LRRC14 (leucine rich repeat containing 14) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LRRC14 (leucine rich repeat containing 14) Homo sapiens
Analyze
Symbol: LRRC14
Name: leucine rich repeat containing 14
RGD ID: 1348401
HGNC Page HGNC
Description: Exhibits kinase binding activity. Involved in negative regulation of NF-kappaB transcription factor activity and negative regulation of toll-like receptor signaling pathway. Localizes to cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: KIAA0014; leucine-rich repeat-containing protein 14; LRRC14A
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC234791.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,517,992 - 144,525,172 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,517,965 - 144,525,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,743,376 - 145,750,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,714,199 - 145,721,365 (+)NCBINCBI36hg18NCBI36
Build 348145,714,198 - 145,721,365NCBI
Celera8141,919,071 - 141,926,237 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,856,834 - 140,864,047 (+)NCBIHuRef
CHM1_18145,781,538 - 145,788,752 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)

Molecular Function

References

Additional References at PubMed
PMID:7584026   PMID:12477932   PMID:15489334   PMID:18976975   PMID:19295130   PMID:19615732   PMID:21145461   PMID:21873635   PMID:25201988   PMID:27426725   PMID:31253590   PMID:31950832  


Genomics

Comparative Map Data
LRRC14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,517,992 - 144,525,172 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,517,965 - 144,525,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,743,376 - 145,750,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,714,199 - 145,721,365 (+)NCBINCBI36hg18NCBI36
Build 348145,714,198 - 145,721,365NCBI
Celera8141,919,071 - 141,926,237 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,856,834 - 140,864,047 (+)NCBIHuRef
CHM1_18145,781,538 - 145,788,752 (+)NCBICHM1_1
Lrrc14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,594,820 - 76,599,297 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,594,823 - 76,601,899 (+)Ensembl
GRCm381576,710,615 - 76,715,097 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,710,623 - 76,717,699 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,541,170 - 76,545,521 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,537,995 - 76,542,346 (+)NCBImm8
Celera1578,204,350 - 78,208,701 (+)NCBICelera
Cytogenetic Map15D3NCBI
Lrrc14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,430,779 - 108,437,118 (+)NCBI
Rnor_6.0 Ensembl7117,773,230 - 117,779,505 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,773,219 - 117,779,555 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,761,186 - 117,767,499 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,760,919 - 114,766,477 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,781,396 - 104,786,954 (+)NCBICelera
Cytogenetic Map7q34NCBI
Lrrc14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,142,636 - 3,146,470 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,142,621 - 3,146,470 (+)NCBIChiLan1.0ChiLan1.0
LRRC14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,937,437 - 37,941,202 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,937,111 - 37,941,703 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,897,740 - 37,901,510 (+)NCBI
ROS_Cfam_1.01338,410,725 - 38,414,495 (+)NCBI
UMICH_Zoey_3.11338,102,671 - 38,106,439 (+)NCBI
UNSW_CanFamBas_1.01338,211,083 - 38,214,853 (+)NCBI
UU_Cfam_GSD_1.01338,687,562 - 38,691,332 (+)NCBI
Lrrc14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303325,324 - 328,813 (-)NCBI
SpeTri2.0NW_0049364707,751,426 - 7,755,272 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4279,769 - 287,062 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14279,756 - 287,085 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24371,155 - 378,053 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC14
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,732,276 - 138,736,348 (+)NCBI
ChlSab1.1 Ensembl8138,734,046 - 138,735,804 (+)Ensembl
Vero_WHO_p1.0NW_0236660391,115,429 - 1,122,666 (-)NCBI
Lrrc14
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,337,564 - 12,345,260 (-)NCBI

