LGI4 (leucine rich repeat LGI family member 4) - Rat Genome Database

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Gene: LGI4 (leucine rich repeat LGI family member 4) Homo sapiens
Analyze
Symbol: LGI4
Name: leucine rich repeat LGI family member 4
RGD ID: 1344124
HGNC Page HGNC
Description: Involved in regulation of myelination. Predicted to localize to extracellular region. Implicated in childhood absence epilepsy; INTERACTS WITH antirheumatic drug; butanal; clothianidin.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AMC1; AMCNMY; leucine-rich glioma-inactivated gene 4; leucine-rich glioma-inactivated protein 4; leucine-rich repeat LGI family member 4; leucine-rich repeat LGI family, member 4; LGI1-like protein 3; LGIL3
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 Ensembl1935,124,513 - 35,142,451 (-)EnsemblGRCh38hg38GRCh38
GRCh381935,124,513 - 35,135,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371935,615,417 - 35,625,963 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,307,257 - 40,317,944 (-)NCBINCBI36hg18NCBI36
Build 341940,307,256 - 40,317,944NCBI
Celera1932,328,853 - 32,339,614 (-)NCBI
Cytogenetic Map19q13.12NCBI
HuRef1932,123,410 - 32,134,089 (-)NCBIHuRef
CHM1_11935,617,430 - 35,628,191 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:12023020   PMID:12095917   PMID:12217514   PMID:12477932   PMID:12975309   PMID:19815358   PMID:20220021   PMID:23284306   PMID:24662834   PMID:28318499  


Genomics

Comparative Map Data
LGI4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1935,124,513 - 35,142,451 (-)EnsemblGRCh38hg38GRCh38
GRCh381935,124,513 - 35,135,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371935,615,417 - 35,625,963 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,307,257 - 40,317,944 (-)NCBINCBI36hg18NCBI36
Build 341940,307,256 - 40,317,944NCBI
Celera1932,328,853 - 32,339,614 (-)NCBI
Cytogenetic Map19q13.12NCBI
HuRef1932,123,410 - 32,134,089 (-)NCBIHuRef
CHM1_11935,617,430 - 35,628,191 (-)NCBICHM1_1
Lgi4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,758,360 - 30,770,360 (+)NCBIGRCm39mm39
GRCm39 Ensembl730,758,767 - 30,770,360 (+)Ensembl
GRCm38731,058,909 - 31,070,935 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl731,059,342 - 31,070,935 (+)EnsemblGRCm38mm10GRCm38
MGSCv37731,844,954 - 31,855,954 (+)NCBIGRCm37mm9NCBIm37
MGSCv36730,768,695 - 30,779,695 (+)NCBImm8
Celera725,627,425 - 25,637,643 (+)NCBICelera
Cytogenetic Map7B1NCBI
cM Map719.29NCBI
Lgi4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2186,294,539 - 86,305,909 (+)NCBI
Rnor_6.0 Ensembl189,491,654 - 89,502,974 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0189,491,588 - 89,502,939 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0190,647,194 - 90,656,996 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4186,103,249 - 86,113,051 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1186,181,359 - 86,191,160 (+)NCBI
Celera180,664,083 - 80,673,885 (+)NCBICelera
Cytogenetic Map1q21NCBI
Lgi4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554684,445,155 - 4,453,610 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554684,441,808 - 4,456,884 (-)NCBIChiLan1.0ChiLan1.0
LGI4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11940,808,853 - 40,827,023 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1940,808,847 - 40,827,024 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01932,070,563 - 32,082,273 (-)NCBIMhudiblu_PPA_v0panPan3
LGI4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11117,443,569 - 117,452,367 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1117,444,941 - 117,452,381 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,843,881 - 116,853,023 (+)NCBI
ROS_Cfam_1.01118,040,818 - 118,049,960 (+)NCBI
UMICH_Zoey_3.11117,603,431 - 117,612,571 (+)NCBI
UNSW_CanFamBas_1.01117,228,742 - 117,237,902 (+)NCBI
UU_Cfam_GSD_1.01118,285,232 - 118,294,382 (+)NCBI
Lgi4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934910,514,614 - 10,522,868 (-)NCBI
SpeTri2.0NW_0049365701,122,987 - 1,131,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LGI4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl644,655,617 - 44,663,234 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1644,655,621 - 44,663,874 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,101,147 - 40,110,225 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LGI4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,057,248 - 30,075,435 (-)NCBI
ChlSab1.1 Ensembl630,057,917 - 30,067,696 (-)Ensembl
Lgi4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247948,358,671 - 8,384,763 (+)NCBI

Position Markers
SGC33373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,627,006 - 35,627,136UniSTSGRCh37
