LONRF1 (LON peptidase N-terminal domain and ring finger 1) - Rat Genome Database

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Gene: LONRF1 (LON peptidase N-terminal domain and ring finger 1) Homo sapiens
Analyze
Symbol: LONRF1
Name: LON peptidase N-terminal domain and ring finger 1
RGD ID: 1605309
HGNC Page HGNC
Description: Predicted to have metal ion binding activity. Predicted to be involved in protein polyubiquitination. Predicted to localize to cytosol; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; arsenite(3-); benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ23749; LON peptidase N-terminal domain and RING finger protein 1; RING finger protein 191; RNF191
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 Ensembl812,721,906 - 12,756,073 (-)EnsemblGRCh38hg38GRCh38
GRCh38812,721,900 - 12,755,526 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37812,579,415 - 12,613,035 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36812,623,777 - 12,657,363 (-)NCBINCBI36hg18NCBI36
Celera811,544,278 - 11,577,192 (-)NCBI
Cytogenetic Map8p23.1NCBI
HuRef811,121,429 - 11,155,007 (-)NCBIHuRef
CHM1_1812,780,588 - 12,814,186 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:18253036   PMID:19028597   PMID:19549727   PMID:21873635   PMID:22493164   PMID:23105109   PMID:24743840   PMID:25277244   PMID:25416956  
PMID:28514442   PMID:29348145   PMID:29892012   PMID:30021884   PMID:30652415   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
LONRF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl812,721,906 - 12,756,073 (-)EnsemblGRCh38hg38GRCh38
GRCh38812,721,900 - 12,755,526 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37812,579,415 - 12,613,035 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36812,623,777 - 12,657,363 (-)NCBINCBI36hg18NCBI36
Celera811,544,278 - 11,577,192 (-)NCBI
Cytogenetic Map8p23.1NCBI
HuRef811,121,429 - 11,155,007 (-)NCBIHuRef
CHM1_1812,780,588 - 12,814,186 (-)NCBICHM1_1
Lonrf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39836,683,216 - 36,716,513 (-)NCBIGRCm39mm39
GRCm39 Ensembl836,683,218 - 36,716,670 (-)Ensembl
GRCm38836,216,062 - 36,249,359 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl836,216,064 - 36,249,516 (-)EnsemblGRCm38mm10GRCm38
MGSCv37837,279,118 - 37,312,570 (-)NCBIGRCm37mm9NCBIm37
MGSCv36837,684,581 - 37,718,033 (-)NCBImm8
MGSCv36835,148,248 - 35,180,441 (-)NCBImm8
Celera838,855,912 - 38,888,822 (-)NCBICelera
Cytogenetic Map8A4NCBI
Lonrf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21655,984,572 - 56,015,156 (+)NCBI
Rnor_6.0 Ensembl1659,564,419 - 59,593,852 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01659,564,548 - 59,594,252 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01659,243,387 - 59,272,649 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41659,651,010 - 59,703,999 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1654,041,326 - 54,070,974 (+)NCBICelera
Cytogenetic Map16q12.2NCBI
Lonrf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554634,282,609 - 4,318,716 (+)NCBIChiLan1.0ChiLan1.0
LONRF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.188,674,290 - 8,695,676 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0811,919,627 - 11,953,249 (-)NCBIMhudiblu_PPA_v0panPan3
LONRF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11636,220,324 - 36,256,896 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1636,221,156 - 36,256,897 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1636,684,042 - 36,721,030 (-)NCBI
ROS_Cfam_1.01638,258,011 - 38,294,928 (-)NCBI
UMICH_Zoey_3.11636,357,057 - 36,393,887 (-)NCBI
UNSW_CanFamBas_1.01636,920,129 - 36,956,908 (-)NCBI
UU_Cfam_GSD_1.01637,039,956 - 37,076,956 (-)NCBI
Lonrf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494342,940,974 - 42,972,894 (+)NCBI
SpeTri2.0NW_0049365732,169,534 - 2,201,456 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LONRF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17883,339 - 917,225 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.117883,980 - 917,221 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.217712,524 - 754,880 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LONRF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1810,804,302 - 10,837,813 (-)NCBI
ChlSab1.1 Ensembl810,805,478 - 10,837,720 (-)Ensembl
Lonrf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248394,247,428 - 4,278,881 (+)NCBI

Position Markers
RH91956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37812,613,199 - 12,613,323UniSTSGRCh37
Build 36812,657,570 - 12,657,694RGDNCBI36
Cytogenetic Map8p23.1UniSTS
HuRef811,155,214 - 11,155,338UniSTS
GeneMap99-GB4 RH Map852.6UniSTS
RH78063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37812,579,506 - 12,579,630UniSTSGRCh37
Build 36812,623,877 - 12,624,001RGDNCBI36
Celera811,544,378 - 11,544,502RGD
Cytogenetic Map8p23.1UniSTS
HuRef811,121,529 - 11,121,653UniSTS
GeneMap99-GB4 RH Map853.23UniSTS
NCBI RH Map8116.8UniSTS
STS-AA007596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37812,602,615 - 12,602,805UniSTSGRCh37
Build 36812,646,986 - 12,647,176RGDNCBI36
Celera811,567,490 - 11,567,680RGD
Cytogenetic Map8p23.1UniSTS
HuRef811,144,637 - 11,144,827UniSTS
GeneMap99-GB4 RH Map851.65UniSTS
D8S12720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37812,580,199 - 12,580,388UniSTSGRCh37
Build 36812,624,570 - 12,624,759RGDNCBI36
