RNGTT (RNA guanylyltransferase and 5'-phosphatase) - Rat Genome Database
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Gene: RNGTT (RNA guanylyltransferase and 5'-phosphatase) Homo sapiens
Analyze
Symbol: RNGTT
Name: RNA guanylyltransferase and 5'-phosphatase
RGD ID: 1322859
HGNC Page HGNC
Description: Exhibits mRNA guanylyltransferase activity and triphosphatase activity. Involved in 7-methylguanosine mRNA capping. Predicted to localize to nucleoplasm; PARTICIPATES IN 5'-end pre-mRNA capping pathway; mRNA decay pathway; RNA polymerase II transcription elongation pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-hydroxypropanoic acid; 2-methylcholine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CAP1A; DKFZp686J2031; hCAP; HCAP1; HCE; HCE1; mRNA-capping enzyme
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RNGTTP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl688,609,897 - 88,963,618 (-)EnsemblGRCh38hg38GRCh38
GRCh38688,609,897 - 88,963,618 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37689,319,988 - 89,673,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36689,376,708 - 89,730,067 (-)NCBINCBI36hg18NCBI36
Build 34689,376,717 - 89,730,023NCBI
Celera689,737,906 - 90,091,236 (-)NCBI
Cytogenetic Map6q15NCBI
HuRef686,535,387 - 86,889,057 (-)NCBIHuRef
CHM1_1689,417,380 - 89,771,218 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (TAS)
nucleus  (TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9371772   PMID:9473487   PMID:9512541   PMID:9705270   PMID:9790902   PMID:9828141   PMID:10421630   PMID:11278368   PMID:12408826   PMID:12477932   PMID:14569024   PMID:15342556  
PMID:17081983   PMID:17314511   PMID:19380743   PMID:20339536   PMID:20379614   PMID:21636784   PMID:21873635   PMID:22589738   PMID:22990118   PMID:23349942   PMID:23667531   PMID:24330569  
PMID:25137142   PMID:25476789   PMID:25921289   PMID:26186194   PMID:26350902   PMID:26949251   PMID:27173435   PMID:27432908   PMID:27545878   PMID:27637333   PMID:27756891   PMID:27880917  
PMID:28514442   PMID:28675297   PMID:29117863   PMID:29229926   PMID:29395067   PMID:29509190   PMID:29656893   PMID:29676528   PMID:30033366   PMID:31091453   PMID:31240132   PMID:31527615  
PMID:31980649   PMID:32296183   PMID:33001583  


Genomics

Comparative Map Data
RNGTT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl688,609,897 - 88,963,618 (-)EnsemblGRCh38hg38GRCh38
GRCh38688,609,897 - 88,963,618 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37689,319,988 - 89,673,440 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36689,376,708 - 89,730,067 (-)NCBINCBI36hg18NCBI36
Build 34689,376,717 - 89,730,023NCBI
Celera689,737,906 - 90,091,236 (-)NCBI
Cytogenetic Map6q15NCBI
HuRef686,535,387 - 86,889,057 (-)NCBIHuRef
CHM1_1689,417,380 - 89,771,218 (-)NCBICHM1_1
Rngtt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39433,310,300 - 33,502,614 (+)NCBIGRCm39mm39
GRCm38433,310,300 - 33,502,614 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl433,310,311 - 33,502,614 (+)EnsemblGRCm38mm10GRCm38
MGSCv37433,397,286 - 33,589,585 (+)NCBIGRCm37mm9NCBIm37
MGSCv36433,639,043 - 33,831,223 (+)NCBImm8
Celera433,062,022 - 33,255,229 (+)NCBICelera
Cytogenetic Map4A5NCBI
Rngtt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0548,561,325 - 48,779,214 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl548,561,339 - 48,779,207 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0553,143,335 - 53,362,344 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4549,605,150 - 49,811,502 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1549,605,435 - 49,809,750 (+)NCBI
Celera546,464,963 - 46,671,822 (+)NCBICelera
Cytogenetic Map5q21NCBI
Rngtt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541115,486,303 - 15,766,864 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541115,486,532 - 15,766,880 (-)NCBIChiLan1.0ChiLan1.0
RNGTT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1689,761,712 - 90,118,184 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl689,761,712 - 90,118,184 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0686,490,725 - 86,841,421 (-)NCBIMhudiblu_PPA_v0panPan3
RNGTT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1247,946,561 - 48,275,969 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11247,944,600 - 48,306,789 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Rngtt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365103,186,552 - 3,405,862 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNGTT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl156,852,863 - 57,061,972 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1156,852,864 - 57,061,985 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2163,571,851 - 63,750,208 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RNGTT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11313,053,741 - 13,386,479 (-)NCBI
