JRK (Jrk helix-turn-helix protein) - Rat Genome Database

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Gene: JRK (Jrk helix-turn-helix protein) Homo sapiens
Analyze
Symbol: JRK
Name: Jrk helix-turn-helix protein
RGD ID: 1314867
HGNC Page HGNC
Description: Predicted to have DNA binding activity. Involved in positive regulation of canonical Wnt signaling pathway. Predicted to localize to nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686C24207; FLJ45729; jerky; jerky homolog; jerky protein homolog; JH8; Jrk homolog
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 Ensembl8142,657,460 - 142,681,968 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,651,501 - 142,669,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,738,874 - 143,751,385 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,735,876 - 143,748,403 (-)NCBINCBI36hg18NCBI36
Build 348143,740,949 - 143,744,929NCBI
Celera8140,050,845 - 140,059,905 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,992,044 - 139,001,104 (-)NCBIHuRef
CHM1_18143,779,121 - 143,791,657 (-)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

References

Additional References at PubMed
PMID:9675132   PMID:10510981   PMID:11463517   PMID:12477932   PMID:14702039   PMID:16344560   PMID:20379614   PMID:21399610   PMID:21873635   PMID:23824909   PMID:26455321   PMID:26949251  
PMID:28514442   PMID:28708826   PMID:31452512   PMID:32296183   PMID:33060197  


Genomics

Comparative Map Data
JRK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,657,460 - 142,681,968 (-)EnsemblGRCh38hg38GRCh38
GRCh388142,651,501 - 142,669,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,738,874 - 143,751,385 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,735,876 - 143,748,403 (-)NCBINCBI36hg18NCBI36
Build 348143,740,949 - 143,744,929NCBI
Celera8140,050,845 - 140,059,905 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8138,992,044 - 139,001,104 (-)NCBIHuRef
CHM1_18143,779,121 - 143,791,657 (-)NCBICHM1_1
Jrk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,574,261 - 74,581,171 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,574,150 - 74,581,384 (-)Ensembl
GRCm381574,702,412 - 74,709,322 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,702,301 - 74,709,535 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,534,993 - 74,539,752 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,529,667 - 74,536,552 (-)NCBImm8
Celera1576,209,504 - 76,214,263 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.26NCBI
Jrk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,590,662 - 106,595,345 (-)NCBI
Rnor_6.0 Ensembl7115,942,743 - 115,946,425 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07115,941,788 - 115,946,471 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,847,177 - 115,851,860 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,819,393 - 112,824,076 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,854,824 - 112,856,507 (-)NCBI
Celera7102,991,917 - 102,996,601 (-)NCBICelera
Cytogenetic Map7q34NCBI
Jrk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,415,811 - 1,423,705 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,415,811 - 1,423,705 (-)NCBIChiLan1.0ChiLan1.0
JRK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,413,460 - 142,426,103 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,413,460 - 142,426,103 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,362,543 - 139,382,226 (-)NCBIMhudiblu_PPA_v0panPan3
JRK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,754,771 - 36,767,799 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,630,944 - 36,643,847 (-)NCBI
ROS_Cfam_1.01337,158,359 - 37,171,264 (-)NCBI
UMICH_Zoey_3.11336,877,100 - 36,889,991 (-)NCBI
UNSW_CanFamBas_1.01336,966,754 - 36,979,634 (-)NCBI
UU_Cfam_GSD_1.01337,388,827 - 37,401,705 (-)NCBI
Jrk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,717,563 - 1,729,698 (+)NCBI
SpeTri2.0NW_0049364709,152,417 - 9,155,797 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JRK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,490,800 - 1,492,356 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,476,298 - 1,493,597 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
JRK
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,896,858 - 136,916,951 (-)NCBI
ChlSab1.1 Ensembl8136,911,217 - 136,912,923 (-)Ensembl
Jrk
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,923,296 - 13,931,788 (+)NCBI

