GML (glycosylphosphatidylinositol anchored molecule like) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GML (glycosylphosphatidylinositol anchored molecule like) Homo sapiens
Analyze
Symbol: GML
Name: glycosylphosphatidylinositol anchored molecule like
RGD ID: 1317284
HGNC Page HGNC
Description: Predicted to be involved in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; apoptotic process; and negative regulation of cell population proliferation. Predicted to localize to extrinsic component of membrane; INTERACTS WITH benzo[a]pyrene; valproic acid; bisphenol A (ortholog).
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: glycosyl-phosphatidylinositol-anchored molecule-like protein; glycosylphosphatidylinositol anchored molecule like protein; Glycosylphosphatidylinositol-anchored molecule-like protein; GPI anchored molecule like protein; LY6DL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,834,247 - 142,916,506 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,834,801 - 142,846,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,916,217 - 143,928,267 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,913,219 - 143,925,264 (+)NCBINCBI36hg18NCBI36
Build 348143,913,218 - 143,925,264NCBI
Celera8140,225,950 - 140,237,983 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,168,331 - 139,180,326 (+)NCBIHuRef
CHM1_18143,956,347 - 143,968,421 (+)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

Cellular Component

References

Additional References at PubMed
PMID:8934543   PMID:9169150   PMID:12477932   PMID:15489334   PMID:18187620   PMID:20237496   PMID:20800603   PMID:28514442  


Genomics

Comparative Map Data
GML
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,834,247 - 142,916,506 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,834,801 - 142,846,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,916,217 - 143,928,267 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,913,219 - 143,925,264 (+)NCBINCBI36hg18NCBI36
Build 348143,913,218 - 143,925,264NCBI
Celera8140,225,950 - 140,237,983 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,168,331 - 139,180,326 (+)NCBIHuRef
CHM1_18143,956,347 - 143,968,421 (+)NCBICHM1_1
Gml
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,685,283 - 74,691,898 (-)NCBIGRCm39mm39
GRCm39 Ensembl1574,685,301 - 74,690,664 (-)Ensembl
GRCm381574,813,434 - 74,820,049 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,813,452 - 74,818,815 (-)EnsemblGRCm38mm10GRCm38
MGSCv371574,643,884 - 74,649,245 (-)NCBIGRCm37mm9NCBIm37
MGSCv361574,640,709 - 74,645,982 (-)NCBImm8
Celera1576,320,413 - 76,324,166 (-)NCBICelera
Cytogenetic Map15D3NCBI
Gml
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,683,749 - 106,712,802 (-)NCBI
Rnor_6.0 Ensembl7116,039,715 - 116,063,098 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,054,862 - 116,063,459 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,960,326 - 115,975,471 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,937,278 - 112,940,886 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,971,366 - 112,975,116 (+)NCBI
Celera7103,105,681 - 103,113,951 (-)NCBICelera
Cytogenetic Map7q34NCBI
Gml
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,724,859 - 1,735,424 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,724,929 - 1,735,380 (+)NCBIChiLan1.0ChiLan1.0
GML
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,589,622 - 142,601,636 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,589,622 - 142,601,636 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,497,857 - 139,560,838 (+)NCBIMhudiblu_PPA_v0panPan3
LOC100684332
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1336,754,369 - 36,755,090 (-)NCBI
Gml
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,550,244 - 1,571,521 (+)NCBI
SpeTri2.0NW_0049364708,978,825 - 8,997,476 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GML
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.141,355,696 - 1,364,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GML
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,070,864 - 137,095,154 (+)NCBI
ChlSab1.1 Ensembl8137,088,766 - 137,094,991 (+)Ensembl
Gml
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,737,122 - 13,749,775 (+)NCBI

Position Markers
SHGC-77791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,919,374 - 143,919,645UniSTSGRCh37
GRCh378143,914,230 - 143,914,501UniSTSGRCh37
Build 368143,911,232 - 143,911,503RGDNCBI36
Celera8140,229,105 - 140,229,376UniSTS
Celera8140,223,963 - 140,224,234RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,166,344 - 139,166,615UniSTS
HuRef8139,171,448 - 139,171,719UniSTS
TNG Radiation Hybrid Map870990.0UniSTS
GML__6816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,927,817 - 143,928,343UniSTSGRCh37
Build 368143,924,819 - 143,925,345RGDNCBI36
Celera8140,237,538 - 140,238,064RGD
HuRef8139,179,881 - 139,180,407UniSTS
RH68307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,928,107 - 143,928,237UniSTSGRCh37
Build 368143,925,109 - 143,925,239RGDNCBI36
Celera8140,237,828 - 140,237,958RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,180,171 - 139,180,301UniSTS
GeneMap99-GB4 RH Map8549.39UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:526
Count of miRNA genes:418
Interacting mature miRNAs:442
Transcripts:ENST00000220940, ENST00000522728
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage
High
Medium 8 7
Low 5 136 1 25 2 1 9 369 1 1 1
Below cutoff 340 295 271 49 440 31 444 118 814 27 119 239 19 148 243