ChlSab1.1 Ensembl1313,053,405 - 13,386,481 (-)Ensembl
Rngtt
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247995,225,293 - 5,553,957 (+)NCBI

Position Markers
D6S2152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,408,942 - 89,409,112UniSTSGRCh37
Build 36689,465,661 - 89,465,831RGDNCBI36
Celera689,826,850 - 89,827,020RGD
Cytogenetic Map6q16UniSTS
HuRef686,624,345 - 86,624,515UniSTS
Stanford-G3 RH Map63794.0UniSTS
NCBI RH Map61249.5UniSTS
SHGC-79830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,429,844 - 89,430,135UniSTSGRCh37
Build 36689,486,563 - 89,486,854RGDNCBI36
Celera689,847,752 - 89,848,043RGD
Cytogenetic Map6q16UniSTS
HuRef686,645,368 - 86,645,659UniSTS
TNG Radiation Hybrid Map641859.0UniSTS
SHGC-83877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,359,807 - 89,360,084UniSTSGRCh37
Build 36689,416,526 - 89,416,803RGDNCBI36
Celera689,777,719 - 89,777,996RGD
Cytogenetic Map6q16UniSTS
HuRef686,575,210 - 86,575,487UniSTS
TNG Radiation Hybrid Map641873.0UniSTS
SHGC-79173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,414,400 - 89,414,699UniSTSGRCh37
Build 36689,471,119 - 89,471,418RGDNCBI36
Celera689,832,308 - 89,832,607RGD
Cytogenetic Map6q16UniSTS
HuRef686,629,912 - 86,630,220UniSTS
TNG Radiation Hybrid Map641866.0UniSTS
SHGC-132166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,408,931 - 89,409,121UniSTSGRCh37
Build 36689,465,650 - 89,465,840RGDNCBI36
Celera689,826,839 - 89,827,029RGD
Cytogenetic Map6q16UniSTS
HuRef686,624,334 - 86,624,524UniSTS
TNG Radiation Hybrid Map641866.0UniSTS
REN81954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372134,036,757 - 34,037,011UniSTSGRCh37
GRCh37689,380,356 - 89,380,613UniSTSGRCh37
Build 36689,437,075 - 89,437,332RGDNCBI36
Celera689,798,269 - 89,798,526RGD
Celera2119,220,387 - 19,220,646UniSTS
HuRef686,595,761 - 86,596,018UniSTS
HuRef1102,962,021 - 102,962,277UniSTS
HuRef2119,446,130 - 19,446,389UniSTS
HuRef1102,953,602 - 102,953,857UniSTS
D6S1185E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,320,105 - 89,320,237UniSTSGRCh37
Build 36689,376,824 - 89,376,956RGDNCBI36
Celera689,738,022 - 89,738,154RGD
Cytogenetic Map6q16UniSTS
HuRef686,535,503 - 86,535,635UniSTS
GeneMap99-GB4 RH Map6383.95UniSTS
D6S993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,560,578 - 89,560,820UniSTSGRCh37
Build 36689,617,297 - 89,617,539RGDNCBI36
Celera689,978,472 - 89,978,714RGD
Cytogenetic Map6q16UniSTS
HuRef686,776,113 - 86,776,355UniSTS
RH48379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37689,470,616 - 89,470,841UniSTSGRCh37
Build 36689,527,335 - 89,527,560RGDNCBI36
Celera689,888,529 - 89,888,754RGD
Cytogenetic Map6q16UniSTS
HuRef686,686,105 - 86,686,327UniSTS
GeneMap99-GB4 RH Map6384.5UniSTS
NCBI RH Map61202.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1873
Count of miRNA genes:689
Interacting mature miRNAs:769
Transcripts:ENST00000265607, ENST00000369475, ENST00000369485, ENST00000538899
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 392 993 315 65 995 68 1506 179 1106 153 858 504 15 1 174 1009 5 1
Low 2047 1973 1411 559 944 397 2851 2005 2627 266 602 1109 160 1030 1779 1 1
Below cutoff 25 12 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_942617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB009022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB009023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB009024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB012143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI193199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP256840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP396964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369475   ⟹   ENSP00000358487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl688,612,719 - 88,963,409 (-)Ensembl
RefSeq Acc Id: ENST00000369485   ⟹   ENSP00000358497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl688,609,897 - 88,963,618 (-)Ensembl
RefSeq Acc Id: ENST00000538899   ⟹   ENSP00000442609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl688,769,770 - 88,963,409 (-)Ensembl
RefSeq Acc Id: ENST00000627296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl688,677,994 - 88,963,561 (-)Ensembl
RefSeq Acc Id: NM_001286426   ⟹   NP_001273355
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,609,897 - 88,963,618 (-)NCBI
HuRef686,535,014 - 86,889,057 (-)NCBI
CHM1_1689,417,380 - 89,771,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286428   ⟹   NP_001273357
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,609,897 - 88,963,618 (-)NCBI
HuRef686,535,014 - 86,889,057 (-)NCBI
CHM1_1689,417,380 - 89,771,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003800   ⟹   NP_003791
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,609,897 - 88,963,618 (-)NCBI
GRCh37689,319,988 - 89,673,440 (-)NCBI
Build 36689,376,708 - 89,730,067 (-)NCBI Archive
Celera689,737,906 - 90,091,236 (-)RGD