Position Markers
D8S1836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,750,503 - 143,750,653UniSTSGRCh37
Build 368143,747,505 - 143,747,655RGDNCBI36
Cytogenetic Map8q24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Marshfield Genetic Map8165.93RGD
Marshfield Genetic Map8165.93UniSTS
Genethon Genetic Map8166.4UniSTS
TNG Radiation Hybrid Map871035.0UniSTS
deCODE Assembly Map8163.38UniSTS
GeneMap99-GB4 RH Map8552.63UniSTS
D8S1751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,748,771 - 143,748,927UniSTSGRCh37
Build 368143,745,773 - 143,745,929RGDNCBI36
Celera8140,060,738 - 140,060,893RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,001,937 - 139,002,089UniSTS
Marshfield Genetic Map8165.93RGD
Marshfield Genetic Map8165.93UniSTS
Genethon Genetic Map8165.0UniSTS
TNG Radiation Hybrid Map871041.0UniSTS
STS-T03654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,739,934 - 143,740,175UniSTSGRCh37
Build 368143,736,936 - 143,737,177RGDNCBI36
Celera8140,051,907 - 140,052,148RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,993,106 - 138,993,347UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS
JRK__6494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,744,787 - 143,745,577UniSTSGRCh37
Build 368143,741,789 - 143,742,579RGDNCBI36
Celera8140,056,755 - 140,057,545RGD
HuRef8138,997,954 - 138,998,744UniSTS
STS-F01571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,739,980 - 143,740,068UniSTSGRCh37
Build 368143,736,982 - 143,737,070RGDNCBI36
Celera8140,051,953 - 140,052,041RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,993,152 - 138,993,240UniSTS
GeneMap99-GB4 RH Map8322.21UniSTS
NCBI RH Map8795.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2585
Count of miRNA genes:894
Interacting mature miRNAs:1068
Transcripts:ENST00000422119, ENST00000503272, ENST00000506774, ENST00000507178, ENST00000512113, ENST00000585503, ENST00000587499, ENST00000587883, ENST00000591180, ENST00000591357
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 158 21 258 26 542 29 288 79 534 68 502 397 9 5 107
Low 2280 2862 1447 578 1308 416 4066 2110 3193 351 958 1216 166 1 1199 2680 6 2
Below cutoff 1 108 21 20 100 20 2 8 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001279352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB083591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000503272   ⟹   ENSP00000482585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,665,982 - 142,669,988 (-)Ensembl
RefSeq Acc Id: ENST00000506774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,659,298 - 142,663,522 (-)Ensembl
RefSeq Acc Id: ENST00000571961   ⟹   ENSP00000461610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,658,364 - 142,669,994 (-)Ensembl
RefSeq Acc Id: ENST00000585503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,679,974 - 142,681,968 (-)Ensembl
RefSeq Acc Id: ENST00000587499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,680,146 - 142,681,804 (-)Ensembl
RefSeq Acc Id: ENST00000587883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,675,899 - 142,681,968 (-)Ensembl
RefSeq Acc Id: ENST00000591180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,675,899 - 142,681,834 (-)Ensembl
RefSeq Acc Id: ENST00000591357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,666,415 - 142,681,968 (-)Ensembl
RefSeq Acc Id: ENST00000612905   ⟹   ENSP00000482410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,657,460 - 142,669,967 (-)Ensembl
RefSeq Acc Id: ENST00000614134   ⟹   ENSP00000485390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,657,460 - 142,666,520 (-)Ensembl
RefSeq Acc Id: ENST00000615982   ⟹   ENSP00000483808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,657,463 - 142,669,970 (-)Ensembl
RefSeq Acc Id: NM_001077527   ⟹   NP_001070995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,657,460 - 142,669,967 (-)NCBI
GRCh378143,738,874 - 143,751,412 (-)NCBI
Build 368143,735,876 - 143,748,403 (-)NCBI Archive
Celera8140,050,845 - 140,059,905 (-)RGD
HuRef8138,992,044 - 139,001,104 (-)ENTREZGENE
CHM1_18143,779,121 - 143,791,657 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001279352   ⟹   NP_001266281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,657,460 - 142,669,967 (-)NCBI
HuRef8138,992,044 - 139,001,104 (-)NCBI
CHM1_18143,779,121 - 143,791,657 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003724   ⟹   NP_003715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,657,460 - 142,669,967 (-)NCBI
GRCh378143,738,874 - 143,751,412 (-)NCBI
Build 368143,735,876 - 143,748,403 (-)NCBI Archive
Celera8140,050,845 - 140,059,905 (-)RGD
HuRef8138,992,044 - 139,001,104 (-)ENTREZGENE
CHM1_18143,779,121 - 143,791,657 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716677   ⟹   XP_006716740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,656,255 - 142,668,859 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716678   ⟹   XP_006716741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,656,255 - 142,668,209 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517354   ⟹   XP_011515656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,651,501 - 142,669,983 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517355   ⟹   XP_011515657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,651,501 - 142,669,983 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003715   ⟸   NM_003724
- Peptide Label: isoform a
- UniProtKB: Q86XJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070995   ⟸   NM_001077527
- Peptide Label: isoform b
- UniProtKB: D3DWI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001266281   ⟸   NM_001279352
- Peptide Label: isoform b
- UniProtKB: D3DWI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716740   ⟸   XM_006716677
- Peptide Label: isoform X1
- UniProtKB: Q86XJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716741   ⟸   XM_006716678
- Peptide Label: isoform X1
- UniProtKB: Q86XJ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515657   ⟸   XM_011517355
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515656   ⟸   XM_011517354
- Peptide Label: isoform X2
- UniProtKB: D3DWI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000482585   ⟸   ENST00000503272
RefSeq Acc Id: ENSP00000461610   ⟸   ENST00000571961
RefSeq Acc Id: ENSP00000482410   ⟸   ENST00000612905
RefSeq Acc Id: ENSP00000485390   ⟸   ENST00000614134
RefSeq Acc Id: ENSP00000483808   ⟸   ENST00000615982
Protein Domains
DDE-1   HTH CENPB-type   HTH psq-type

