NT5C (5', 3'-nucleotidase, cytosolic) - Rat Genome Database
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Gene: NT5C (5', 3'-nucleotidase, cytosolic) Homo sapiens
Analyze
Symbol: NT5C
Name: 5', 3'-nucleotidase, cytosolic
RGD ID: 1353894
HGNC Page HGNC
Description: Exhibits identical protein binding activity; nucleotidase activity; and pyrimidine nucleotide binding activity. Involved in dephosphorylation and pyrimidine deoxyribonucleotide catabolic process. Localizes to cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5' nucleotidase, deoxy (pyrimidine), cytosolic type C; 5'(3')-deoxyribonucleotidase, cytosolic type; cdN; cytosolic 5',3'-pyrimidine nucleotidase; deoxy-5'-nucleotidase 1; DNT; dNT-1; DNT1; epididymis luminal protein 74; HEL74; P5N2; PN-I; PN-II; UMPH2; uridine 5'-monophosphate phosphohydrolase 2; uridine 5-prime monophosphate hydrolase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NT5CP1   NT5CP2   NT5CP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,130,225 - 75,131,757 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,130,228 - 75,131,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,126,323 - 73,127,837 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371773,126,320 - 73,127,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,637,918 - 70,639,472 (-)NCBINCBI36hg18NCBI36
Build 341770,637,918 - 70,639,472NCBI
Celera1769,718,700 - 69,720,253 (-)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1768,536,008 - 68,537,577 (-)NCBIHuRef
CHM1_11773,190,820 - 73,192,389 (-)NCBICHM1_1
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

Cellular Component
cytoplasm  (IDA)
cytosol  (IDA,TAS)
extracellular exosome  (HDA)
nucleus  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:2157703   PMID:2833155   PMID:3186746   PMID:10681516   PMID:10899995   PMID:12234672   PMID:12418222   PMID:12477932   PMID:12714505   PMID:14702039   PMID:15136231   PMID:15489334  
PMID:17207965   PMID:18029348   PMID:19056867   PMID:20877624   PMID:21873635   PMID:23376485   PMID:23533145   PMID:25814554   PMID:26186194   PMID:28514442   PMID:28986522   PMID:31515488  
PMID:32296183  


Genomics

Comparative Map Data
NT5C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1775,130,225 - 75,131,757 (-)EnsemblGRCh38hg38GRCh38
GRCh381775,130,228 - 75,131,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371773,126,323 - 73,127,837 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371773,126,320 - 73,127,890 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361770,637,918 - 70,639,472 (-)NCBINCBI36hg18NCBI36
Build 341770,637,918 - 70,639,472NCBI
Celera1769,718,700 - 69,720,253 (-)NCBI
Cytogenetic Map17q25.1NCBI
HuRef1768,536,008 - 68,537,577 (-)NCBIHuRef
CHM1_11773,190,820 - 73,192,389 (-)NCBICHM1_1
Nt5c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911115,381,246 - 115,382,896 (-)NCBIGRCm39mm39
GRCm3811115,490,420 - 115,492,070 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11115,490,420 - 115,491,862 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711115,351,739 - 115,353,128 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611115,306,515 - 115,307,904 (-)NCBImm8
Celera11127,257,296 - 127,258,685 (-)NCBICelera
Cytogenetic Map11E2NCBI
Nt5c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210100,739,591 - 100,742,276 (-)NCBI
Rnor_6.0 Ensembl10104,052,831 - 104,054,805 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.010104,052,807 - 104,054,805 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.010104,225,988 - 104,227,164 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410105,574,754 - 105,576,848 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1099,314,518 - 99,316,243 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Nt5c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555532,011,738 - 2,013,443 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555532,011,549 - 2,014,209 (-)NCBIChiLan1.0ChiLan1.0
NT5C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11774,632,846 - 74,634,136 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01769,077,021 - 69,078,998 (-)NCBIMhudiblu_PPA_v0panPan3
NT5C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl95,343,378 - 5,344,380 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.195,342,793 - 5,344,432 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Nt5c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936594430,274 - 432,027 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NT5C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,139,439 - 6,164,142 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,162,420 - 6,164,143 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2126,124,412 - 6,126,605 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NT5C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11646,531,820 - 46,533,763 (+)NCBI
ChlSab1.1 Ensembl1646,532,216 - 46,535,736 (+)Ensembl
Nt5c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248014,952,736 - 4,954,660 (-)NCBI