HuRef686,535,014 - 86,889,057 (-)NCBI
CHM1_1689,417,380 - 89,771,218 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011401   ⟹   XP_016866890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,610,272 - 88,963,599 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011402   ⟹   XP_016866891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,632,613 - 88,963,599 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001743703
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,610,272 - 88,963,599 (-)NCBI
Sequence:
RefSeq Acc Id: XR_942617
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,610,272 - 88,963,599 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003791   ⟸   NM_003800
- Peptide Label: isoform a
- UniProtKB: O60942 (UniProtKB/Swiss-Prot),   Q7Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273357   ⟸   NM_001286428
- Peptide Label: isoform c
- UniProtKB: O60942 (UniProtKB/Swiss-Prot),   B4DSJ8 (UniProtKB/TrEMBL),   Q7Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273355   ⟸   NM_001286426
- Peptide Label: isoform b
- UniProtKB: O60942 (UniProtKB/Swiss-Prot),   Q7Z3R6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866890   ⟸   XM_017011401
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016866891   ⟸   XM_017011402
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000442609   ⟸   ENST00000538899
RefSeq Acc Id: ENSP00000358497   ⟸   ENST00000369485
RefSeq Acc Id: ENSP00000358487   ⟸   ENST00000369475
Protein Domains
mRNA_cap_C   TYR_PHOSPHATASE_2

Promoters
RGD ID:7208671
Promoter ID:EPDNEW_H10082
Type:initiation region
Name:RNGTT_1
Description:RNA guanylyltransferase and 5'-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,963,618 - 88,963,678EPDNEW
RGD ID:7208677
Promoter ID:EPDNEW_H10083
Type:initiation region
Name:RNGTT_2
Description:RNA guanylyltransferase and 5'-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10082  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38688,963,799 - 88,963,859EPDNEW
RGD ID:6804621
Promoter ID:HG_KWN:54326
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000265607,   OTTHUMT00000041469,   UC003PMT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36689,729,746 - 89,730,246 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
NM_001286426.1(RNGTT):c.1437+21543G>T single nucleotide variant Lung cancer [RCV000097250] Chr6:88656810 [GRCh38]
Chr6:89366529 [GRCh37]
Chr6:6q15		 uncertain significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 copy number loss See cases [RCV000135450] Chr6:85804273..93189258 [GRCh38]
Chr6:86513991..93898976 [GRCh37]
Chr6:86570710..93955697 [NCBI36]
Chr6:6q14.3-16.1		 pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 copy number loss not provided [RCV000848967] Chr6:87627836..93698486 [GRCh37]
Chr6:6q14.3-16.1		 uncertain significance
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 copy number gain not provided [RCV000849950] Chr6:88783642..96282103 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 copy number loss not provided [RCV001005826] Chr6:86024761..90023713 [GRCh37]
Chr6:6q14.3-15		 pathogenic
GRCh37/hg19 6q15(chr6:89304572-89650242)x3 copy number gain not provided [RCV001005829] Chr6:89304572..89650242 [GRCh37]
Chr6:6q15		 likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10073 AgrOrtholog
COSMIC RNGTT COSMIC
Ensembl Genes ENSG00000111880 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000358487 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000358497 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442609 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000369485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000538899 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111880 GTEx
HGNC ID HGNC:10073 ENTREZGENE
Human Proteome Map RNGTT Human Proteome Map
InterPro Dual-sp_phosphatase_cat-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mRNA_cap_enz_bifunc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mRNA_cap_enzyme UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mRNA_cap_enzyme_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8732 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8732 ENTREZGENE
OMIM 603512 OMIM
Pfam DSPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mRNA_cap_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mRNA_cap_enzyme UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34446 PharmGKB
PIRSF mRNA_capping_HCE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_DUAL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DSJ8 ENTREZGENE, UniProtKB/TrEMBL
  MCE1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z3R6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary E1P513 UniProtKB/Swiss-Prot
  E1P514 UniProtKB/Swiss-Prot
  O43483 UniProtKB/Swiss-Prot
  O60257 UniProtKB/Swiss-Prot
  O60351 UniProtKB/Swiss-Prot
  Q5TCW8 UniProtKB/Swiss-Prot
  Q8WUM8 UniProtKB/Swiss-Prot