCBIChiLan1.0ChiLan1.0
EFCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22126,935,767 - 126,975,903 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13126,940,809 - 126,980,630 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03126,060,648 - 126,100,007 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,410,543 - 133,459,445 (+)NCBIpanpan1.1PanPan1.1panPan2
EFCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1203,047,915 - 3,089,138 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl203,049,673 - 3,087,023 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha203,084,631 - 3,126,294 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0203,068,745 - 3,110,418 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1202,788,309 - 2,829,984 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,110,910 - 3,152,578 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0203,075,343 - 3,117,029 (-)NCBIUU_Cfam_GSD_1.0
Efcc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494220,106,653 - 20,126,083 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936798149,027 - 167,705 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936798148,549 - 167,924 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,505,035 - 71,540,592 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,504,832 - 71,538,394 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,102,645 - 79,128,367 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFCC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12252,023,814 - 52,066,719 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2252,023,262 - 52,066,700 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,299,797 - 114,344,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efcc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247817,595,408 - 7,624,733 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247817,589,756 - 7,625,387 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EFCC1
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3 copy number gain See cases [RCV000050795] Chr3:128601065..129182579 [GRCh38]
Chr3:128319908..128901422 [GRCh37]
Chr3:129802598..130384112 [NCBI36]
Chr3:3q21.3		 uncertain significance
NM_024768.2(EFCC1):c.1598C>T (p.Ser533Leu) single nucleotide variant Malignant melanoma [RCV000065830] Chr3:129038838 [GRCh38]
Chr3:128757681 [GRCh37]
Chr3:130240371 [NCBI36]
Chr3:3q21.3		 not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
NM_001377500.1(EFCC1):c.4G>A (p.Glu2Lys) single nucleotide variant not specified [RCV004284811] Chr3:129001632 [GRCh38]
Chr3:128720475 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001377500.1(EFCC1):c.797C>T (p.Ala266Val) single nucleotide variant not specified [RCV004319197] Chr3:129003894 [GRCh38]
Chr3:128722737 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.625A>C (p.Ser209Arg) single nucleotide variant not specified [RCV004292446] Chr3:129002253 [GRCh38]
Chr3:128721096 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 copy number loss not provided [RCV000682304] Chr3:128660985..129811200 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001377500.1(EFCC1):c.920A>G (p.Gln307Arg) single nucleotide variant not specified [RCV004300041] Chr3:129004017 [GRCh38]
Chr3:128722860 [GRCh37]
Chr3:3q21.3		 likely benign
NM_001377500.1(EFCC1):c.268G>A (p.Ala90Thr) single nucleotide variant not specified [RCV004296287] Chr3:129001896 [GRCh38]
Chr3:128720739 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1336G>A (p.Gly446Ser) single nucleotide variant not specified [RCV004285808] Chr3:129034213 [GRCh38]
Chr3:128753056 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.554C>A (p.Pro185Gln) single nucleotide variant not specified [RCV004291638] Chr3:129002182 [GRCh38]
Chr3:128721025 [GRCh37]
Chr3:3q21.3		 uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance|no classifications from unflagged records
NM_001377500.1(EFCC1):c.41G>T (p.Gly14Val) single nucleotide variant not specified [RCV004319604] Chr3:129001669 [GRCh38]
Chr3:128720512 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NM_001377500.1(EFCC1):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV001811751]|not specified [RCV004040890] Chr3:129037053 [GRCh38]
Chr3:128755896 [GRCh37]
