REC114 (REC114 meiotic recombination protein) - Rat Genome Database

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Gene: REC114 (REC114 meiotic recombination protein) Homo sapiens
Analyze
Symbol: REC114
Name: REC114 meiotic recombination protein
RGD ID: 2307386
HGNC Page HGNC:25065
Description: Predicted to be involved in meiotic DNA double-strand break formation; oogenesis; and spermatogenesis. Predicted to be located in chromosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C15orf60; CT147; FLJ27520; FLJ36860; FLJ44083; hypothetical protein LOC283677; meiotic recombination protein REC114; meiotic recombination protein REC114-like; OOMD10; OZEMA10; uncharacterized protein C15orf60
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,443,164 - 73,560,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,443,164 - 73,560,013 (+)EnsemblGRCh38hg38GRCh38
GRCh371573,735,505 - 73,852,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361571,522,552 - 71,639,407 (+)NCBINCBI36Build 36hg18NCBI36
Celera1550,614,105 - 50,730,994 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1550,566,841 - 50,683,647 (+)NCBIHuRef
CHM1_11573,853,448 - 73,970,304 (+)NCBICHM1_1
T2T-CHM13v2.01571,260,317 - 71,377,167 (+)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

Biological Process

Cellular Component
chromosome  (IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20551173   PMID:23382691   PMID:28100913   PMID:31704776   PMID:36736316   PMID:38148155  


