NDUFV1-DT (NDUFV1 divergent transcript) - Rat Genome Database

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Gene: NDUFV1-DT (NDUFV1 divergent transcript) Homo sapiens
Analyze
Symbol: NDUFV1-DT
Name: NDUFV1 divergent transcript
RGD ID: 1601925
HGNC Page HGNC:26915
Description: ASSOCIATED WITH Aicardi-Goutieres Syndrome 3; Intellectual disability; intellectual disability
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: C11orf72; chromosome 11 open reading frame 72; chromosome 11 open reading frame 72 (putative); chromosome 11 putative open reading frame 72; FLJ90834; MGC129824; MGC129825
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381167,602,880 - 67,606,706 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1167,602,880 - 67,606,706 (-)EnsemblGRCh38hg38GRCh38
GRCh371167,370,351 - 67,374,177 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361167,126,927 - 67,130,753 (-)NCBINCBI36Build 36hg18NCBI36
Celera1164,704,812 - 64,708,638 (-)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1163,699,597 - 63,703,423 (-)NCBIHuRef
CHM1_11167,253,403 - 67,257,229 (-)NCBICHM1_1
T2T-CHM13v2.01167,597,568 - 67,601,394 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:11181995   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16554811   PMID:19490893   PMID:23964515  


Genomics

Variants

.
Variants in NDUFV1-DT
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3 copy number gain See cases [RCV000134151] Chr11:67590733..67806931 [GRCh38]
Chr11:67358204..67574402 [GRCh37]
Chr11:67114780..67330978 [NCBI36]
Chr11:11q13.2		 uncertain significance
GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1 copy number loss See cases [RCV000135609] Chr11:67217264..69448598 [GRCh38]
Chr11:66984735..69263366 [GRCh37]
Chr11:66741311..68972547 [NCBI36]
Chr11:11q13.2-13.3		 likely pathogenic
GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1 copy number loss See cases [RCV000136875] Chr11:67397196..67644438 [GRCh38]
Chr11:67164667..67411909 [GRCh37]
Chr11:66921243..67168485 [NCBI36]
Chr11:11q13.2		 benign
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3 copy number gain See cases [RCV000050869] Chr11:67590733..67698250 [GRCh38]
Chr11:67358204..67465721 [GRCh37]
Chr11:67114780..67222297 [NCBI36]
Chr11:11q13.2		 uncertain significance
GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1 copy number loss See cases [RCV000052682] Chr11:66885910..67698250 [GRCh38]
Chr11:66653381..67465721 [GRCh37]
Chr11:66409957..67222297 [NCBI36]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1 copy number loss See cases [RCV000052683] Chr11:67446153..68679073 [GRCh38]
Chr11:67213624..68446541 [GRCh37]
Chr11:66970200..68203117 [NCBI36]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2		 pathogenic
NC_000011.10:g.67606198_67820541dup duplication Normal pregnancy [RCV000161632] Chr11:67606198..67820541 [GRCh38]
Chr11:67373669..67588012 [GRCh37]
Chr11:11q13.2		 not provided
NC_000011.10:g.67604778G>A single nucleotide variant Malignant melanoma [RCV000069635] Chr11:67604778 [GRCh38]
Chr11:67372249 [GRCh37]
Chr11:67128825 [NCBI36]
Chr11:11q13.2		 not provided
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q13.2(chr11:67349586-67459662)x3 copy number gain See cases [RCV000447270] Chr11:67349586..67459662 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.2(chr11:67331526-67693404)x3 copy number gain not provided [RCV000750095] Chr11:67331526..67693404 [GRCh37]
Chr11:11q13.2		 benign
GRCh37/hg19 11q13.2(chr11:67349872-67715028)x3 copy number gain not provided [RCV000750096] Chr11:67349872..67715028 [GRCh37]
Chr11:11q13.2		 benign
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2		 pathogenic
GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3 copy number gain not provided [RCV000847752] Chr11:67081259..67471729 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_007103.3(NDUFV1):c.-320A>G single nucleotide variant not provided [RCV000843297] Chr11:67606685 [GRCh38]
Chr11:67374156 [GRCh37]
Chr11:11q13.2		 benign
NC_000011.9:g.(?_64973914)_(70052579_?)dup duplication Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3		 uncertain significance
NC_000011.10:g.67606526dup duplication not provided [RCV001558046] Chr11:67606525..67606526 [GRCh38]
Chr11:67373996..67373997 [GRCh37]
Chr11:11q13.2		 likely benign
GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3 copy number gain not provided [RCV001006414] Chr11:66820585..67979510 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_67351315)_(67379929_?)dup duplication not provided [RCV003109610] Chr11:67351315..67379929 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:734
Count of miRNA genes:505
Interacting mature miRNAs:536
Transcripts:ENST00000333139, ENST00000446232
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
STS-N93261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,374,682 - 67,374,876UniSTSGRCh37
Build 361167,131,258 - 67,131,452RGDNCBI36
Celera1164,709,143 - 64,709,337RGD
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
HuRef1163,703,928 - 63,704,122UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS
NCBI RH Map11589.5UniSTS
D11S2245E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371167,375,892 - 67,376,110UniSTSGRCh37
Build 361167,132,468 - 67,132,686RGDNCBI36
Celera1164,710,354 - 64,710,572RGD
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
HuRef1163,705,139 - 63,705,357UniSTS
GeneMap99-GB4 RH Map11259.92UniSTS


