CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking) - Rat Genome Database

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Gene: CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking) Homo sapiens
Analyze
Symbol: CLPTM1
Name: CLPTM1 regulator of GABA type A receptor forward trafficking
RGD ID: 1322154
HGNC Page HGNC:2087
Description: Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus and regulation of postsynaptic membrane neurotransmitter receptor levels. Located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cleft lip and palate associated transmembrane protein 1; cleft lip and palate transmembrane protein 1; putative lipid scramblase CLPTM1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381944,954,585 - 44,993,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1944,954,585 - 44,993,341 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,457,842 - 45,496,599 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,150,478 - 50,188,439 (+)NCBINCBI36Build 36hg18NCBI36
Build 341950,150,477 - 50,188,438NCBI
Celera1942,262,951 - 42,300,913 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1941,888,384 - 41,927,143 (+)NCBIHuRef
CHM1_11945,460,929 - 45,499,697 (+)NCBICHM1_1
T2T-CHM13v2.01947,779,419 - 47,818,179 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:9218588   PMID:9828125   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16102578   PMID:16122939   PMID:16247549   PMID:16263699   PMID:16303743  
PMID:16344560   PMID:18022941   PMID:19460752   PMID:19773279   PMID:19913121   PMID:19937600   PMID:19946888   PMID:20572854   PMID:20628086   PMID:20634891   PMID:20672350   PMID:21873635  
PMID:21903422   PMID:22119785   PMID:22810586   PMID:22939629   PMID:25378659   PMID:25457634   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26618866   PMID:26871637   PMID:27173435  
PMID:28298427   PMID:28380382   PMID:28514442   PMID:29033187   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29395912   PMID:29507755   PMID:30352685   PMID:30631154   PMID:30635792  
PMID:30884312   PMID:31009812   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31203567   PMID:31318583   PMID:31950832   PMID:32513696   PMID:32614325   PMID:32628020   PMID:32687490  
PMID:32807901   PMID:33001583   PMID:33024031   PMID:33144569   PMID:33545068   PMID:33729478   PMID:33766124   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34226595   PMID:34672954  
PMID:34709727   PMID:35271311   PMID:35337019   PMID:35509820   PMID:35696571   PMID:35944360   PMID:36049228   PMID:36180527   PMID:36215168   PMID:36305789   PMID:36517590   PMID:36610398  
PMID:37223481   PMID:37314216   PMID:37577761   PMID:37827155   PMID:38569033   PMID:39115278  


Genomics

Comparative Map Data
CLPTM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381944,954,585 - 44,993,341 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1944,954,585 - 44,993,341 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,457,842 - 45,496,599 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,150,478 - 50,188,439 (+)NCBINCBI36Build 36hg18NCBI36
Build 341950,150,477 - 50,188,438NCBI
Celera1942,262,951 - 42,300,913 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1941,888,384 - 41,927,143 (+)NCBIHuRef
CHM1_11945,460,929 - 45,499,697 (+)NCBICHM1_1
T2T-CHM13v2.01947,779,419 - 47,818,179 (+)NCBIT2T-CHM13v2.0
Clptm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,365,505 - 19,398,955 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl719,365,496 - 19,398,958 (-)EnsemblGRCm39 Ensembl
GRCm38719,631,580 - 19,665,030 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,631,571 - 19,665,033 (-)EnsemblGRCm38mm10GRCm38
MGSCv37720,216,929 - 20,250,379 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36718,791,771 - 18,823,538 (-)NCBIMGSCv36mm8
Celera717,037,510 - 17,070,967 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.93NCBI
Clptm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8188,417,447 - 88,449,047 (-)NCBIGRCr8
mRatBN7.2179,289,478 - 79,321,079 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,289,477 - 79,321,092 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx184,684,220 - 84,715,998 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0193,235,800 - 93,267,483 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0186,439,324 - 86,471,103 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0180,549,051 - 80,580,665 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,549,043 - 80,580,662 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,814,947 - 81,846,254 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4178,938,917 - 78,970,676 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1179,017,031 - 79,039,743 (-)NCBI
Celera173,748,781 - 73,780,340 (-)NCBICelera
Cytogenetic Map1q21NCBI
Clptm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,029,546 - 2,058,497 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,029,591 - 2,056,321 (+)NCBIChiLan1.0ChiLan1.0