Genomics

Comparative Map Data
REC114
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,443,164 - 73,560,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,443,164 - 73,560,013 (+)EnsemblGRCh38hg38GRCh38
GRCh371573,735,505 - 73,852,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361571,522,552 - 71,639,407 (+)NCBINCBI36Build 36hg18NCBI36
Celera1550,614,105 - 50,730,994 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1550,566,841 - 50,683,647 (+)NCBIHuRef
CHM1_11573,853,448 - 73,970,304 (+)NCBICHM1_1
T2T-CHM13v2.01571,260,317 - 71,377,167 (+)NCBIT2T-CHM13v2.0
Rec114
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39958,560,139 - 58,729,684 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl958,560,133 - 58,651,247 (-)EnsemblGRCm39 Ensembl
GRCm38958,652,856 - 58,822,706 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,652,850 - 58,743,964 (-)EnsemblGRCm38mm10GRCm38
MGSCv37958,500,663 - 58,589,366 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36958,450,993 - 58,539,694 (-)NCBIMGSCv36mm8
MGSCv36959,191,399 - 59,279,646 (-)NCBIMGSCv36mm8
Celera955,885,715 - 55,975,058 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.79NCBI
Rec114
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8867,959,181 - 68,117,296 (-)NCBIGRCr8
mRatBN7.2859,063,352 - 59,221,439 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl859,063,352 - 59,149,887 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx864,593,489 - 64,680,542 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0862,871,027 - 62,958,083 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0860,735,741 - 60,822,796 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0863,445,644 - 63,533,645 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl863,445,644 - 63,533,546 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0863,215,112 - 63,301,532 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4862,466,082 - 62,555,260 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1862,485,184 - 62,574,260 (-)NCBI
Celera858,522,634 - 58,608,087 (-)NCBICelera
Cytogenetic Map8q24NCBI
Rec114
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554504,002,753 - 4,076,309 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554504,002,734 - 4,076,292 (-)NCBIChiLan1.0ChiLan1.0
REC114
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21662,671,681 - 62,784,477 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11566,836,070 - 66,948,912 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01552,357,979 - 52,470,811 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11571,116,084 - 71,228,098 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1571,116,084 - 71,228,098 (+)Ensemblpanpan1.1panPan2
REC114
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13036,744,066 - 36,846,483 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3036,743,667 - 36,846,474 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3036,680,388 - 36,782,859 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03036,951,785 - 37,053,701 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13036,903,361 - 37,005,927 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03036,929,425 - 37,031,802 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03037,185,272 - 37,288,070 (+)NCBIUU_Cfam_GSD_1.0
Rec114
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640114,722,390 - 114,898,076 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493647132,639,208 - 32,746,136 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
REC114
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,838,480 - 59,941,418 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,833,229 - 59,941,452 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2764,461,651 - 64,624,626 (-)NCBISscrofa10.2Sscrofa10.2susScr3
REC114
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,924,765 - 10,041,255 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl269,925,054 - 10,040,533 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048131,567,269 - 131,687,445 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rec114
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624781818,921 - 902,746 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624781818,542 - 902,484 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in REC114
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001042367.2(REC114):c.397T>G (p.Cys133Gly) single nucleotide variant Oocyte maturation defect 10 [RCV001290411] Chr15:73551001 [GRCh38]
Chr15:73843342 [GRCh37]
Chr15:15q24.1		 pathogenic
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 copy number loss See cases [RCV000050780] Chr15:68830574..73823337 [GRCh38]
Chr15:69122913..74115678 [GRCh37]
Chr15:66909967..71902731 [NCBI36]
Chr15:15q23-24.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1(chr15:72671629-74051557)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|See cases [RCV000052482] Chr15:72671629..74051557 [GRCh38]
Chr15:72963970..74343898 [GRCh37]
Chr15:70751023..72130951 [NCBI36]
Chr15:15q24.1		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2		 likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_001042367.2(REC114):c.59A>T (p.Glu20Val) single nucleotide variant Inborn genetic diseases [RCV003268885] Chr15:73443244 [GRCh38]
Chr15:73735585 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_001042367.2(REC114):c.662C>A (p.Pro221His) single nucleotide variant Inborn genetic diseases [RCV003271342] Chr15:73559777 [GRCh38]
Chr15:73852118 [GRCh37]
Chr15:15q24.1		 uncertain significance
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2		 likely pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_001042367.2(REC114):c.547-3C>T single nucleotide variant REC114-related condition [RCV003916179]|not provided [RCV000965302] Chr15:73556299 [GRCh38]
Chr15:73848640 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_001042367.2(REC114):c.535C>T (p.Arg179Trp) single nucleotide variant Inborn genetic diseases [RCV003241074] Chr15:73551139 [GRCh38]
Chr15:73843480 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001042367.2(REC114):c.442G>A (p.Val148Met) single nucleotide variant REC114-related condition [RCV003926135]|not provided [RCV000960865] Chr15:73551046 [GRCh38]
Chr15:73843387 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1 copy number loss not provided [RCV001259707] Chr15:70268937..74098081 [GRCh37]
Chr15:15q23-24.1		 likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_001042367.2(REC114):c.546+5G>A single nucleotide variant Oocyte maturation defect 10 [RCV001290412] Chr15:73551155 [GRCh38]