Build 361940,318,846 - 40,318,976RGDNCBI36
Celera1932,340,442 - 32,340,572RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,134,917 - 32,135,047UniSTS
GeneMap99-GB4 RH Map19216.04UniSTS
Whitehead-RH Map19279.1UniSTS
G20326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,614,941 - 35,615,042UniSTSGRCh37
Build 361940,306,781 - 40,306,882RGDNCBI36
Celera1932,328,377 - 32,328,478RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,122,934 - 32,123,035UniSTS
A005M08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,614,941 - 35,615,042UniSTSGRCh37
Build 361940,306,781 - 40,306,882RGDNCBI36
Celera1932,328,377 - 32,328,478RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,122,934 - 32,123,035UniSTS
GeneMap99-GB4 RH Map19214.04UniSTS
RH11600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,627,054 - 35,627,156UniSTSGRCh37
Build 361940,318,894 - 40,318,996RGDNCBI36
Celera1932,340,490 - 32,340,592RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,134,965 - 32,135,067UniSTS
GeneMap99-GB4 RH Map19208.1UniSTS
RH79072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,622,206 - 35,622,338UniSTSGRCh37
Build 361940,314,046 - 40,314,178RGDNCBI36
Celera1932,335,642 - 32,335,774RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,130,199 - 32,130,331UniSTS
GeneMap99-GB4 RH Map19216.04UniSTS
STS-N52877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,622,139 - 35,622,340UniSTSGRCh37
Build 361940,313,979 - 40,314,180RGDNCBI36
Celera1932,335,575 - 32,335,776RGD
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map19q13.12UniSTS
HuRef1932,130,132 - 32,130,333UniSTS
GeneMap99-GB4 RH Map19216.04UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3398
Count of miRNA genes:947
Interacting mature miRNAs:1163
Transcripts:ENST00000310123, ENST00000392225, ENST00000473160, ENST00000493050, ENST00000587780, ENST00000591633, ENST00000591840, ENST00000592346, ENST00000593248
Prediction methods: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 71 71 71
Medium 2015 1651 689 107 160 13 3699 1654 3175 81 694 1083 94 1177 2516
Low 329 660 980 487 520 419 548 500 427 274 652 341 77 1 27 201 2 2
Below cutoff 74 671 46 23 874 25 30 31 38 56 85 120 3 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_139284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC020907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF467954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX463711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU740724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310123   ⟹   ENSP00000312273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,124,513 - 35,135,059 (-)Ensembl
RefSeq Acc Id: ENST00000392225   ⟹   ENSP00000376059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,124,513 - 35,135,200 (-)Ensembl
RefSeq Acc Id: ENST00000473160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,131,138 - 35,134,638 (-)Ensembl
RefSeq Acc Id: ENST00000493050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,124,666 - 35,142,451 (-)Ensembl
RefSeq Acc Id: ENST00000587780   ⟹   ENSP00000467044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,124,674 - 35,133,741 (-)Ensembl
RefSeq Acc Id: ENST00000591633   ⟹   ENSP00000467784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,131,084 - 35,134,863 (-)Ensembl
RefSeq Acc Id: ENST00000591840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,124,674 - 35,134,643 (-)Ensembl
RefSeq Acc Id: ENST00000592346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,131,532 - 35,134,628 (-)Ensembl
RefSeq Acc Id: ENST00000593248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,126,701 - 35,134,012 (-)Ensembl
RefSeq Acc Id: NM_139284   ⟹   NP_644813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,124,513 - 35,135,059 (-)NCBI
GRCh371935,615,417 - 35,626,178 (-)RGD
Build 361940,307,257 - 40,317,944 (-)NCBI Archive
Celera1932,328,853 - 32,339,614 (-)RGD
HuRef1932,123,410 - 32,134,089 (-)RGD
CHM1_11935,617,430 - 35,628,191 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526595   ⟹   XP_011524897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,124,513 - 35,134,624 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026428   ⟹   XP_016881917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,124,513 - 35,134,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026429   ⟹   XP_016881918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,124,513 - 35,134,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026430   ⟹   XP_016881919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,124,513 - 35,133,683 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_644813   ⟸   NM_139284