CLPTM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22051,113,840 - 51,152,646 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11952,985,243 - 53,024,056 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01941,901,649 - 41,940,476 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11950,506,886 - 50,545,204 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1950,506,886 - 50,545,204 (+)Ensemblpanpan1.1panPan2
CLPTM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11110,471,164 - 110,500,229 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,471,559 - 110,500,175 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,952,245 - 109,981,306 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01111,000,930 - 111,029,995 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1111,000,702 - 111,029,939 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11110,675,710 - 110,704,762 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01110,311,112 - 110,340,185 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01111,179,980 - 111,209,048 (-)NCBIUU_Cfam_GSD_1.0
Clptm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934917,188,009 - 17,217,466 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367061,535,871 - 1,564,825 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367061,535,871 - 1,564,809 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLPTM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl651,413,602 - 51,441,816 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,411,774 - 51,441,644 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,293,515 - 47,323,677 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLPTM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,416,268 - 38,452,578 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl638,415,788 - 38,452,679 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607317,998,365 - 18,037,012 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clptm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249071,773,798 - 1,804,158 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249071,773,765 - 1,801,393 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLPTM1
87 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1 copy number loss See cases [RCV000512107] Chr19:44300416..45639540 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
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
GRCh37/hg19 19q13.32(chr19:45338895-45618902)x3 copy number gain not provided [RCV000752710] Chr19:45338895..45618902 [GRCh37]
Chr19:19q13.32		 benign
GRCh37/hg19 19q13.32(chr19:45473298-45477951)x1 copy number loss not provided [RCV000752711] Chr19:45473298..45477951 [GRCh37]
Chr19:19q13.32		 benign
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 19q13.32(chr19:45473298-45480708)x1 copy number loss not provided [RCV000752712] Chr19:45473298..45480708 [GRCh37]
Chr19:19q13.32		 benign
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_001294.4(CLPTM1):c.255C>T (p.Pro85=) single nucleotide variant CLPTM1-related disorder [RCV003978404]|not provided [RCV000963386] Chr19:44973156 [GRCh38]
Chr19:45476413 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.345T>C (p.Phe115=) single nucleotide variant CLPTM1-related disorder [RCV003983238]|not provided [RCV000879477] Chr19:44974474 [GRCh38]
Chr19:45477731 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV000920922] Chr19:44955416 [GRCh38]
Chr19:45458673 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.135G>A (p.Pro45=) single nucleotide variant CLPTM1-related disorder [RCV003975519]|not provided [RCV000880687] Chr19:44962025 [GRCh38]
Chr19:45465282 [GRCh37]
Chr19:19q13.32		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001294.4(CLPTM1):c.1429C>T (p.Arg477Trp) single nucleotide variant not specified [RCV004282054] Chr19:44991247 [GRCh38]
Chr19:45494505 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.556C>T (p.Arg186Cys) single nucleotide variant CLPTM1-related disorder [RCV003948382]|not provided [RCV000887276] Chr19:44977430 [GRCh38]
Chr19:45480687 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.1284C>T (p.Leu428=) single nucleotide variant not provided [RCV000889166] Chr19:44990546 [GRCh38]
Chr19:45493804 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.1458C>T (p.Leu486=) single nucleotide variant CLPTM1-related disorder [RCV003957932]|not provided [RCV000890286] Chr19:44991276 [GRCh38]
Chr19:45494534 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_001294.4(CLPTM1):c.1836C>T (p.Ala612=) single nucleotide variant not provided [RCV000912584] Chr19:44992723 [GRCh38]
Chr19:45495981 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1133-18C>G single nucleotide variant not provided [RCV001690699] Chr19:44990377 [GRCh38]
