C1orf50 (chromosome 1 open reading frame 50) - Rat Genome Database

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Gene: C1orf50 (chromosome 1 open reading frame 50) Homo sapiens
Analyze
Symbol: C1orf50
Name: chromosome 1 open reading frame 50
RGD ID: 1350429
HGNC Page HGNC:28795
Description: Enables identical protein binding activity.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC098484.3; hypothetical protein LOC79078; MGC955; novel protein; uncharacterized protein C1orf50
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
GRCh38142,767,249 - 42,779,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl142,767,245 - 42,779,491 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,232,920 - 43,245,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,005,527 - 43,013,998 (+)NCBINCBI36Build 36hg18NCBI36
Build 34142,902,032 - 42,910,503NCBI
Celera141,514,848 - 41,523,350 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,352,899 - 41,361,394 (+)NCBIHuRef
CHM1_1143,349,721 - 43,358,217 (+)NCBICHM1_1
T2T-CHM13v2.0142,637,739 - 42,649,982 (+)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

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:15146197   PMID:15489334   PMID:16344560   PMID:21516116   PMID:21873635   PMID:25416956   PMID:25910212   PMID:26186194   PMID:27107012   PMID:27107014   PMID:28514442  
PMID:31515488   PMID:31753913   PMID:32296183   PMID:32353859   PMID:33060197   PMID:33961781   PMID:34687317   PMID:34732716   PMID:35271311   PMID:35748872  