Chr3:3q21.3		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_001377500.1(EFCC1):c.403G>A (p.Ala135Thr) single nucleotide variant not specified [RCV004196587] Chr3:129002031 [GRCh38]
Chr3:128720874 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1543G>A (p.Glu515Lys) single nucleotide variant not specified [RCV004104237] Chr3:129037067 [GRCh38]
Chr3:128755910 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.98C>T (p.Ala33Val) single nucleotide variant not specified [RCV004194342] Chr3:129001726 [GRCh38]
Chr3:128720569 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1339G>A (p.Gly447Ser) single nucleotide variant not specified [RCV004087057] Chr3:129034216 [GRCh38]
Chr3:128753059 [GRCh37]
Chr3:3q21.3		 likely benign
NM_001377500.1(EFCC1):c.1763C>T (p.Ala588Val) single nucleotide variant not specified [RCV004137354] Chr3:129039811 [GRCh38]
Chr3:128758654 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.908A>C (p.Glu303Ala) single nucleotide variant not specified [RCV004202951] Chr3:129004005 [GRCh38]
Chr3:128722848 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1769C>T (p.Ala590Val) single nucleotide variant not specified [RCV004086671] Chr3:129039817 [GRCh38]
Chr3:128758660 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1054G>A (p.Asp352Asn) single nucleotide variant not specified [RCV004163790] Chr3:129030776 [GRCh38]
Chr3:128749619 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.908A>G (p.Glu303Gly) single nucleotide variant not specified [RCV004129265] Chr3:129004005 [GRCh38]
Chr3:128722848 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1379G>A (p.Cys460Tyr) single nucleotide variant not specified [RCV004110402] Chr3:129034256 [GRCh38]
Chr3:128753099 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.977A>G (p.Tyr326Cys) single nucleotide variant not specified [RCV004091664] Chr3:129004074 [GRCh38]
Chr3:128722917 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.511G>A (p.Glu171Lys) single nucleotide variant not specified [RCV004070858] Chr3:129002139 [GRCh38]
Chr3:128720982 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1726C>G (p.Leu576Val) single nucleotide variant not specified [RCV004154909] Chr3:129039774 [GRCh38]
Chr3:128758617 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.988G>A (p.Asp330Asn) single nucleotide variant not specified [RCV004116918] Chr3:129030710 [GRCh38]
Chr3:128749553 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.400C>T (p.Arg134Cys) single nucleotide variant not specified [RCV004181291] Chr3:129002028 [GRCh38]
Chr3:128720871 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1238C>T (p.Ala413Val) single nucleotide variant not specified [RCV004073787] Chr3:129032918 [GRCh38]
Chr3:128751761 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1384G>T (p.Ala462Ser) single nucleotide variant not specified [RCV004214737] Chr3:129034261 [GRCh38]
Chr3:128753104 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.896T>A (p.Val299Glu) single nucleotide variant not specified [RCV004145252] Chr3:129003993 [GRCh38]
Chr3:128722836 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1652A>T (p.Asp551Val) single nucleotide variant not specified [RCV004219086] Chr3:129038889 [GRCh38]
Chr3:128757732 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1486C>T (p.His496Tyr) single nucleotide variant not specified [RCV004151986] Chr3:129037010 [GRCh38]
Chr3:128755853 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.89T>G (p.Leu30Arg) single nucleotide variant not specified [RCV004089505] Chr3:129001717 [GRCh38]
Chr3:128720560 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1243G>A (p.Glu415Lys) single nucleotide variant not specified [RCV004226327] Chr3:129032923 [GRCh38]
Chr3:128751766 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1409C>T (p.Thr470Ile) single nucleotide variant not specified [RCV004253170] Chr3:129034286 [GRCh38]
Chr3:128753129 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.52G>C (p.Asp18His) single nucleotide variant not specified [RCV004337230] Chr3:129001680 [GRCh38]
Chr3:128720523 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.401G>C (p.Arg134Pro) single nucleotide variant not specified [RCV004363660] Chr3:129002029 [GRCh38]
Chr3:128720872 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.598G>T (p.Val200Phe) single nucleotide variant not specified [RCV004338724] Chr3:129002226 [GRCh38]
