KCNRG (potassium channel regulator) - Rat Genome Database

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Gene: KCNRG (potassium channel regulator) Homo sapiens
Analyze
Symbol: KCNRG
Name: potassium channel regulator
RGD ID: 1316250
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in negative regulation of delayed rectifier potassium channel activity. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DLTET; potassium channel regulatory protein; putative potassium channel regulatory protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh38.p13 Ensembl1350,015,254 - 50,020,922 (+)EnsemblGRCh38hg38GRCh38
GRCh381350,015,444 - 50,020,922 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371350,589,580 - 50,595,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361349,487,391 - 49,493,059 (+)NCBINCBI36hg18NCBI36
Build 341349,487,390 - 49,493,059NCBI
Celera1331,644,032 - 31,649,698 (+)NCBI
Cytogenetic Map13q14.2NCBI
HuRef1331,384,465 - 31,390,131 (+)NCBIHuRef
CHM1_11350,557,221 - 50,562,888 (+)NCBICHM1_1
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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12650944   PMID:14702039   PMID:15188451   PMID:15489334   PMID:16189514   PMID:16499869   PMID:16819283   PMID:18029348   PMID:19251657   PMID:19447967   PMID:19968958  
PMID:20237900   PMID:21873635   PMID:25416956   PMID:32296183  


Genomics

Comparative Map Data
KCNRG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1350,015,254 - 50,020,922 (+)EnsemblGRCh38hg38GRCh38
GRCh381350,015,444 - 50,020,922 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371350,589,580 - 50,595,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361349,487,391 - 49,493,059 (+)NCBINCBI36hg18NCBI36
Build 341349,487,390 - 49,493,059NCBI
Celera1331,644,032 - 31,649,698 (+)NCBI
Cytogenetic Map13q14.2NCBI
HuRef1331,384,465 - 31,390,131 (+)NCBIHuRef
CHM1_11350,557,221 - 50,562,888 (+)NCBICHM1_1
Kcnrg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391461,844,906 - 61,850,282 (+)NCBIGRCm39mm39
GRCm39 Ensembl1461,844,906 - 61,850,275 (+)Ensembl
GRCm381461,607,457 - 61,612,833 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1461,607,457 - 61,612,826 (+)EnsemblGRCm38mm10GRCm38
MGSCv371462,226,294 - 62,231,670 (+)NCBIGRCm37mm9NCBIm37
MGSCv361460,561,567 - 60,566,943 (+)NCBImm8
Celera1459,374,897 - 59,380,323 (+)NCBICelera
Cytogenetic Map14D1NCBI
Kcnrg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21535,774,492 - 35,778,818 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1535,774,326 - 35,779,415 (+)Ensembl
Rnor_6.01541,937,880 - 41,942,205 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1541,937,880 - 41,942,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01545,738,076 - 45,742,401 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41540,754,299 - 40,758,625 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11540,769,998 - 40,852,621 (+)NCBI
Celera1535,469,851 - 35,474,175 (+)NCBICelera
Cytogenetic Map15p12NCBI
Kcnrg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554313,395,920 - 3,402,494 (+)NCBIChiLan1.0ChiLan1.0
KCNRG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11349,901,696 - 49,908,169 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1349,901,696 - 49,908,169 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01331,154,531 - 31,161,081 (+)NCBIMhudiblu_PPA_v0panPan3
KCNRG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1221,870,964 - 1,875,849 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha221,897,328 - 1,905,449 (-)NCBI
ROS_Cfam_1.0221,857,800 - 1,865,935 (-)NCBI
UMICH_Zoey_3.1221,767,852 - 1,775,966 (-)NCBI
UNSW_CanFamBas_1.0221,816,987 - 1,825,094 (-)NCBI
UU_Cfam_GSD_1.0221,835,448 - 1,843,572 (-)NCBI
Kcnrg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945159,507,452 - 159,514,004 (+)NCBI
SpeTri2.0NW_0049365652,991,568 - 2,997,592 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNRG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1117,784,996 - 17,793,804 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11117,784,243 - 17,796,826 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KCNRG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1327,926,469 - 27,932,895 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605715,942,335 - 15,947,803 (-)NCBIVero_WHO_p1.0
Kcnrg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247484,674,722 - 4,683,255 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH44787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,590,416 - 50,590,527UniSTSGRCh37
Build 361349,488,417 - 49,488,528RGDNCBI36
Celera1331,645,058 - 31,645,169RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map13q14.2UniSTS
HuRef1331,385,491 - 31,385,602UniSTS
GeneMap99-GB4 RH Map13155.33UniSTS
SHGC-57506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,594,742 - 50,595,002UniSTSGRCh37
Build 361349,492,743 - 49,493,003RGDNCBI36
Celera1331,649,382 - 31,649,642RGD
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map13q14.3UniSTS
HuRef1331,389,815 - 31,390,075UniSTS
D13S1476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,588,641 - 50,588,772UniSTSGRCh37
Build 361349,486,642 - 49,486,773RGDNCBI36
Celera1331,643,300 - 31,643,431RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map13q14.2UniSTS
HuRef1331,383,731 - 31,383,862UniSTS
RH45034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,588,162 - 50,588,384UniSTSGRCh37
Build 361349,486,163 - 49,486,385RGDNCBI36
Celera1331,642,821 - 31,643,043RGD
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map13q14.2UniSTS
HuRef1331,383,238 - 31,383,460UniSTS
GeneMap99-GB4 RH Map13155.33UniSTS
NCBI RH Map13490.9UniSTS
KCNRG__6503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371350,594,545 - 50,595,077UniSTSGRCh37
Build 361349,492,546 - 49,493,078RGDNCBI36
Celera1331,649,185 - 31,649,717RGD
HuRef1331,389,618 - 31,390,150UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:452
Count of miRNA genes:244
Interacting mature miRNAs:252
Transcripts:ENST00000312942, ENST00000360473
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 1 1 104 58 1
Low 2128 1776 1216 247 1242 118 3692 1370 2562 254 1216 1348 136 1028 2276 1
Below cutoff 295 1128 482 354 620 326 623 769 1102 162 127 195 33 165 478 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000312942   ⟹   ENSP00000324191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1350,015,444 - 50,020,922 (+)Ensembl
RefSeq Acc Id: ENST00000360473   ⟹   ENSP00000353661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1350,015,254 - 50,020,920 (+)Ensembl
RefSeq Acc Id: NM_173605   ⟹   NP_775876
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381350,015,444 - 50,020,922 (+)NCBI
GRCh371350,589,390 - 50,595,058 (+)ENTREZGENE
Build 361349,487,391 - 49,493,059 (+)NCBI Archive
HuRef1331,384,465 - 31,390,131 (+)ENTREZGENE
CHM1_11350,557,221 - 50,562,888 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199464   ⟹   NP_955751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381350,015,444 - 50,020,922 (+)NCBI
GRCh371350,589,390 - 50,595,058 (+)ENTREZGENE
Build 361349,487,391 - 49,493,059 (+)NCBI Archive
HuRef1331,384,465 - 31,390,131 (+)ENTREZGENE
CHM1_11350,557,221 - 50,562,888 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_955751   ⟸   NM_199464
- Peptide Label: isoform 2
- UniProtKB: Q8N5I3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_775876   ⟸   NM_173605
- Peptide Label: isoform 1
- UniProtKB: Q8N5I3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000353661   ⟸   ENST00000360473
RefSeq Acc Id: ENSP00000324191   ⟸   ENST00000312942
Protein Domains
BTB

