LXN (latexin) - Rat Genome Database

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Gene: LXN (latexin) Homo sapiens
Analyze
Symbol: LXN
Name: latexin
RGD ID: 737325
HGNC Page HGNC
Description: Predicted to enable metalloendopeptidase inhibitor activity. Predicted to be involved in inflammatory response and negative regulation of endopeptidase activity. Predicted to act upstream of or within detection of temperature stimulus involved in sensory perception of pain. Predicted to be located in cytoplasm. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECI; endogenous carboxypeptidase inhibitor; MUM; TCI; tissue carboxypeptidase inhibitor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100128898  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383158,666,414 - 158,672,648 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3158,645,822 - 158,672,648 (-)EnsemblGRCh38hg38GRCh38
GRCh373158,384,203 - 158,390,437 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363159,866,900 - 159,873,176 (-)NCBINCBI36hg18NCBI36
Build 343159,866,907 - 159,873,184NCBI
Celera3156,806,788 - 156,813,067 (-)NCBI
Cytogenetic Map3q25.32NCBI
HuRef3155,780,049 - 155,786,328 (-)NCBIHuRef
CHM1_13158,347,170 - 158,353,449 (-)NCBICHM1_1
T2T-CHM13v2.03161,440,336 - 161,446,570 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
biochanin A  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
calcitriol  (EXP)
choline  (ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (ISO)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
diclofenac  (EXP)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
etoposide  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
indole-3-methanol  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lucanthone  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
Muraglitazar  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
resveratrol  (ISO)
sodium arsenite  (EXP)
sodium aurothiomalate  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11455960   PMID:12477932   PMID:15489334   PMID:15738388   PMID:17207965   PMID:17353931   PMID:21466706   PMID:21567403   PMID:21873635   PMID:22939629   PMID:23028717   PMID:23364479  
PMID:23376485   PMID:23712706   PMID:24399246   PMID:25416956   PMID:25551472   PMID:26530530   PMID:28087740   PMID:29608488   PMID:29791485   PMID:30463901   PMID:30914656   PMID:32296183  
PMID:32555320  


Genomics

Comparative Map Data
LXN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383158,666,414 - 158,672,648 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3158,645,822 - 158,672,648 (-)EnsemblGRCh38hg38GRCh38
GRCh373158,384,203 - 158,390,437 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363159,866,900 - 159,873,176 (-)NCBINCBI36hg18NCBI36
Build 343159,866,907 - 159,873,184NCBI
Celera3156,806,788 - 156,813,067 (-)NCBI
Cytogenetic Map3q25.32NCBI
HuRef3155,780,049 - 155,786,328 (-)NCBIHuRef
CHM1_13158,347,170 - 158,353,449 (-)NCBICHM1_1
T2T-CHM13v2.03161,440,336 - 161,446,570 (-)NCBI
Lxn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39367,365,332 - 67,371,240 (-)NCBIGRCm39mm39
GRCm39 Ensembl367,365,331 - 67,371,259 (-)Ensembl
GRCm38367,457,999 - 67,463,907 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl367,457,998 - 67,463,926 (-)EnsemblGRCm38mm10GRCm38
MGSCv37367,261,921 - 67,267,829 (-)NCBIGRCm37mm9NCBIm37
MGSCv36367,545,928 - 67,551,836 (-)NCBImm8
Celera367,584,098 - 67,590,006 (-)NCBICelera
Cytogenetic Map3E1NCBI
cM Map330.98NCBI
Lxn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22151,727,556 - 151,733,426 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2151,727,102 - 151,733,460 (-)Ensembl
Rnor_6.02164,628,565 - 164,634,434 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2164,628,566 - 164,634,434 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02183,977,968 - 183,983,837 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42157,310,036 - 157,315,905 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12157,259,999 - 157,265,868 (-)NCBI
Celera2146,097,077 - 146,102,946 (-)NCBICelera
Cytogenetic Map2q32NCBI
Lxn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554489,414,721 - 9,421,575 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554489,414,721 - 9,421,575 (-)NCBIChiLan1.0ChiLan1.0
LXN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13163,743,319 - 163,749,614 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3163,743,319 - 163,749,614 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03155,692,283 - 155,698,605 (-)NCBIMhudiblu_PPA_v0panPan3
LXN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12351,962,877 - 51,968,447 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2351,962,873 - 51,969,172 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2351,772,677 - 51,778,236 (-)NCBI
ROS_Cfam_1.02352,601,679 - 52,609,457 (-)NCBI
ROS_Cfam_1.0 Ensembl2352,603,873 - 52,610,212 (-)Ensembl
UMICH_Zoey_3.12352,182,014 - 52,189,772 (-)NCBI
UNSW_CanFamBas_1.02352,234,990 - 52,242,749 (-)NCBI
UU_Cfam_GSD_1.02352,520,422 - 52,528,212 (-)NCBI
Lxn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560284,460,719 - 84,466,968 (+)NCBI
SpeTri2.0NW_0049365195,266,988 - 5,273,227 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LXN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1398,435,319 - 98,441,785 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11398,435,318 - 98,441,823 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213106,728,207 - 106,734,674 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LXN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11532,170,100 - 32,177,239 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1532,171,183 - 32,180,384 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660414,734,054 - 4,740,325 (+)NCBIVero_WHO_p1.0
Lxn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473036,379,576 - 36,388,760 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473036,382,179 - 36,388,785 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH102943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,384,339 - 158,384,518UniSTSGRCh37
Build 363159,867,033 - 159,867,212RGDNCBI36
Celera3156,806,924 - 156,807,103RGD
Cytogenetic Map3q25.32UniSTS
Cytogenetic Map3q25UniSTS
HuRef3155,780,185 - 155,780,364UniSTS
GeneMap99-GB4 RH Map3584.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:199
Count of miRNA genes:173
Interacting mature miRNAs:180
Transcripts:ENST00000264265, ENST00000482640
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 3
Medium 1246 1086 1289 225 908 78 1804 317 924 320 954 1443 154 1 1104 895 3 2
Low 1162 1867 396 362 938 350 2501 1819 2692 92 484 88 14 100 1866 3
Below cutoff 25 36 34 31 79 31 45 43 90 7 16 54 6 27

