C5orf67 (chromosome 5 putative open reading frame 67) - Rat Genome Database

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Gene: C5orf67 (chromosome 5 putative open reading frame 67) Homo sapiens
Analyze
Symbol: C5orf67
Name: chromosome 5 putative open reading frame 67
RGD ID: 9836383
HGNC Page HGNC:51252
Description: INTERACTS WITH aflatoxin B1; benzo[e]pyrene; lipopolysaccharide
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: chromosome 5 open reading frame 67; Uncharacterized protein C5orf67; uncharacterized protein LOC101928448
RGD Orthologs
Bonobo
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
GRCh38556,511,282 - 56,606,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl556,511,567 - 56,606,232 (-)EnsemblGRCh38hg38GRCh38
GRCh37555,807,109 - 55,902,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map5q11.2NCBI
HuRef552,781,159 - 52,802,436 (-)NCBIHuRef
CHM1_1555,812,687 - 55,833,979 (-)NCBICHM1_1
T2T-CHM13v2.0557,339,221 - 57,434,172 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:15372022   PMID:20686565   PMID:20864672   PMID:23263486   PMID:23754948   PMID:23966867   PMID:24097068   PMID:24204828   PMID:31928498  


Genomics

Comparative Map Data
C5orf67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38556,511,282 - 56,606,256 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl556,511,567 - 56,606,232 (-)EnsemblGRCh38hg38GRCh38
GRCh37555,807,109 - 55,902,083 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map5q11.2NCBI
HuRef552,781,159 - 52,802,436 (-)NCBIHuRef
CHM1_1555,812,687 - 55,833,979 (-)NCBICHM1_1
T2T-CHM13v2.0557,339,221 - 57,434,172 (-)NCBIT2T-CHM13v2.0
LOC103783109
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2457,395,413 - 57,419,907 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1555,549,044 - 55,573,538 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0557,461,083 - 57,508,019 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1559,039,676 - 59,134,362 (+)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in C5orf67
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] Chr5:53332485..57152396 [GRCh38]
Chr5:52628315..56448223 [GRCh37]
Chr5:52664072..56483980 [NCBI36]
Chr5:5q11.2
uncertain significance
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:163
Count of miRNA genes:162
Interacting mature miRNAs:162
Transcripts:ENST00000438651
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.


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 21 1 31 13 2 1
Low 179 623 714 37 953 24 620 29 319 218 215 811 12 77 399
Below cutoff 1258 1181 486 287 411 167 2098 808 2420 104 879 526 128 774 1243 2

Sequence


RefSeq Acc Id: ENST00000611197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl556,511,722 - 56,535,230 (-)Ensembl
RefSeq Acc Id: ENST00000648716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl556,511,567 - 56,606,232 (-)Ensembl
RefSeq Acc Id: NR_161255
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38556,511,282 - 56,606,256 (-)NCBI
T2T-CHM13v2.0557,339,221 - 57,434,172 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein F2Z3F1 (Get FASTA)   NCBI Sequence Viewer  

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-F2Z3F1-F1-model_v2 AlphaFold F2Z3F1 1-127 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC C5orf67 COSMIC
Ensembl Genes ENSG00000225940 Ensembl
GTEx ENSG00000225940 GTEx
HGNC ID HGNC:51252 ENTREZGENE
Human Proteome Map C5orf67 Human Proteome Map
NCBI Gene C5orf67 ENTREZGENE
PharmGKB PA166180571 PharmGKB
RNAcentral URS0000E60A56 RNACentral
UniProt CE067_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-08-10 C5orf67  chromosome 5 putative open reading frame 67  C5orf67  chromosome 5 open reading frame 67  Symbol and/or name change 19259463 PROVISIONAL
2020-08-03 C5orf67  chromosome 5 open reading frame 67  C5orf67  chromosome 5 putative open reading frame 67  Symbol and/or name change 19259463 PROVISIONAL
2019-11-05 C5orf67  chromosome 5 putative open reading frame 67  C5orf67  chromosome 5 open reading frame 67  Symbol and/or name change 5135510 APPROVED