C19orf73 (chromosome 19 open reading frame 73) - Rat Genome Database

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Gene: C19orf73 (chromosome 19 open reading frame 73) Homo sapiens
Analyze
Symbol: C19orf73
Name: chromosome 19 open reading frame 73
RGD ID: 1602703
HGNC Page HGNC:25534
Description: ASSOCIATED WITH developmental and epileptic encephalopathy 12; progressive familial heart block type IB; INTERACTS WITH 2-hydroxypropanoic acid; cisplatin; rac-lactic acid
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10490; putative uncharacterized protein C19orf73
RGD Orthologs
Bonobo
Dog
Squirrel
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
GRCh381949,118,402 - 49,119,143 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,118,402 - 49,119,143 (-)EnsemblGRCh38hg38GRCh38
GRCh371949,621,659 - 49,622,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,313,466 - 54,314,209 (-)NCBINCBI36Build 36hg18NCBI36
Celera1946,488,874 - 46,489,617 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,997,818 - 45,998,561 (-)NCBIHuRef
CHM1_11949,623,766 - 49,624,509 (-)NCBICHM1_1
T2T-CHM13v2.01952,113,136 - 52,113,877 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction 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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17207965   PMID:25416956  


Genomics

Comparative Map Data
C19orf73
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,118,402 - 49,119,143 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,118,402 - 49,119,143 (-)EnsemblGRCh38hg38GRCh38
GRCh371949,621,659 - 49,622,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361954,313,466 - 54,314,209 (-)NCBINCBI36Build 36hg18NCBI36
Celera1946,488,874 - 46,489,617 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1945,997,818 - 45,998,561 (-)NCBIHuRef
CHM1_11949,623,766 - 49,624,509 (-)NCBICHM1_1
T2T-CHM13v2.01952,113,136 - 52,113,877 (-)NCBIT2T-CHM13v2.0
C20H19orf73
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,233,468 - 55,233,917 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,152,994 - 57,153,802 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,129,587 - 46,132,416 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,055,698 - 55,056,599 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,055,934 - 55,056,323 (-)Ensemblpanpan1.1panPan2
C1H19orf73
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11107,329,024 - 107,332,509 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ROS_Cfam_1.01107,856,643 - 107,857,602 (+)NCBIROS_Cfam_1.0
CUNH19orf73
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,438,530 - 21,445,041 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366643,062,713 - 3,063,231 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CUNH19orf73
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,341,863 - 42,342,754 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607322,234,116 - 22,234,860 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH19orf73
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248324,964,967 - 4,965,486 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C19orf73
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:49556215-49651042)x1 copy number loss not provided [RCV000752727] Chr19:49556215..49651042 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_49472545)_(49714755_?)del deletion Progressive familial heart block type IB [RCV003119771] Chr19:49472545..49714755 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:392
Count of miRNA genes:312
Interacting mature miRNAs:325
Transcripts:ENST00000408991
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.


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 10 9 2 2 2 3 1 210 1 36 7
Low 2315 2285 1702 615 1427 456 3926 1895 3434 388 1273 1539 172 1 1093 2414 4 2
Below cutoff 110 678 15 7 433 7 405 291 81 25 130 62 2 105 357 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000408991   ⟹   ENSP00000386230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,118,402 - 49,119,143 (-)Ensembl
RefSeq Acc Id: NM_018111   ⟹   NP_060581
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,118,402 - 49,119,143 (-)NCBI
GRCh371949,621,654 - 49,622,397 (-)RGD
Build 361954,313,466 - 54,314,209 (-)NCBI Archive
Celera1946,488,874 - 46,489,617 (-)RGD
HuRef1945,997,818 - 45,998,561 (-)ENTREZGENE
CHM1_11949,623,766 - 49,624,509 (-)NCBI
T2T-CHM13v2.01952,113,136 - 52,113,877 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060581   ⟸   NM_018111
- UniProtKB: Q6NSX4 (UniProtKB/Swiss-Prot),   Q9NVV2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000386230   ⟸   ENST00000408991

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NVV2-F1-model_v2 AlphaFold Q9NVV2 1-129 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC C19orf73 COSMIC
Ensembl Genes ENSG00000221916 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000408991 ENTREZGENE
  ENST00000408991.4 UniProtKB/Swiss-Prot
GTEx ENSG00000221916 GTEx
HGNC ID HGNC:25534 ENTREZGENE
Human Proteome Map C19orf73 Human Proteome Map
InterPro DUF5538 UniProtKB/Swiss-Prot
KEGG Report hsa:55150 UniProtKB/Swiss-Prot
NCBI Gene 55150 ENTREZGENE
Pfam DUF5538 UniProtKB/Swiss-Prot
PharmGKB PA164717000 PharmGKB
UniProt CS073_HUMAN UniProtKB/Swiss-Prot
  Q6NSX4 ENTREZGENE
  Q9NVV2 ENTREZGENE
UniProt Secondary Q6NSX4 UniProtKB/Swiss-Prot