Position Markers
LW61-40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,741,536 - 145,743,345UniSTSGRCh37
Build 368145,712,344 - 145,714,153RGDNCBI36
Celera8141,917,216 - 141,919,025RGD
HuRef8140,855,021 - 140,856,830UniSTS
RH25253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,750,320 - 145,750,471UniSTSGRCh37
Build 368145,721,128 - 145,721,279RGDNCBI36
Celera8141,926,000 - 141,926,151RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,863,805 - 140,863,956UniSTS
GeneMap99-GB4 RH Map1713.63UniSTS
SGC30393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,750,439 - 145,750,543UniSTSGRCh37
Build 368145,721,247 - 145,721,351RGDNCBI36
Celera8141,926,119 - 141,926,223RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,863,924 - 140,864,028UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS
Whitehead-RH Map8721.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4957
Count of miRNA genes:1136
Interacting mature miRNAs:1452
Transcripts:ENST00000292524, ENST00000525766, ENST00000527730, ENST00000528528, ENST00000529022, ENST00000529995, ENST00000530242, ENST00000530854, ENST00000531310
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 2331 1413 1321 253 1145 115 3468 1050 2541 230 1402 1507 152 861 2049 3
Low 108 1567 405 371 794 350 889 1147 1193 189 58 106 23 1 343 739 3 2
Below cutoff 11 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001272036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU634522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000292524   ⟹   ENSP00000292524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,517,992 - 144,525,172 (+)Ensembl
RefSeq Acc Id: ENST00000525766   ⟹   ENSP00000434738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,518,745 - 144,520,387 (+)Ensembl
RefSeq Acc Id: ENST00000527730   ⟹   ENSP00000436452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,517,992 - 144,520,811 (+)Ensembl
RefSeq Acc Id: ENST00000528528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,522,582 - 144,524,446 (+)Ensembl
RefSeq Acc Id: ENST00000529022   ⟹   ENSP00000434768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,518,005 - 144,522,024 (+)Ensembl
RefSeq Acc Id: ENST00000529995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,523,663 - 144,524,871 (+)Ensembl
RefSeq Acc Id: ENST00000530242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,523,272 - 144,524,291 (+)Ensembl
RefSeq Acc Id: ENST00000530854   ⟹   ENSP00000435985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,518,371 - 144,519,985 (+)Ensembl
RefSeq Acc Id: ENST00000531310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,519,267 - 144,520,822 (+)Ensembl
RefSeq Acc Id: NM_001272036   ⟹   NP_001258965
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,992 - 144,525,172 (+)NCBI
HuRef8140,856,834 - 140,864,047 (+)NCBI
CHM1_18145,781,538 - 145,788,752 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014665   ⟹   NP_055480
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,992 - 144,525,172 (+)NCBI
GRCh378145,743,349 - 145,750,562 (+)NCBI
Build 368145,714,199 - 145,721,365 (+)NCBI Archive
Celera8141,919,071 - 141,926,237 (+)RGD
HuRef8140,856,834 - 140,864,047 (+)NCBI
CHM1_18145,781,538 - 145,788,752 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272358   ⟹   XP_005272415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,971 - 144,522,021 (+)NCBI
GRCh378145,743,349 - 145,750,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272359   ⟹   XP_005272416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,996 - 144,522,024 (+)NCBI
GRCh378145,743,349 - 145,750,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272360   ⟹   XP_005272417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,972 - 144,522,021 (+)NCBI
GRCh378145,743,349 - 145,750,562 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014005   ⟹   XP_016869494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,997 - 144,522,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447336   ⟹   XP_024303104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,518,440 - 144,522,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447337   ⟹   XP_024303105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,518,440 - 144,522,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447338   ⟹   XP_024303106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,980 - 144,522,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447339   ⟹   XP_024303107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,965 - 144,522,024 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447340   ⟹   XP_024303108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,517,968 - 144,522,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447341   ⟹   XP_024303109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,518,004 - 144,522,024 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055480   ⟸   NM_014665
- UniProtKB: Q15048 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258965   ⟸   NM_001272036
- UniProtKB: Q15048 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272415   ⟸   XM_005272358
- Peptide Label: isoform X1
- UniProtKB: Q15048 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272417   ⟸   XM_005272360
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005272416   ⟸   XM_005272359
- Peptide Label: isoform X1
- UniProtKB: Q15048 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869494   ⟸   XM_017014005
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303107   ⟸   XM_024447339
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303108   ⟸   XM_024447340
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303106   ⟸   XM_024447338
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303109   ⟸   XM_024447341
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303105   ⟸   XM_024447337
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024303104   ⟸   XM_024447336
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000292524   ⟸   ENST00000292524
RefSeq Acc Id: ENSP00000435985   ⟸   ENST00000530854
RefSeq Acc Id: ENSP00000434738   ⟸   ENST00000525766
RefSeq Acc Id: ENSP00000436452   ⟸   ENST00000527730
RefSeq Acc Id: ENSP00000434768   ⟸   ENST00000529022

Promoters
RGD ID:7214503
Promoter ID:EPDNEW_H12996
Type:initiation region
Name:LRRC14_1
Description:leucine rich repeat containing 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,518,004 - 144,518,064EPDNEW
RGD ID:6806998
Promoter ID:HG_KWN:62360
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000301323,   NM_004260,   NM_014665,   UC003ZDJ.1,   UC003ZDL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,713,071 - 145,714,167 (-)MPROMDB
RGD ID:6814800
Promoter ID:HG_XEF:8144
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001024354,   NM_145471
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,714,751 - 145,715,251 (+)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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_001024678.3(LRRC24):c.1379delA (p.Glu460Glyfs) deletion Malignant melanoma [RCV000068215] Chr8:144522638 [GRCh38]
Chr8:145748022 [GRCh37]
Chr8:145718830 [NCBI36]
Chr8:8q24.3
not provided
NM_001024678.3(LRRC24):c.1381G>A (p.Glu461Lys) single nucleotide variant Malignant melanoma [RCV000068214] Chr8:144522636 [GRCh38]
Chr8:145748020 [GRCh37]
Chr8:145718828 [NCBI36]
Chr8:8q24.3
not provided
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
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 8q24.22-24.3(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(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3
benign
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 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 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 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
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
NM_014665.4(LRRC14):c.73T>C (p.Leu25=) single nucleotide variant not specified [RCV000454454] Chr8:144519798 [GRCh38]
Chr8:145745182 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3
benign
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 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
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(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [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 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.13-24.3(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(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20419 AgrOrtholog
COSMIC LRRC14 COSMIC
Ensembl Genes ENSG00000160959 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000292524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434738 UniProtKB/TrEMBL
  ENSP00000434768 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435985 UniProtKB/TrEMBL
  ENSP00000436452 UniProtKB/TrEMBL
Ensembl Transcript ENST00000292524 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000525766 UniProtKB/TrEMBL
  ENST00000527730 UniProtKB/TrEMBL
  ENST00000529022 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530854 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000160959 GTEx
HGNC ID HGNC:20419 ENTREZGENE
Human Proteome Map LRRC14 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRRC14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9684 UniProtKB/Swiss-Prot
NCBI Gene 9684 ENTREZGENE
PANTHER PTHR14224:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_6 UniProtKB/Swiss-Prot
PharmGKB PA134914089 PharmGKB
UniProt E9PNL0_HUMAN UniProtKB/TrEMBL
  E9PP40_HUMAN UniProtKB/TrEMBL
  E9PRP5_HUMAN UniProtKB/TrEMBL
  LRC14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K0A8 UniProtKB/Swiss-Prot
  D3DWM8 UniProtKB/Swiss-Prot