Position Markers
RH15966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,126,103 - 73,126,240UniSTSGRCh37
Build 361770,637,698 - 70,637,835RGDNCBI36
Celera1769,718,480 - 69,718,617RGD
Cytogenetic Map17q25.1UniSTS
HuRef1768,535,791 - 68,535,928UniSTS
GeneMap99-GB4 RH Map17475.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3932
Count of miRNA genes:806
Interacting mature miRNAs:960
Transcripts:ENST00000245552, ENST00000577523, ENST00000578095, ENST00000578337, ENST00000578407, ENST00000579023, ENST00000579082, ENST00000580423, ENST00000580758, ENST00000582160, ENST00000582170, ENST00000582744, ENST00000583655, ENST00000584352
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2834 1696 594 1876 437 4346 2104 3574 415 1438 1603 171 1204 2784 3
Low 9 156 30 30 75 28 10 93 153 3 20 9 4 1 4 3 2
Below cutoff 7 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001252377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF154829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG034032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ431723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU627693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000245552   ⟹   ENSP00000245552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,228 - 75,131,742 (-)Ensembl
RefSeq Acc Id: ENST00000577523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,363 - 75,131,425 (-)Ensembl
RefSeq Acc Id: ENST00000578095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,571 - 75,131,757 (-)Ensembl
RefSeq Acc Id: ENST00000578337   ⟹   ENSP00000462981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,568 - 75,131,321 (-)Ensembl
RefSeq Acc Id: ENST00000578407   ⟹   ENSP00000462697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,230 - 75,131,683 (-)Ensembl
RefSeq Acc Id: ENST00000579023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,546 - 75,131,730 (-)Ensembl
RefSeq Acc Id: ENST00000579082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,788 - 75,131,714 (-)Ensembl
RefSeq Acc Id: ENST00000580423   ⟹   ENSP00000463947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,332 - 75,131,258 (-)Ensembl
RefSeq Acc Id: ENST00000580758   ⟹   ENSP00000462123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,228 - 75,131,743 (-)Ensembl
RefSeq Acc Id: ENST00000582160   ⟹   ENSP00000462712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,225 - 75,131,446 (-)Ensembl
RefSeq Acc Id: ENST00000582170   ⟹   ENSP00000461927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,473 - 75,131,744 (-)Ensembl
RefSeq Acc Id: ENST00000582744   ⟹   ENSP00000462455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,271 - 75,131,473 (-)Ensembl
RefSeq Acc Id: ENST00000583655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,228 - 75,131,749 (-)Ensembl
RefSeq Acc Id: ENST00000584352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1775,130,436 - 75,131,048 (-)Ensembl
RefSeq Acc Id: NM_001252377   ⟹   NP_001239306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,228 - 75,131,742 (-)NCBI
GRCh371773,126,320 - 73,127,890 (-)NCBI
HuRef1768,536,008 - 68,537,577 (-)NCBI
CHM1_11773,190,820 - 73,192,389 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014595   ⟹   NP_055410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,228 - 75,131,742 (-)NCBI
GRCh371773,126,320 - 73,127,890 (-)NCBI
Build 361770,637,918 - 70,639,472 (-)NCBI Archive
HuRef1768,536,008 - 68,537,577 (-)NCBI
CHM1_11773,190,820 - 73,192,389 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045513
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,228 - 75,131,742 (-)NCBI
GRCh371773,126,320 - 73,127,890 (-)NCBI
HuRef1768,536,008 - 68,537,577 (-)NCBI
CHM1_11773,190,820 - 73,192,389 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524700   ⟹   XP_011523002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,775 - 75,131,965 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002957995
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,546 - 75,131,959 (-)NCBI
Sequence:
RefSeq Acc Id: XR_429885
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381775,130,228 - 75,131,796 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055410   ⟸   NM_014595
- Peptide Label: isoform 1
- UniProtKB: Q8TCD5 (UniProtKB/Swiss-Prot),   V9HWF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001239306   ⟸   NM_001252377
- Peptide Label: isoform 2
- UniProtKB: Q8TCD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011523002   ⟸   XM_011524700
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000462123   ⟸   ENST00000580758
RefSeq Acc Id: ENSP00000463947   ⟸   ENST00000580423
RefSeq Acc Id: ENSP00000461927   ⟸   ENST00000582170
RefSeq Acc Id: ENSP00000462712   ⟸   ENST00000582160
RefSeq Acc Id: ENSP00000462455   ⟸   ENST00000582744
RefSeq Acc Id: ENSP00000245552   ⟸   ENST00000245552
RefSeq Acc Id: ENSP00000462697   ⟸   ENST00000578407
RefSeq Acc Id: ENSP00000462981   ⟸   ENST00000578337