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264265   ⟹   ENSP00000264265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3158,666,414 - 158,672,648 (-)Ensembl
RefSeq Acc Id: ENST00000482640   ⟹   ENSP00000419373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3158,645,822 - 158,669,593 (-)Ensembl
RefSeq Acc Id: NM_020169   ⟹   NP_064554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,666,414 - 158,672,648 (-)NCBI
GRCh373158,384,203 - 158,390,482 (-)RGD
Build 363159,866,900 - 159,873,176 (-)NCBI Archive
Celera3156,806,788 - 156,813,067 (-)RGD
HuRef3155,780,049 - 155,786,328 (-)ENTREZGENE
CHM1_13158,347,170 - 158,353,449 (-)NCBI
T2T-CHM13v2.03161,440,336 - 161,446,570 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_064554   ⟸   NM_020169
- UniProtKB: Q9BS40 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000419373   ⟸   ENST00000482640
RefSeq Acc Id: ENSP00000264265   ⟸   ENST00000264265

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BS40-F1-model_v2 AlphaFold Q9BS40 1-222 view protein structure

Promoters
RGD ID:6866184
Promoter ID:EPDNEW_H6225
Type:initiation region
Name:LXN_1
Description:latexin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,672,644 - 158,672,704EPDNEW
RGD ID:6801270
Promoter ID:HG_KWN:46569
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_020169
Position:
Human AssemblyChrPosition (strand)Source
Build 363159,872,821 - 159,873,321 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3 copy number gain See cases [RCV000051537] Chr3:158614801..159429760 [GRCh38]
Chr3:158332590..159147549 [GRCh37]
Chr3:159815284..160630243 [NCBI36]
Chr3:3q25.32-25.33
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1 copy number loss See cases [RCV000053997] Chr3:158652224..159036456 [GRCh38]
Chr3:158370013..158754245 [GRCh37]
Chr3:159852707..160236939 [NCBI36]
Chr3:3q25.32
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q25.32(chr3:158361184-158410354)x3 copy number gain See cases [RCV000240197] Chr3:158361184..158410354 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q25.32(chr3:158060351-158665225)x3 copy number gain See cases [RCV000449404] Chr3:158060351..158665225 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3 copy number gain not provided [RCV000682320] Chr3:157991657..159073531 [GRCh37]
Chr3:3q25.32-25.33
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.32(chr3:157957741-158531803)x3 copy number gain not provided [RCV000742903] Chr3:157957741..158531803 [GRCh37]
Chr3:3q25.32
benign
GRCh37/hg19 3q25.32(chr3:158342928-158411681)x1 copy number loss not provided [RCV000742908] Chr3:158342928..158411681 [GRCh37]
Chr3:3q25.32
benign
NM_020169.4(LXN):c.406G>A (p.Val136Ile) single nucleotide variant not provided [RCV000883126] Chr3:158669097 [GRCh38]
Chr3:158386886 [GRCh37]
Chr3:3q25.32
benign
NM_020169.4(LXN):c.143G>A (p.Arg48Lys) single nucleotide variant not provided [RCV000951070] Chr3:158671006 [GRCh38]
Chr3:158388795 [GRCh37]
Chr3:3q25.32
benign
NM_024996.7(GFM1):c.1601+38A>G single nucleotide variant not provided [RCV000838508] Chr3:158666424 [GRCh38]
Chr3:158384213 [GRCh37]
Chr3:3q25.32
benign
GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3 copy number gain not provided [RCV000848889] Chr3:158149940..158802473 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3 copy number gain See cases [RCV001194528] Chr3:156812581..160154747 [GRCh37]
Chr3:3q25.31-25.33
uncertain significance
GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3 copy number gain not provided [RCV000847182] Chr3:157542717..158388665 [GRCh37]
Chr3:3q25.32
uncertain significance
NM_020169.4(LXN):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV000886512] Chr3:158672441 [GRCh38]
Chr3:158390230 [GRCh37]
Chr3:3q25.32
benign
NM_020169.4(LXN):c.641G>A (p.Arg214His) single nucleotide variant not provided [RCV000888145] Chr3:158666674 [GRCh38]
Chr3:158384463 [GRCh37]
Chr3:3q25.32
likely benign
NM_020169.4(LXN):c.46G>A (p.Val16Met) single nucleotide variant not provided [RCV000957567] Chr3:158672433 [GRCh38]
Chr3:158390222 [GRCh37]
Chr3:3q25.32
likely benign
NM_020169.4(LXN):c.501G>A (p.Lys167=) single nucleotide variant not provided [RCV000891476] Chr3:158669002 [GRCh38]
Chr3:158386791 [GRCh37]
Chr3:3q25.32
benign
NM_024996.7(GFM1):c.1601+90T>G single nucleotide variant not provided [RCV001565625] Chr3:158666476 [GRCh38]
Chr3:158384265 [GRCh37]
Chr3:3q25.32
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_020169.4(LXN):c.570+1G>C single nucleotide variant See cases [RCV001197651] Chr3:158667011 [GRCh38]
Chr3:158384800 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NC_000003.11:g.(?_158362414)_(158409266_?)del deletion not provided [RCV001382185] Chr3:158362414..158409266 [GRCh37]
Chr3:3q25.32
pathogenic
Single allele duplication not provided [RCV001784120] Chr3:158305597..158428584 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33
pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553) copy number gain not specified [RCV002053381] Chr3:156768935..160158553 [GRCh37]
Chr3:3q25.31-25.33
uncertain significance
GRCh37/hg19 3q25.32(chr3:158060351-158665225) copy number gain not specified [RCV002053383] Chr3:158060351..158665225 [GRCh37]
Chr3:3q25.32
uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13347 AgrOrtholog
COSMIC LXN COSMIC
Ensembl Genes ENSG00000079257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264265 ENTREZGENE
  ENSP00000264265.3 UniProtKB/Swiss-Prot
  ENSP00000419373.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264265 ENTREZGENE
  ENST00000264265.4 UniProtKB/Swiss-Prot
  ENST00000482640.5 UniProtKB/TrEMBL
GTEx ENSG00000079257 GTEx
HGNC ID HGNC:13347 ENTREZGENE
Human Proteome Map LXN Human Proteome Map
InterPro Cystatin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_inh_latexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56925 UniProtKB/Swiss-Prot
NCBI Gene 56925 ENTREZGENE
OMIM 609305 OMIM
PANTHER PTHR28591 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Latexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134991999 PharmGKB
PIRSF Prot_inh_latexin UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7C5A4_HUMAN UniProtKB/TrEMBL
  LXN_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96PN2 UniProtKB/Swiss-Prot
  Q9NQS6 UniProtKB/Swiss-Prot