Promoters
RGD ID:6790919
Promoter ID:HG_KWN:17884
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_173605,   NM_199464
Position:
Human AssemblyChrPosition (strand)Source
Build 361349,486,691 - 49,487,842 (+)MPROMDB
RGD ID:7226471
Promoter ID:EPDNEW_H18981
Type:initiation region
Name:KCNRG_2
Description:potassium channel regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18976  EPDNEW_H18978  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381350,015,531 - 50,015,591EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 copy number loss See cases [RCV000136624] Chr13:48307302..50927473 [GRCh38]
Chr13:48881438..51501609 [GRCh37]
Chr13:47779439..50399610 [NCBI36]
Chr13:13q14.2-14.3
pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.2(chr13:48591738-50064488)x3 copy number gain See cases [RCV000143577] Chr13:48591738..50064488 [GRCh38]
Chr13:49165874..50638624 [GRCh37]
Chr13:48063875..49536625 [NCBI36]
Chr13:13q14.2
uncertain significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 copy number loss See cases [RCV000448535] Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 copy number loss See cases [RCV000511479] Chr13:47312129..51342279 [GRCh37]
Chr13:13q14.2-14.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2
pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2(chr13:50464624-50699452)x1 copy number loss not provided [RCV000750714] Chr13:50464624..50699452 [GRCh37]
Chr13:13q14.2
benign
GRCh37/hg19 13q14.2(chr13:50578022-50728452)x3 copy number gain not provided [RCV000750715] Chr13:50578022..50728452 [GRCh37]
Chr13:13q14.2
benign
GRCh37/hg19 13q14.2(chr13:50494451-50665381)x3 copy number gain not provided [RCV000847204] Chr13:50494451..50665381 [GRCh37]
Chr13:13q14.2
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2
uncertain significance
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18893 AgrOrtholog
COSMIC KCNRG COSMIC
Ensembl Genes ENSG00000198553 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000324191 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353661 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000312942 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360473 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.710.10 UniProtKB/Swiss-Prot
GTEx ENSG00000198553 GTEx
HGNC ID HGNC:18893 ENTREZGENE
Human Proteome Map KCNRG Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  T1-type_BTB UniProtKB/Swiss-Prot
KEGG Report hsa:283518 UniProtKB/Swiss-Prot
NCBI Gene 283518 ENTREZGENE
OMIM 607947 OMIM
Pfam BTB_2 UniProtKB/Swiss-Prot
PharmGKB PA134924183 PharmGKB
SMART BTB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
UniProt KCNRG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2A2X9 UniProtKB/Swiss-Prot
  Q0P6D0 UniProtKB/Swiss-Prot
  Q8IU75 UniProtKB/Swiss-Prot
  Q8N3Q9 UniProtKB/Swiss-Prot