- Peptide Label: precursor
- UniProtKB: Q8N135 (UniProtKB/Swiss-Prot),   A5D6Y5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524897   ⟸   XM_011526595
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016881917   ⟸   XM_017026428
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016881918   ⟸   XM_017026429
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016881919   ⟸   XM_017026430
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000467044   ⟸   ENST00000587780
RefSeq Acc Id: ENSP00000312273   ⟸   ENST00000310123
RefSeq Acc Id: ENSP00000376059   ⟸   ENST00000392225
RefSeq Acc Id: ENSP00000467784   ⟸   ENST00000591633
Protein Domains
LRRCT

Promoters
RGD ID:7239479
Promoter ID:EPDNEW_H25485
Type:initiation region
Name:LGI4_1
Description:leucine rich repeat LGI family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25490  EPDNEW_H25493  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,135,059 - 35,135,119EPDNEW
RGD ID:7239487
Promoter ID:EPDNEW_H25490
Type:initiation region
Name:LGI4_3
Description:leucine rich repeat LGI family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25485  EPDNEW_H25493  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,142,538 - 35,142,598EPDNEW
RGD ID:6795450
Promoter ID:HG_KWN:29619
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:ENST00000392225
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,318,046 - 40,318,546 (-)MPROMDB
RGD ID:6811644
Promoter ID:HG_ACW:41105
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:LGI4.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361940,324,081 - 40,324,581 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_139284.3(LGI4):c.793+5G>C single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487486] Chr19:35126848 [GRCh38]
Chr19:35617752 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487487] Chr19:35126873 [GRCh38]
Chr19:35617777 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487489] Chr19:35126853 [GRCh38]
Chr19:35617757 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487490] Chr19:35125506 [GRCh38]
Chr19:35616410 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487492] Chr19:35126706 [GRCh38]
Chr19:35617610 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.1299+5G>T single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000487493] Chr19:35126265 [GRCh38]
Chr19:35617169 [GRCh37]
Chr19:19q13.12
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1 copy number loss See cases [RCV000141865] Chr19:31367353..35417098 [GRCh38]
Chr19:31858259..35908000 [GRCh37]
Chr19:36550099..40599840 [NCBI36]
Chr19:19q12-13.12
pathogenic
GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3 copy number gain Ductal breast carcinoma [RCV000207175] Chr19:35516999..35990896 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:35612084-35622065)x3 copy number gain See cases [RCV000448549] Chr19:35612084..35622065 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:35612084-35617093)x3 copy number gain See cases [RCV000448844] Chr19:35612084..35617093 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12
pathogenic
NM_139284.3(LGI4):c.830del (p.Gly277fs) deletion not provided [RCV000627601] Chr19:35126739 [GRCh38]
Chr19:35617643 [GRCh37]
Chr19:19q13.12
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000664224] Chr19:35134075 [GRCh38]
Chr19:35624979 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000664223] Chr19:35126416 [GRCh38]
Chr19:35617320 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.2T>C (p.Met1Thr) single nucleotide variant Arthrogryposis multiplex congenita 2, neurogenic type [RCV000766216] Chr19:35134679 [GRCh38]
Chr19:35625583 [GRCh37]
Chr19:19q13.12
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_139284.3(LGI4):c.777C>G (p.Pro259=) single nucleotide variant not provided [RCV000891905] Chr19:35126869 [GRCh38]
Chr19:35617773 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.834del (p.Ser279fs) deletion Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV000984971] Chr19:35126735 [GRCh38]
Chr19:35617639 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys) single nucleotide variant Fetal akinesia sequence [RCV000855465] Chr19:35131510 [GRCh38]
Chr19:35622414 [GRCh37]
Chr19:19q13.12
likely pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln) single nucleotide variant Fetal akinesia sequence [RCV000855466] Chr19:35126538 [GRCh38]
Chr19:35617442 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_139284.3(LGI4):c.386+8C>T single nucleotide variant not provided [RCV000980847] Chr19:35131963 [GRCh38]
Chr19:35622867 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.294C>A (p.Gly98=) single nucleotide variant not provided [RCV000909602] Chr19:35133713 [GRCh38]