Genomics

Comparative Map Data
C1orf50
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38142,767,249 - 42,779,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl142,767,245 - 42,779,491 (+)EnsemblGRCh38hg38GRCh38
GRCh37143,232,920 - 43,245,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36143,005,527 - 43,013,998 (+)NCBINCBI36Build 36hg18NCBI36
Build 34142,902,032 - 42,910,503NCBI
Celera141,514,848 - 41,523,350 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef141,352,899 - 41,361,394 (+)NCBIHuRef
CHM1_1143,349,721 - 43,358,217 (+)NCBICHM1_1
T2T-CHM13v2.0142,637,739 - 42,649,982 (+)NCBIT2T-CHM13v2.0
AU022252
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394119,077,039 - 119,089,884 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4119,060,767 - 119,089,909 (-)EnsemblGRCm39 Ensembl
GRCm384119,222,882 - 119,232,885 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4119,203,570 - 119,232,712 (-)EnsemblGRCm38mm10GRCm38
MGSCv374118,897,743 - 118,905,329 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364118,724,140 - 118,730,638 (-)NCBIMGSCv36mm8
Celera4117,952,879 - 117,960,464 (-)NCBICelera
Cytogenetic Map4D2.1NCBI
cM Map455.34NCBI
C5h1orf50
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85138,122,595 - 138,126,973 (-)NCBIGRCr8
mRatBN7.25132,837,135 - 132,841,744 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5132,836,506 - 132,841,762 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5135,564,928 - 135,569,301 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05137,321,392 - 137,325,765 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05137,341,978 - 137,346,351 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05138,274,907 - 138,279,285 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5138,274,907 - 138,279,285 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05142,085,034 - 142,091,328 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45139,811,356 - 139,816,011 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5131,362,886 - 131,367,264 (-)NCBICelera
Cytogenetic Map5q36NCBI
LOC102015143
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555372,292,519 - 2,301,977 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555372,292,430 - 2,301,938 (+)NCBIChiLan1.0ChiLan1.0
C1H1orf50
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21184,020,279 - 184,045,533 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11183,161,945 - 183,187,196 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0142,065,931 - 42,080,656 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1143,443,615 - 43,458,168 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl143,443,611 - 43,452,684 (+)Ensemblpanpan1.1panPan2
C15H1orf50
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.115595,391 - 603,176 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl15595,309 - 603,237 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha15850,786 - 858,795 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.015677,371 - 685,378 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl15677,525 - 685,511 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.115586,853 - 594,852 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.015648,366 - 656,345 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.015663,408 - 671,414 (-)NCBIUU_Cfam_GSD_1.0
CUNH1orf50
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505858,268,729 - 58,281,343 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647424,093,600 - 24,104,303 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647424,093,572 - 24,108,915 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C6H1orf50
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.16168,656,998 - 168,668,079 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26156,178,361 - 156,183,124 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH1orf50
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12090,158,211 - 90,166,451 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2090,158,554 - 90,166,389 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603326,744,006 - 26,753,089 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH1orf50
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248922,003,470 - 2,007,392 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248922,003,424 - 2,007,392 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1orf50
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 copy number loss See cases [RCV000050706] Chr1:40693289..44514104 [GRCh38]
Chr1:41158961..44979776 [GRCh37]
Chr1:40931548..44752363 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1		 pathogenic
GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 copy number loss See cases [RCV000053837] Chr1:40462415..44668040 [GRCh38]
Chr1:40928087..45133712 [GRCh37]
Chr1:40700674..44906299 [NCBI36]
Chr1:1p34.2-34.1		 pathogenic
GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1 copy number loss See cases [RCV000141339] Chr1:42653385..43093829 [GRCh38]
Chr1:43119056..43559500 [GRCh37]
Chr1:42891643..43332087 [NCBI36]
Chr1:1p34.2		 likely pathogenic
GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1 copy number loss See cases [RCV000142267] Chr1:40834404..43123071 [GRCh38]
Chr1:41300076..43588742 [GRCh37]
Chr1:41072663..43361329 [NCBI36]
Chr1:1p34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 copy number loss See cases [RCV000446029] Chr1:42914303..45001279 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_024097.4(C1orf50):c.69A>C (p.Ala23=) single nucleotide variant not provided [RCV001559827] Chr1:42767380 [GRCh38]
Chr1:43233051 [GRCh37]
Chr1:1p34.2		 likely benign
NC_000001.10:g.(?_43212368)_(43424322_?)del deletion GLUT1 deficiency syndrome 1, autosomal recessive [RCV001382637] Chr1:43212368..43424322 [GRCh37]
Chr1:1p34.2		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NC_000001.10:g.(?_42922237)_(44395893_?)del deletion not provided [RCV001939188] Chr1:42922237..44395893 [GRCh37]
Chr1:1p34.2-34.1		 pathogenic
NM_024097.4(C1orf50):c.373C>T (p.Arg125Trp) single nucleotide variant Inborn genetic diseases [RCV002969791] Chr1:42774827 [GRCh38]
Chr1:43240498 [GRCh37]
Chr1:1p34.2		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
GRCh38/hg38 1p34.2(chr1:42278946-43598390) copy number loss Epilepsy syndrome [RCV003986075] Chr1:42278946..43598390 [GRCh38]
Chr1:1p34.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1551
Count of miRNA genes:743
Interacting mature miRNAs:842
Transcripts:ENST00000372525, ENST00000421630, ENST00000438946, ENST00000464081, ENST00000468913, ENST00000494155, ENST00000536543, ENST00000603943, ENST00000605272
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
RH92982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,241,258 - 43,241,402UniSTSGRCh37
Build 36143,013,845 - 43,013,989RGDNCBI36
Celera141,523,190 - 41,523,334RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,361,239 - 41,361,383UniSTS
GeneMap99-GB4 RH Map1127.56UniSTS
D1S1307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,234,461 - 43,234,676UniSTSGRCh37
Build 36143,007,048 - 43,007,263RGDNCBI36
Celera141,516,393 - 41,516,608RGD
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map1p34.2UniSTS
HuRef141,354,444 - 41,354,659UniSTS
SHGC-2670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,231,187 - 43,231,347UniSTSGRCh37
Build 36143,003,774 - 43,003,934RGDNCBI36
Celera141,513,119 - 41,513,279RGD
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map1p34.2UniSTS
HuRef141,351,170 - 41,351,330UniSTS
TNG Radiation Hybrid Map121008.0UniSTS
GeneMap99-G3 RH Map12362.0UniSTS
SHGC-74725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37143,241,467 - 43,241,576UniSTSGRCh37
Build 36143,014,054 - 43,014,163RGDNCBI36
Celera141,523,399 - 41,523,508RGD
Cytogenetic Map1p34.2UniSTS
HuRef141,361,448 - 41,361,557UniSTS
TNG Radiation Hybrid Map121013.0UniSTS
GeneMap99-GB4 RH Map1134.78UniSTS
Whitehead-RH Map1144.7UniSTS