Chr3:128721069 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.939G>C (p.Gln313His) single nucleotide variant not specified [RCV004345010] Chr3:129004036 [GRCh38]
Chr3:128722879 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.952C>A (p.Arg318=) single nucleotide variant not provided [RCV003427350] Chr3:129004049 [GRCh38]
Chr3:128722892 [GRCh37]
Chr3:3q21.3		 likely benign
NM_001377500.1(EFCC1):c.1239A>C (p.Ala413=) single nucleotide variant not provided [RCV003427351] Chr3:129032919 [GRCh38]
Chr3:128751762 [GRCh37]
Chr3:3q21.3		 likely benign
NM_001377500.1(EFCC1):c.1523G>A (p.Arg508Lys) single nucleotide variant not specified [RCV004384870] Chr3:129037047 [GRCh38]
Chr3:128755890 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.239G>A (p.Arg80Gln) single nucleotide variant not specified [RCV004384871] Chr3:129001867 [GRCh38]
Chr3:128720710 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.811G>T (p.Ala271Ser) single nucleotide variant not specified [RCV004384874] Chr3:129003908 [GRCh38]
Chr3:128722751 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1227G>C (p.Lys409Asn) single nucleotide variant not specified [RCV004384867] Chr3:129032907 [GRCh38]
Chr3:128751750 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.43G>T (p.Ala15Ser) single nucleotide variant not specified [RCV004384873] Chr3:129001671 [GRCh38]
Chr3:128720514 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1382T>C (p.Ile461Thr) single nucleotide variant not specified [RCV004384868] Chr3:129034259 [GRCh38]
Chr3:128753102 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.890A>G (p.His297Arg) single nucleotide variant not specified [RCV004384875] Chr3:129003987 [GRCh38]
Chr3:128722830 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.318A>T (p.Arg106Ser) single nucleotide variant not specified [RCV004384872] Chr3:129001946 [GRCh38]
Chr3:128720789 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1118G>A (p.Gly373Glu) single nucleotide variant not specified [RCV004384866] Chr3:129030840 [GRCh38]
Chr3:128749683 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_001377500.1(EFCC1):c.1430C>A (p.Thr477Asn) single nucleotide variant not specified [RCV004384869] Chr3:129034307 [GRCh38]
Chr3:128753150 [GRCh37]
Chr3:3q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1402
Count of miRNA genes:615
Interacting mature miRNAs:709
Transcripts:ENST00000436022, ENST00000480450, ENST00000481536
Prediction methods: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
RH79951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,737,688 - 128,737,935UniSTSGRCh37
Build 363130,220,378 - 130,220,625RGDNCBI36
Celera3127,169,862 - 127,170,109RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,124,223 - 126,124,470UniSTS
GeneMap99-GB4 RH Map3461.75UniSTS
RH99169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,758,782 - 128,758,942UniSTSGRCh37
Build 363130,241,472 - 130,241,632RGDNCBI36
Celera3127,191,022 - 127,191,182RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,145,264 - 126,145,424UniSTS
GeneMap99-GB4 RH Map3458.3UniSTS
RH104377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,733,882 - 128,735,028UniSTSGRCh37
Celera3127,166,058 - 127,167,204UniSTS
Cytogenetic Map3q21.3UniSTS
HuRef3126,120,384 - 126,121,530UniSTS
GeneMap99-GB4 RH Map3458.7UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 842 20 364 219 1 59 374 42 16 294 859 120 8
Low 1529 1927 1223 503 356 341 3860 1735 3204 341 1070 591 164 1 1084 2549 1 1
Below cutoff 46 1013 124 113 828 114 373 56 421 34 46 98 5 226 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001377500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000436022   ⟹   ENSP00000414597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,001,629 - 129,040,742 (+)Ensembl
RefSeq Acc Id: ENST00000481536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,030,449 - 129,040,740 (+)Ensembl
RefSeq Acc Id: ENST00000683648   ⟹   ENSP00000507795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,001,304 - 129,040,742 (+)Ensembl
RefSeq Acc Id: NM_001377500   ⟹   NP_001364429
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,040,742 (+)NCBI
T2T-CHM13v2.03131,746,185 - 131,785,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377501   ⟹   NP_001364430
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,013,289 (+)NCBI