Chr19:35624617 [GRCh37]
Chr19:19q13.12
benign
NM_139284.3(LGI4):c.794-2A>G single nucleotide variant not specified [RCV000825641] Chr19:35126777 [GRCh38]
Chr19:35617681 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3 copy number gain not provided [RCV000848432] Chr19:35548527..35772471 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 copy number loss not provided [RCV000845987] Chr19:35613953..36183886 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_139284.3(LGI4):c.1212C>T (p.Pro404=) single nucleotide variant not provided [RCV000895036] Chr19:35126357 [GRCh38]
Chr19:35617261 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.495C>T (p.Arg165=) single nucleotide variant not provided [RCV000940601] Chr19:35131519 [GRCh38]
Chr19:35622423 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.766C>A (p.Arg256Ser) single nucleotide variant not provided [RCV000908501] Chr19:35126880 [GRCh38]
Chr19:35617784 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.279C>T (p.Asp93=) single nucleotide variant not provided [RCV000908502] Chr19:35133728 [GRCh38]
Chr19:35624632 [GRCh37]
Chr19:19q13.12
benign
NM_139284.3(LGI4):c.726C>T (p.Ala242=) single nucleotide variant not provided [RCV000885695] Chr19:35126920 [GRCh38]
Chr19:35617824 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.1413C>T (p.Ser471=) single nucleotide variant not provided [RCV000983089] Chr19:35125394 [GRCh38]
Chr19:35616298 [GRCh37]
Chr19:19q13.12
benign
NM_139284.3(LGI4):c.1095G>C (p.Thr365=) single nucleotide variant not provided [RCV000981820] Chr19:35126474 [GRCh38]
Chr19:35617378 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.1180G>A (p.Gly394Ser) single nucleotide variant not provided [RCV000969319] Chr19:35126389 [GRCh38]
Chr19:35617293 [GRCh37]
Chr19:19q13.12
benign
NM_139284.3(LGI4):c.1286T>C (p.Ile429Thr) single nucleotide variant not provided [RCV000890297] Chr19:35126283 [GRCh38]
Chr19:35617187 [GRCh37]
Chr19:19q13.12
likely benign
NM_139284.3(LGI4):c.630G>A (p.Glu210=) single nucleotide variant not provided [RCV000958013] Chr19:35127016 [GRCh38]
Chr19:35617920 [GRCh37]
Chr19:19q13.12
benign
NM_139284.3(LGI4):c.1179C>G (p.Thr393=) single nucleotide variant not provided [RCV000934076] Chr19:35126390 [GRCh38]
Chr19:35617294 [GRCh37]
Chr19:19q13.12
likely benign
Single allele deletion Dystonia [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12
pathogenic
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV001251121] Chr19:35126297 [GRCh38]
Chr19:35617201 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_139284.3(LGI4):c.263_265del (p.Phe88del) deletion Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV001251122] Chr19:35133742..35133744 [GRCh38]
Chr19:35624646..35624648 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_139284.3(LGI4):c.493C>T (p.Arg165Cys) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV001334546] Chr19:35131521 [GRCh38]
Chr19:35622425 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_139284.3(LGI4):c.17T>A (p.Ile6Asn) single nucleotide variant Arthrogryposis multiplex congenita, neurogenic, with myelin defect [RCV001334545] Chr19:35134664 [GRCh38]
Chr19:35625568 [GRCh37]
Chr19:19q13.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18712 AgrOrtholog
COSMIC LGI4 COSMIC
Ensembl Genes ENSG00000153902 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376059 UniProtKB/TrEMBL
  ENSP00000467044 UniProtKB/TrEMBL
  ENSP00000467784 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000310123 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392225 UniProtKB/TrEMBL
  ENST00000493050 ENTREZGENE
  ENST00000587780 UniProtKB/TrEMBL
  ENST00000591633 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000153902 GTEx
HGNC ID HGNC:18712 ENTREZGENE
Human Proteome Map LGI4 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:163175 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 163175 ENTREZGENE
OMIM 608303 OMIM
  617468 OMIM
Pfam EPTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38656 PharmGKB
PROSITE EAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5D6Y5 ENTREZGENE, UniProtKB/TrEMBL
  A8MVC2_HUMAN UniProtKB/TrEMBL
  K7ENQ0_HUMAN UniProtKB/TrEMBL
  LGI4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RN53 UniProtKB/Swiss-Prot
  B9EGS7 UniProtKB/Swiss-Prot
  Q5M8T1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 LGI4  leucine rich repeat LGI family member 4    leucine-rich repeat LGI family member 4  Symbol and/or name change 5135510 APPROVED
2015-11-24 LGI4  leucine-rich repeat LGI family member 4    leucine-rich repeat LGI family, member 4  Symbol and/or name change 5135510 APPROVED