Promoters
RGD ID:6816157
Promoter ID:HG_SPT:27651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:AA122047,   AA463444,   AA564418,   AI193148,   AI394640,   AI521211,   AI738933,   AI739315,   AI739412,   AI760424,   AI765105,   AI805898,   AI807535,   AI927481,   AI990813,   AI990907,   AW005383,   BE839935,   BF149405,   BF358643,   BM674766,   BM676576,   BM976724,   BQ300102,   BU627693,   BU631050,   BU731508,   BX361788,   CF541339
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,638,001 - 70,638,742 (+)MPROMDB
RGD ID:6794390
Promoter ID:HG_KWN:27082
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014595,   UC002JMY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361770,639,086 - 70,639,586 (-)MPROMDB
RGD ID:7236271
Promoter ID:EPDNEW_H23881
Type:initiation region
Name:NT5C_1
Description:5', 3'-nucleotidase, cytosolic
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
GRCh381775,131,742 - 75,131,802EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_014595.2(NT5C):c.579C>T (p.Ser193=) single nucleotide variant Malignant melanoma [RCV000071664] Chr17:75130515 [GRCh38]
Chr17:73126610 [GRCh37]
Chr17:70638205 [NCBI36]
Chr17:17q25.1
not provided
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3 copy number gain not provided [RCV000585184] Chr17:72901452..73518861 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3 copy number gain not provided [RCV000683960] Chr17:72962625..73281784 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3 copy number gain not provided [RCV000683961] Chr17:73057756..73429731 [GRCh37]
Chr17:17q25.1
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3 copy number gain not provided [RCV000762750] Chr17:64159738..74891024 [GRCh37]
Chr17:17q24.1-25.2
likely pathogenic
GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) copy number gain not provided [RCV000767767] Chr17:70720436..73175266 [GRCh37]
Chr17:17q24.3-25.1
pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3 copy number gain not provided [RCV001006917] Chr17:72945415..73414786 [GRCh37]
Chr17:17q25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17144 AgrOrtholog
COSMIC NT5C COSMIC
Ensembl Genes ENSG00000125458 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000245552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000461927 UniProtKB/TrEMBL
  ENSP00000462123 UniProtKB/Swiss-Prot
  ENSP00000462455 UniProtKB/TrEMBL
  ENSP00000462697 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000462712 UniProtKB/TrEMBL
  ENSP00000462981 UniProtKB/TrEMBL
  ENSP00000463947 UniProtKB/TrEMBL
Ensembl Transcript ENST00000245552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000578337 UniProtKB/TrEMBL
  ENST00000578407 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000580423 UniProtKB/TrEMBL
  ENST00000580758 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000582160 UniProtKB/TrEMBL
  ENST00000582170 UniProtKB/TrEMBL
  ENST00000582744 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125458 GTEx
HGNC ID HGNC:17144 ENTREZGENE
Human Proteome Map NT5C Human Proteome Map
InterPro 5'(3')-deoxyribonucleotidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:30833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 30833 ENTREZGENE
OMIM 191720 OMIM
Pfam NT5C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31798 PharmGKB
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt J3KRC4_HUMAN UniProtKB/TrEMBL
  J3KSF0_HUMAN UniProtKB/TrEMBL
  J3KSX6_HUMAN UniProtKB/TrEMBL
  J3KSY6_HUMAN UniProtKB/TrEMBL
  J3QQX8_HUMAN UniProtKB/TrEMBL
  NT5C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9HWF3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q96HS6 UniProtKB/Swiss-Prot
  Q9NP82 UniProtKB/Swiss-Prot