Celera811,545,071 - 11,545,260RGD
Cytogenetic Map8p23.1UniSTS
HuRef811,122,222 - 11,122,411UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2169
Count of miRNA genes:856
Interacting mature miRNAs:1007
Transcripts:ENST00000398246, ENST00000524526, ENST00000525024, ENST00000526610, ENST00000526680, ENST00000527055, ENST00000530693, ENST00000533751, ENST00000534446
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 1681 1405 1060 155 999 41 3893 1310 1913 161 1296 1360 115 1141 2361 3 1
Low 754 1547 664 467 914 422 464 885 1821 257 161 253 59 1 63 427 3 1
Below cutoff 3 39 2 2 37 2 2 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA017498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA284268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA732160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC275403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI004802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ718281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000398246   ⟹   ENSP00000381298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,721,906 - 12,755,526 (-)Ensembl
RefSeq Acc Id: ENST00000524526   ⟹   ENSP00000433327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,722,981 - 12,737,095 (-)Ensembl
RefSeq Acc Id: ENST00000525024   ⟹   ENSP00000436770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,722,944 - 12,729,387 (-)Ensembl
RefSeq Acc Id: ENST00000526610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,729,174 - 12,735,626 (-)Ensembl
RefSeq Acc Id: ENST00000526680   ⟹   ENSP00000434090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,721,906 - 12,743,243 (-)Ensembl
RefSeq Acc Id: ENST00000527055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,722,758 - 12,725,998 (-)Ensembl
RefSeq Acc Id: ENST00000530693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,738,029 - 12,756,073 (-)Ensembl
RefSeq Acc Id: ENST00000533751   ⟹   ENSP00000432130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,722,971 - 12,754,342 (-)Ensembl
RefSeq Acc Id: ENST00000534446   ⟹   ENSP00000451692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl812,736,699 - 12,738,766 (-)Ensembl
RefSeq Acc Id: NM_001329976   ⟹   NP_001316905
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,906 - 12,755,526 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152271   ⟹   NP_689484
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,906 - 12,755,526 (-)NCBI
GRCh37812,579,406 - 12,612,992 (-)RGD
Build 36812,623,777 - 12,657,363 (-)NCBI Archive
Celera811,544,278 - 11,577,192 (-)RGD
HuRef811,121,429 - 11,155,007 (-)NCBI
CHM1_1812,780,588 - 12,814,186 (-)NCBI
Sequence:
RefSeq Acc Id: NR_138255
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,906 - 12,755,526 (-)NCBI
Sequence:
RefSeq Acc Id: NR_138256
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,906 - 12,755,526 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544694   ⟹   XP_011542996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,900 - 12,754,448 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956651
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,900 - 12,755,486 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956652
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,721,900 - 12,755,486 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689484   ⟸   NM_152271
- Peptide Label: isoform 1
- UniProtKB: Q17RB8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542996   ⟸   XM_011544694
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316905   ⟸   NM_001329976
- Peptide Label: isoform 2
- UniProtKB: Q17RB8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000381298   ⟸   ENST00000398246
RefSeq Acc Id: ENSP00000432130   ⟸   ENST00000533751
RefSeq Acc Id: ENSP00000451692   ⟸   ENST00000534446
RefSeq Acc Id: ENSP00000433327   ⟸   ENST00000524526
RefSeq Acc Id: ENSP00000436770   ⟸   ENST00000525024
RefSeq Acc Id: ENSP00000434090   ⟸   ENST00000526680
Protein Domains
Lon N-terminal   RING-type

Promoters
RGD ID:6806842
Promoter ID:HG_KWN:60772
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000251693
Position:
Human AssemblyChrPosition (strand)Source
Build 36812,656,601 - 12,657,732 (-)MPROMDB
RGD ID:7212663
Promoter ID:EPDNEW_H12077
Type:initiation region
Name:LONRF1_1
Description:LON peptidase N-terminal domain and ring finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12078  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38812,743,247 - 12,743,307EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12728904-13544286)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052190]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052190]|See cases [RCV000052190] Chr8:12728904..13544286 [GRCh38]
Chr8:12586413..13401795 [GRCh37]
Chr8:12630784..13446166 [NCBI36]
Chr8:8p23.1-22
uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3 copy number gain See cases [RCV000053673] Chr8:12383108..12809999 [GRCh38]
Chr8:12240617..12667508 [GRCh37]
Chr8:12284988..12711879 [NCBI36]
Chr8:8p23.1-22
benign
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 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22
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 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3 copy number gain See cases [RCV000137151] Chr8:12728904..14368722 [GRCh38]
Chr8:12586413..14226231 [GRCh37]
Chr8:12630784..14270602 [NCBI36]
Chr8:8p23.1-22