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000220940   ⟹   ENSP00000220940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,834,801 - 142,846,851 (+)Ensembl
RefSeq Acc Id: ENST00000522728   ⟹   ENSP00000430799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,834,247 - 142,916,506 (+)Ensembl
RefSeq Acc Id: NM_002066   ⟹   NP_002057
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,834,801 - 142,846,851 (+)NCBI
GRCh378143,916,217 - 143,928,262 (+)RGD
Build 368143,913,219 - 143,925,264 (+)NCBI Archive
Celera8140,225,950 - 140,237,983 (+)RGD
HuRef8139,168,331 - 139,180,326 (+)ENTREZGENE
CHM1_18143,956,347 - 143,968,421 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002057   ⟸   NM_002066
- Peptide Label: precursor
- UniProtKB: Q99445 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430799   ⟸   ENST00000522728
RefSeq Acc Id: ENSP00000220940   ⟸   ENST00000220940
Protein Domains
UPAR/Ly6

Promoters
RGD ID:7214315
Promoter ID:EPDNEW_H12904
Type:initiation region
Name:GML_1
Description:glycosylphosphatidylinositol anchored molecule like
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
GRCh388142,834,796 - 142,834,856EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)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-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
NM_002066.2(GML):c.182-569C>A single nucleotide variant Lung cancer [RCV000107218] Chr8:142845826 [GRCh38]
Chr8:143927242 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3 copy number gain See cases [RCV000139849] Chr8:142809777..142910556 [GRCh38]
Chr8:143891193..143991972 [GRCh37]
Chr8:143888195..143988974 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142763122-142880038)x3 copy number gain See cases [RCV000140669] Chr8:142763122..142880038 [GRCh38]
Chr8:143844540..143961454 [GRCh37]
Chr8:143841542..143958456 [NCBI36]
Chr8:8q24.3
likely 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
NM_000497.3(CYP11B1):c.396-536A>G single nucleotide variant Malignant melanoma [RCV000068192] Chr8:142877758 [GRCh38]
Chr8:143959174 [GRCh37]
Chr8:143956176 [NCBI36]
Chr8:8q24.3
not provided
NC_000008.11:g.142865464C>A single nucleotide variant Lung cancer [RCV000107219] Chr8:142865464 [GRCh38]
Chr8:143946880 [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
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 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 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 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(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143786100-143964656)x3 copy number gain not provided [RCV000849655] Chr8:143786100..143964656 [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 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 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_002066.3(GML):c.66C>T (p.Arg22=) single nucleotide variant not provided [RCV000963651] Chr8:142840503 [GRCh38]
Chr8:143921919 [GRCh37]
Chr8:8q24.3
benign
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(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143728492-144093928)x3 copy number gain not provided [RCV001006153] Chr8:143728492..144093928 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4375 AgrOrtholog
COSMIC GML COSMIC
Ensembl Genes ENSG00000104499 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430799 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220940 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522728 UniProtKB/TrEMBL
GTEx ENSG00000104499 GTEx
HGNC ID HGNC:4375 ENTREZGENE
Human Proteome Map GML Human Proteome Map
InterPro CD59_antigen_CS UniProtKB/Swiss-Prot
  LY6_UPA_recep-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2765 UniProtKB/Swiss-Prot
NCBI Gene 2765 ENTREZGENE
OMIM 602370 OMIM
PharmGKB PA28760 PharmGKB
PROSITE LY6_UPAR UniProtKB/Swiss-Prot
SMART SM00134 UniProtKB/Swiss-Prot
UniProt E5RI31_HUMAN UniProtKB/TrEMBL
  GML_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AVF6 UniProtKB/Swiss-Prot
  O00686 UniProtKB/Swiss-Prot
  O00731 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-11-06 GML  glycosylphosphatidylinositol anchored molecule like    glycosylphosphatidylinositol anchored molecule like protein  Symbol and/or name change 5135510 APPROVED