Chr15:73843496 [GRCh37]
Chr15:15q24.1		 pathogenic
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NC_000015.9:g.(?_72103084)_(74244178_?)del deletion Tay-Sachs disease [RCV001972852] Chr15:72103084..74244178 [GRCh37]
Chr15:15q23-24.1		 pathogenic
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.95C>T (p.Ser32Leu) single nucleotide variant Inborn genetic diseases [RCV002865050] Chr15:73443280 [GRCh38]
Chr15:73735621 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001042367.2(REC114):c.587C>T (p.Ala196Val) single nucleotide variant Inborn genetic diseases [RCV002974104] Chr15:73556342 [GRCh38]
Chr15:73848683 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.31C>G (p.Leu11Val) single nucleotide variant Inborn genetic diseases [RCV002848618] Chr15:73443216 [GRCh38]
Chr15:73735557 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.580G>T (p.Val194Leu) single nucleotide variant Inborn genetic diseases [RCV002980344] Chr15:73556335 [GRCh38]
Chr15:73848676 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.73C>G (p.Arg25Gly) single nucleotide variant Inborn genetic diseases [RCV002664840] Chr15:73443258 [GRCh38]
Chr15:73735599 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.650C>T (p.Ser217Leu) single nucleotide variant Inborn genetic diseases [RCV003006689] Chr15:73559765 [GRCh38]
Chr15:73852106 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.550C>T (p.His184Tyr) single nucleotide variant Inborn genetic diseases [RCV002668433] Chr15:73556305 [GRCh38]
Chr15:73848646 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_001042367.2(REC114):c.145T>A (p.Cys49Ser) single nucleotide variant Inborn genetic diseases [RCV002718976] Chr15:73443330 [GRCh38]
Chr15:73735671 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001042367.2(REC114):c.173A>G (p.Asn58Ser) single nucleotide variant Inborn genetic diseases [RCV002652948] Chr15:73473845 [GRCh38]
Chr15:73766186 [GRCh37]
Chr15:15q24.1		 likely benign
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_001042367.2(REC114):c.198C>T (p.Leu66=) single nucleotide variant REC114-related condition [RCV003980893]|not provided [RCV003394988] Chr15:73473870 [GRCh38]
Chr15:73766211 [GRCh37]
Chr15:15q24.1		 likely benign
NM_001042367.2(REC114):c.-4G>A single nucleotide variant REC114-related condition [RCV003974627] Chr15:73443182 [GRCh38]
Chr15:73735523 [GRCh37]
Chr15:15q24.1		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:147
Count of miRNA genes:77
Interacting mature miRNAs:77
Transcripts:ENST00000331090, ENST00000560581
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
D15S1086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,852,446 - 73,852,600UniSTSGRCh37
Build 361571,639,499 - 71,639,653RGDNCBI36
Celera1550,731,086 - 50,731,240RGD
Cytogenetic Map15q22UniSTS
HuRef1550,683,739 - 50,683,893UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
Whitehead-RH Map15250.4UniSTS
WI-14402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371573,852,373 - 73,852,522UniSTSGRCh37
Build 361571,639,426 - 71,639,575RGDNCBI36
Celera1550,731,013 - 50,731,162RGD
Cytogenetic Map15q22UniSTS
HuRef1550,683,666 - 50,683,815UniSTS
GeneMap99-GB4 RH Map15252.15UniSTS
Whitehead-RH Map15248.4UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2 36 1 374
Low 19 476 19 9 38 10 42 104 28 9 80 46 2 21
Below cutoff 1537 1472 1092 342 784 199 2502 1309 1861 230 705 1079 148 559 1609 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000331090   ⟹   ENSP00000328423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,443,164 - 73,560,013 (+)Ensembl
RefSeq Acc Id: ENST00000560581   ⟹   ENSP00000452908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,443,164 - 73,560,010 (+)Ensembl
RefSeq Acc Id: NM_001042367   ⟹   NP_001035826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,443,164 - 73,560,013 (+)NCBI
GRCh371573,735,499 - 73,852,354 (+)RGD
Build 361571,522,552 - 71,639,407 (+)NCBI Archive
Celera1550,614,105 - 50,730,994 (+)RGD
HuRef1550,566,841 - 50,683,647 (+)ENTREZGENE
CHM1_11573,853,448 - 73,970,304 (+)NCBI
T2T-CHM13v2.01571,260,317 - 71,377,167 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001348772   ⟹   NP_001335701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,443,164 - 73,560,013 (+)NCBI
T2T-CHM13v2.01571,260,317 - 71,377,167 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035826 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335701 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH55412 (Get FASTA)   NCBI Sequence Viewer  
  EAW77927 (Get FASTA)   NCBI Sequence Viewer  
  EAW77929 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000328423
  ENSP00000328423.6
  ENSP00000452908
  ENSP00000452908.1
GenBank Protein Q7Z4M0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001035826   ⟸   NM_001042367
- Peptide Label: isoform 1
- UniProtKB: Q7Z4M0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335701   ⟸   NM_001348772
- Peptide Label: isoform 2
- UniProtKB: H0YKR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000328423   ⟸   ENST00000331090
RefSeq Acc Id: ENSP00000452908   ⟸   ENST00000560581

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z4M0-F1-model_v2 AlphaFold Q7Z4M0 1-266 view protein structure

Promoters
RGD ID:7230031
Promoter ID:EPDNEW_H20762
Type:initiation region
Name:C15orf60_1
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
GRCh381573,443,164 - 73,443,224EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25065 AgrOrtholog
COSMIC REC114 COSMIC
Ensembl Genes ENSG00000183324 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331090 ENTREZGENE
  ENST00000331090.11 UniProtKB/Swiss-Prot
  ENST00000560581 ENTREZGENE
  ENST00000560581.1 UniProtKB/TrEMBL
GTEx ENSG00000183324 GTEx
HGNC ID HGNC:25065 ENTREZGENE
Human Proteome Map REC114 Human Proteome Map
InterPro REC114L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:283677 UniProtKB/Swiss-Prot
NCBI Gene 283677 ENTREZGENE
OMIM 618421 OMIM
PANTHER MEIOTIC RECOMBINATION PROTEIN REC114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR34921 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam REC114-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162378269 PharmGKB
UniProt H0YKR2 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z4M0 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-05-21 REC114  REC114 meiotic recombination protein  C15orf60  chromosome 15 open reading frame 60  Symbol and/or name change 5135510 APPROVED