likely pathogenic|uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
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 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12633363-13767233)x3 copy number gain See cases [RCV000138337] Chr8:12633363..13767233 [GRCh38]
Chr8:12490872..13624742 [GRCh37]
Chr8:12535243..13669113 [NCBI36]
Chr8:8p23.1-22
uncertain significance
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12732530-13130114)x3 copy number gain See cases [RCV000140256] Chr8:12732530..13130114 [GRCh38]
Chr8:12590039..12987623 [GRCh37]
Chr8:12634410..13031994 [NCBI36]
Chr8:8p23.1-22
likely benign
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22
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 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 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-22(chr8:12698495-13381340)x1 copy number loss See cases [RCV000143152] Chr8:12698495..13381340 [GRCh38]
Chr8:12556004..13238849 [GRCh37]
Chr8:12600375..13283220 [NCBI36]
Chr8:8p23.1-22
likely benign
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 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 copy number gain See cases [RCV000240124] Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12580132-13182869)x3 copy number gain See cases [RCV000447504] Chr8:12580132..13182869 [GRCh37]
Chr8:8p23.1-22
likely benign
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 8p23.1-22(chr8:12580132-14293267)x3 copy number gain See cases [RCV000446196] Chr8:12580132..14293267 [GRCh37]
Chr8:8p23.1-22
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12490998-16397340)x3 copy number gain See cases [RCV000448250] Chr8:12490998..16397340 [GRCh37]
Chr8:8p23.1-22
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12552775-12907254)x1 copy number loss See cases [RCV000448070] Chr8:12552775..12907254 [GRCh37]
Chr8:8p23.1-22
likely benign
GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 copy number loss See cases [RCV000510201] Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22
likely pathogenic
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22
likely 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 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
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 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 8p23.1-22(chr8:12490999-14047332)x1 copy number loss See cases [RCV000512469] Chr8:12490999..14047332 [GRCh37]
Chr8:8p23.1-22
uncertain significance
GRCh37/hg19 8p23.1-22(chr8:12549214-13269408)x3 copy number gain not provided [RCV000682998] Chr8:12549214..13269408 [GRCh37]
Chr8:8p23.1-22
uncertain significance
GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 copy number gain not provided [RCV000683039] Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 copy number gain not provided [RCV000683037] Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 copy number gain not provided [RCV000683040] Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3 copy number gain not provided [RCV000709947] Chr8:12559475..13050887 [GRCh37]
Chr8:8p23.1-22
not provided
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
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
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
GRCh37/hg19 8p23.3-22(chr8:194617-13947374) copy number gain not provided [RCV000767676] Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 copy number loss not provided [RCV000847768] Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22
pathogenic
GRCh37/hg19 8p23.1-22(chr8:12490998-13074855)x3 copy number gain not provided [RCV001006076] Chr8:12490998..13074855 [GRCh37]
Chr8:8p23.1-22
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26302 AgrOrtholog
COSMIC LONRF1 COSMIC
Ensembl Genes ENSG00000154359 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000381298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432130 UniProtKB/TrEMBL
  ENSP00000433327 UniProtKB/TrEMBL
  ENSP00000434090 UniProtKB/TrEMBL
  ENSP00000436770 UniProtKB/TrEMBL
  ENSP00000451692 UniProtKB/TrEMBL
Ensembl Transcript ENST00000398246 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524526 UniProtKB/TrEMBL
  ENST00000525024 UniProtKB/TrEMBL
  ENST00000526680 UniProtKB/TrEMBL
  ENST00000533751 UniProtKB/TrEMBL
  ENST00000534446 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154359 GTEx
HGNC ID HGNC:26302 ENTREZGENE
Human Proteome Map LONRF1 Human Proteome Map
InterPro Lon_substr-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-contain_dom UniProtKB/Swiss-Prot
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot
  TPR_repeat UniProtKB/Swiss-Prot
  Znf-RING_LisH UniProtKB/Swiss-Prot
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91694 UniProtKB/Swiss-Prot
NCBI Gene 91694 ENTREZGENE
Pfam LON_substr_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RING_UBOX UniProtKB/Swiss-Prot
PharmGKB PA128394743 PharmGKB
PROSITE LON_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LON UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48452 UniProtKB/Swiss-Prot
  SSF88697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGE8_HUMAN UniProtKB/TrEMBL
  E9PQH4_HUMAN UniProtKB/TrEMBL
  E9PRX6_HUMAN UniProtKB/TrEMBL
  H7C5V9_HUMAN UniProtKB/TrEMBL
  LONF1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DM29 UniProtKB/Swiss-Prot
  B4DU84 UniProtKB/Swiss-Prot
  Q8TEA0 UniProtKB/Swiss-Prot
  Q9BSV1 UniProtKB/Swiss-Prot