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 13 5 34 179 8 14 9 25 45 1
Low 167 14 111 64 205 68 116 55 127 149 518 280 8 1 3 4
Below cutoff 1643 1947 1204 329 859 222 3268 1653 3140 194 622 995 107 806 2285

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000333139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,602,880 - 67,606,706 (-)Ensembl
RefSeq Acc Id: ENST00000446232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1167,604,053 - 67,605,964 (-)Ensembl
RefSeq Acc Id: NR_130935
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,602,880 - 67,606,706 (-)NCBI
CHM1_11167,253,403 - 67,257,229 (-)NCBI
T2T-CHM13v2.01167,597,568 - 67,601,394 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein BAC11541 (Get FASTA)   NCBI Sequence Viewer  
  CAF86926 (Get FASTA)   NCBI Sequence Viewer  
  EAW74651 (Get FASTA)   NCBI Sequence Viewer  
  Q8NBR9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NBR9-F1-model_v2 AlphaFold Q8NBR9 1-251 view protein structure

Promoters
RGD ID:6789163
Promoter ID:HG_KWN:13484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000333139,   NM_001166102,   NM_007103,   UC001OML.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361167,130,786 - 67,131,286 (+)MPROMDB
RGD ID:15096544
Promoter ID:EPDNEWNC_H1366
Type:initiation region
Name:C11orf72_2
Description:chromosome 11 open reading frame 72 (putative) [Source:HGNCSymbol;Acc:HGNC:26915]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,605,932 - 67,605,992EPDNEWNC
RGD ID:15096574
Promoter ID:EPDNEWNC_H1367
Type:initiation region
Name:C11orf72_1
Description:chromosome 11 open reading frame 72 (putative) [Source:HGNCSymbol;Acc:HGNC:26915]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381167,606,737 - 67,606,797EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC NDUFV1-DT COSMIC
Ensembl Genes ENSG00000184224 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000333139 ENTREZGENE
GTEx ENSG00000184224 GTEx
HGNC ID HGNC:26915 ENTREZGENE
Human Proteome Map NDUFV1-DT Human Proteome Map
NCBI Gene C11orf72 ENTREZGENE
RNAcentral URS00007C9E84 RNACentral
UniProt CK072_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-08 NDUFV1-DT  NDUFV1 divergent transcript  C11orf72  chromosome 11 putative open reading frame 72  Symbol and/or name change 19259463 PROVISIONAL
2020-08-10 C11orf72  chromosome 11 putative open reading frame 72  C11orf72  chromosome 11 open reading frame 72  Symbol and/or name change 19259463 PROVISIONAL
2020-08-03 C11orf72  chromosome 11 open reading frame 72  C11orf72  chromosome 11 putative open reading frame 72  Symbol and/or name change 19259463 PROVISIONAL
2019-10-08 C11orf72  chromosome 11 putative open reading frame 72  C11orf72  chromosome 11 open reading frame 72 (putative)  Symbol and/or name change 5135510 APPROVED
2017-10-31 C11orf72  chromosome 11 open reading frame 72 (putative)    chromosome 11 open reading frame 72  Symbol and/or name change 5135510 APPROVED