T2T-CHM13v2.03131,746,185 - 131,758,170 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024768   ⟹   NP_079044
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,040,742 (+)NCBI
GRCh373128,720,131 - 128,759,585 (+)NCBI
Build 363130,231,982 - 130,242,273 (+)NCBI Archive
Celera3127,152,648 - 127,191,825 (+)RGD
HuRef3126,106,963 - 126,146,067 (+)RGD
CHM1_13128,683,912 - 128,723,015 (+)NCBI
T2T-CHM13v2.03131,746,185 - 131,785,616 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513161   ⟹   XP_011511463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,003,180 - 129,040,742 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513163   ⟹   XP_011511465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,026,523 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513164   ⟹   XP_011511466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,006,557 - 129,040,742 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047448963   ⟹   XP_047304919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,016,127 (+)NCBI
RefSeq Acc Id: XM_054347915   ⟹   XP_054203890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,748,576 - 131,785,616 (+)NCBI
RefSeq Acc Id: XM_054347916   ⟹   XP_054203891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,748,061 - 131,785,616 (+)NCBI
RefSeq Acc Id: XM_054347917   ⟹   XP_054203892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,746,185 - 131,771,397 (+)NCBI
RefSeq Acc Id: XM_054347918   ⟹   XP_054203893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,751,438 - 131,785,616 (+)NCBI
RefSeq Acc Id: XR_007095727
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,016,127 (+)NCBI
RefSeq Acc Id: XR_008486798
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,746,185 - 131,771,399 (+)NCBI
RefSeq Acc Id: XR_008486799
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03131,746,185 - 131,775,662 (+)NCBI
RefSeq Acc Id: XR_924178
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,001,304 - 129,026,525 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_079044   ⟸   NM_024768
- Peptide Label: isoform 2
- UniProtKB: A8MYE2 (UniProtKB/Swiss-Prot),   Q9HA90 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511465   ⟸   XM_011513163
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011511463   ⟸   XM_011513161
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511466   ⟸   XM_011513164
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001364429   ⟸   NM_001377500
- Peptide Label: isoform 1
- UniProtKB: A0A804HK68 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364430   ⟸   NM_001377501
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000414597   ⟸   ENST00000436022
RefSeq Acc Id: ENSP00000507795   ⟸   ENST00000683648
RefSeq Acc Id: XP_047304919   ⟸   XM_047448963
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203892   ⟸   XM_054347917
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203891   ⟸   XM_054347916
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203890   ⟸   XM_054347915
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203893   ⟸   XM_054347918
- Peptide Label: isoform X4
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HA90-F1-model_v2 AlphaFold Q9HA90 1-598 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25692 AgrOrtholog
COSMIC EFCC1 COSMIC
Ensembl Genes ENSG00000114654 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000436022 ENTREZGENE
  ENST00000436022.2 UniProtKB/Swiss-Prot
  ENST00000683648 ENTREZGENE
  ENST00000683648.1 UniProtKB/TrEMBL
GTEx ENSG00000114654 GTEx
HGNC ID HGNC:25692 ENTREZGENE
Human Proteome Map EFCC1 Human Proteome Map
InterPro CCD48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79825 UniProtKB/Swiss-Prot
NCBI Gene 79825 ENTREZGENE
Pfam CCD48 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672165 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HK68 ENTREZGENE, UniProtKB/TrEMBL
  A8MYE2 ENTREZGENE
  EFCC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MYE2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-09 EFCC1  EF-hand and coiled-coil domain containing 1  C3orf73  chromosome 3 open reading frame 73  Data merged from RGD:2301260 737654 PROVISIONAL
2013-01-16 EFCC1  EF-hand and coiled-coil domain containing 1  CCDC48  coiled-coil domain containing 48  Symbol and/or name change 5135510 APPROVED