Promoters
RGD ID:7214279
Promoter ID:EPDNEW_H12886
Type:initiation region
Name:JRK_1
Description:Jrk helix-turn-helix protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12890  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,669,967 - 142,670,027EPDNEW
RGD ID:6815653
Promoter ID:HG_MRA:16119
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:AB209002,   BC036794,   CR627103
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,742,746 - 143,743,246 (-)MPROMDB
RGD ID:6806861
Promoter ID:HG_KWN:62229
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001077527,   NM_003724,   NR_033343,   UC003YWO.1,   UC003YWP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368143,747,526 - 143,748,487 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003724.4(JRK):c.471C>T (p.Ala157=) single nucleotide variant not provided [RCV000884324] Chr8:142665588 [GRCh38]
Chr8:143747007 [GRCh37]
Chr8:8q24.3
likely benign
NM_003724.4(JRK):c.486G>C (p.Ala162=) single nucleotide variant not provided [RCV000948811] Chr8:142665573 [GRCh38]
Chr8:143746992 [GRCh37]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.1382_1383= (p.Val461=) variation not provided [RCV000947142] Chr8:142664676..142664677 [GRCh38]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.207C>G (p.Ser69=) single nucleotide variant not provided [RCV000948195] Chr8:142665852 [GRCh38]
Chr8:143747271 [GRCh37]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV000948347] Chr8:142664652 [GRCh38]
Chr8:143746069 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003724.4(JRK):c.1426A>G (p.Arg476Gly) single nucleotide variant not provided [RCV000948346] Chr8:142664633 [GRCh38]
Chr8:143746050 [GRCh37]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.1062C>T (p.His354=) single nucleotide variant not provided [RCV000948348] Chr8:142664997 [GRCh38]
Chr8:143746416 [GRCh37]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.777C>T (p.Asn259=) single nucleotide variant not provided [RCV000948349] Chr8:142665282 [GRCh38]
Chr8:143746701 [GRCh37]
Chr8:8q24.3
benign
NM_003724.4(JRK):c.1508G>A (p.Arg503Gln) single nucleotide variant not provided [RCV000960265] Chr8:142664551 [GRCh38]
Chr8:143745968 [GRCh37]
Chr8:8q24.3
benign
NM_005672.5(PSCA):c.-26C>T single nucleotide variant not provided [RCV000874560] Chr8:142680513 [GRCh38]
Chr8:143761931 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_003724.4(JRK):c.1527G>A (p.Ala509=) single nucleotide variant not provided [RCV000887421] Chr8:142664532 [GRCh38]
Chr8:143745949 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6199 AgrOrtholog
COSMIC JRK COSMIC
Ensembl Genes ENSG00000234616 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000461610 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482410 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482585 UniProtKB/TrEMBL
  ENSP00000483808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000485390 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000503272 UniProtKB/TrEMBL
  ENST00000571961 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000612905 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614134 UniProtKB/Swiss-Prot
  ENST00000615982 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000234616 GTEx
HGNC ID HGNC:6199 ENTREZGENE
Human Proteome Map JRK Human Proteome Map
InterPro DDE_SF_endonuclease_dom UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  HTH_CenpB_DNA-bd_dom UniProtKB/Swiss-Prot
  HTH_Psq UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:8629 UniProtKB/Swiss-Prot
NCBI Gene 8629 ENTREZGENE
OMIM 603210 OMIM
Pfam CENP-B_N UniProtKB/Swiss-Prot
  DDE_1 UniProtKB/Swiss-Prot
  HTH_Tnp_Tc5 UniProtKB/Swiss-Prot
PharmGKB PA30001 PharmGKB
PROSITE HTH_CENPB UniProtKB/Swiss-Prot
  HTH_PSQ UniProtKB/Swiss-Prot
SMART CENPB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt A0A087WZD9_HUMAN UniProtKB/TrEMBL
  D3DWI5 ENTREZGENE
  JERKY_HUMAN UniProtKB/Swiss-Prot
  L0R881_HUMAN UniProtKB/TrEMBL
  O75564 ENTREZGENE
  Q86XJ5 ENTREZGENE
UniProt Secondary D3DWI5 UniProtKB/Swiss-Prot
  O75565 UniProtKB/Swiss-Prot
  Q86XJ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-23 JRK  Jrk helix-turn-helix protein    Jrk homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2014-04-09 JRK  Jrk homolog (mouse)    jerky homolog (mouse)  Symbol and/or name change 5135510 APPROVED
2011-09-01 JRK  jerky homolog (mouse)  JRK  jerky homolog (mouse)  Symbol and/or name change 5135510 APPROVED