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 1664 1503 1209 153 653 99 3341 1142 2825 135 1271 1128 61 973 2078 1
Low 775 1486 515 469 1297 364 1016 1055 909 284 189 485 113 1 231 710 6 1
Below cutoff 2 2 2 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000372525   ⟹   ENSP00000361603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,249 - 42,779,491 (+)Ensembl
RefSeq Acc Id: ENST00000468913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,769,678 - 42,775,428 (+)Ensembl
RefSeq Acc Id: ENST00000494155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,773,187 - 42,774,770 (+)Ensembl
RefSeq Acc Id: ENST00000650521   ⟹   ENSP00000498207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,306 - 42,775,759 (+)Ensembl
RefSeq Acc Id: ENST00000685942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,278 - 42,775,772 (+)Ensembl
RefSeq Acc Id: ENST00000687946   ⟹   ENSP00000509479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,276 - 42,775,770 (+)Ensembl
RefSeq Acc Id: ENST00000691126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,286 - 42,775,523 (+)Ensembl
RefSeq Acc Id: ENST00000691927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,289 - 42,773,616 (+)Ensembl
RefSeq Acc Id: ENST00000692016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,319 - 42,775,759 (+)Ensembl
RefSeq Acc Id: ENST00000692952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,294 - 42,775,527 (+)Ensembl
RefSeq Acc Id: ENST00000693399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl142,767,245 - 42,773,853 (+)Ensembl
RefSeq Acc Id: NM_024097   ⟹   NP_077002
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,767,249 - 42,779,491 (+)NCBI
GRCh37143,232,916 - 43,241,413 (+)NCBI
Build 36143,005,527 - 43,013,998 (+)NCBI Archive
Celera141,514,848 - 41,523,350 (+)RGD
HuRef141,352,899 - 41,361,394 (+)NCBI
CHM1_1143,349,721 - 43,358,217 (+)NCBI
T2T-CHM13v2.0142,637,739 - 42,649,982 (+)NCBI
Sequence:
RefSeq Acc Id: NR_040733
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,767,249 - 42,779,491 (+)NCBI
GRCh37143,232,916 - 43,241,413 (+)NCBI
HuRef141,352,899 - 41,361,394 (+)NCBI
CHM1_1143,349,721 - 43,358,217 (+)NCBI
T2T-CHM13v2.0142,637,739 - 42,649,982 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_077002   ⟸   NM_024097
- UniProtKB: Q9BV19 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361603   ⟸   ENST00000372525
RefSeq Acc Id: ENSP00000498207   ⟸   ENST00000650521
RefSeq Acc Id: ENSP00000509479   ⟸   ENST00000687946

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BV19-F1-model_v2 AlphaFold Q9BV19 1-199 view protein structure

Promoters
RGD ID:6855194
Promoter ID:EPDNEW_H762
Type:initiation region
Name:C1orf50_1
Description:chromosome 1 open reading frame 50
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H763  EPDNEW_H764  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,767,264 - 42,767,324EPDNEW
RGD ID:6855196
Promoter ID:EPDNEW_H763
Type:initiation region
Name:C1orf50_2
Description:chromosome 1 open reading frame 50
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H762  EPDNEW_H764  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,767,675 - 42,767,735EPDNEW
RGD ID:6855198
Promoter ID:EPDNEW_H764
Type:multiple initiation site
Name:C1orf50_3
Description:chromosome 1 open reading frame 50
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H762  EPDNEW_H763  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38142,775,217 - 42,775,277EPDNEW
RGD ID:6785925
Promoter ID:HG_KWN:2306
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001146289,   NM_022356,   NM_024097,   OTTHUMT00000019994,   OTTHUMT00000020002,   OTTHUMT00000020004,   OTTHUMT00000329581,   UC001CHX.2,   UC001CHY.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36143,005,286 - 43,005,786 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28795 AgrOrtholog
COSMIC C1orf50 COSMIC
Ensembl Genes ENSG00000164008 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000283580 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372525 ENTREZGENE
  ENST00000372525.7 UniProtKB/Swiss-Prot
  ENST00000464081.1 UniProtKB/TrEMBL
  ENST00000603943.6 UniProtKB/TrEMBL
  ENST00000650521.1 UniProtKB/TrEMBL
  ENST00000687946.1 UniProtKB/TrEMBL
GTEx ENSG00000164008 GTEx
  ENSG00000283580 GTEx
HGNC ID HGNC:28795 ENTREZGENE
Human Proteome Map C1orf50 Human Proteome Map
InterPro DUF2452 UniProtKB/Swiss-Prot
KEGG Report hsa:79078 UniProtKB/Swiss-Prot
NCBI Gene 79078 ENTREZGENE
PANTHER PTHR14553 UniProtKB/Swiss-Prot
  SIMILAR TO CHROMOSOME 1 OPEN READING FRAME 50 UniProtKB/Swiss-Prot
Pfam DUF2452 UniProtKB/Swiss-Prot
PharmGKB PA134861089 PharmGKB
UniProt A0A8I5QKT5_HUMAN UniProtKB/TrEMBL
  B4DSR2_HUMAN UniProtKB/TrEMBL
  CA050_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  R4GMT4_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 C1orf50  chromosome 1 open reading frame 50  AC098484.3  novel protein  Data merged from RGD:16570303 737654 PROVISIONAL