Chr19:45493635 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.264T>C (p.Ala88=) single nucleotide variant not provided [RCV001688324] Chr19:44973165 [GRCh38]
Chr19:45476422 [GRCh37]
Chr19:19q13.32		 benign
GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841) copy number gain not specified [RCV002052686] Chr19:45074342..46133841 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1463G>C (p.Gly488Ala) single nucleotide variant not specified [RCV004311568] Chr19:44991281 [GRCh38]
Chr19:45494539 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004199570] Chr19:44955400 [GRCh38]
Chr19:45458657 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.110C>T (p.Ala37Val) single nucleotide variant not specified [RCV004084427] Chr19:44962000 [GRCh38]
Chr19:45465257 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.68G>A (p.Gly23Asp) single nucleotide variant not specified [RCV004121293] Chr19:44955463 [GRCh38]
Chr19:45458720 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1814C>T (p.Pro605Leu) single nucleotide variant not specified [RCV004247066] Chr19:44992701 [GRCh38]
Chr19:45495959 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.750C>A (p.His250Gln) single nucleotide variant not specified [RCV004115500] Chr19:44986532 [GRCh38]
Chr19:45489790 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1837G>A (p.Glu613Lys) single nucleotide variant not specified [RCV004197141] Chr19:44992724 [GRCh38]
Chr19:45495982 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.53G>C (p.Gly18Ala) single nucleotide variant not specified [RCV004190683] Chr19:44955448 [GRCh38]
Chr19:45458705 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1766G>A (p.Arg589His) single nucleotide variant not specified [RCV004164555] Chr19:44992653 [GRCh38]
Chr19:45495911 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.835A>G (p.Ile279Val) single nucleotide variant CLPTM1-related disorder [RCV003410161]|not specified [RCV004095267] Chr19:44987220 [GRCh38]
Chr19:45490478 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.256G>A (p.Gly86Arg) single nucleotide variant not specified [RCV004599508] Chr19:44973157 [GRCh38]
Chr19:45476414 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.59G>A (p.Gly20Asp) single nucleotide variant CLPTM1-related disorder [RCV003918946]|not specified [RCV004074310] Chr19:44955454 [GRCh38]
Chr19:45458711 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.418G>A (p.Glu140Lys) single nucleotide variant not specified [RCV004226917] Chr19:44974547 [GRCh38]
Chr19:45477804 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1742A>G (p.Tyr581Cys) single nucleotide variant not specified [RCV004188552] Chr19:44992629 [GRCh38]
Chr19:45495887 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1831G>A (p.Val611Met) single nucleotide variant not specified [RCV004176554] Chr19:44992718 [GRCh38]
Chr19:45495976 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1856G>C (p.Gly619Ala) single nucleotide variant not specified [RCV004092384] Chr19:44992743 [GRCh38]
Chr19:45496001 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.913G>A (p.Val305Ile) single nucleotide variant not specified [RCV004081560] Chr19:44987298 [GRCh38]
Chr19:45490556 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1376A>G (p.Asp459Gly) single nucleotide variant not specified [RCV004119077] Chr19:44990902 [GRCh38]
Chr19:45494160 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1934C>G (p.Pro645Arg) single nucleotide variant not specified [RCV004170877] Chr19:44992821 [GRCh38]
Chr19:45496079 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.358G>A (p.Ala120Thr) single nucleotide variant not specified [RCV004169001] Chr19:44974487 [GRCh38]
Chr19:45477744 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1189T>G (p.Phe397Val) single nucleotide variant not specified [RCV004184675] Chr19:44990451 [GRCh38]
Chr19:45493709 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.538C>T (p.Arg180Trp) single nucleotide variant not specified [RCV004249214] Chr19:44977412 [GRCh38]
Chr19:45480669 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.221G>A (p.Arg74His) single nucleotide variant not specified [RCV004256994] Chr19:44973122 [GRCh38]
Chr19:45476379 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.94G>A (p.Gly32Arg) single nucleotide variant not specified [RCV004262337] Chr19:44961984 [GRCh38]
Chr19:45465241 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1988C>G (p.Ala663Gly) single nucleotide variant not specified [RCV004345065] Chr19:44992875 [GRCh38]
Chr19:45496133 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1335G>T (p.Glu445Asp) single nucleotide variant not specified [RCV004357541] Chr19:44990861 [GRCh38]
Chr19:45494119 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.464C>T (p.Pro155Leu) single nucleotide variant CLPTM1-related disorder [RCV003404276] Chr19:44974593 [GRCh38]
Chr19:45477850 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.654G>A (p.Ala218=) single nucleotide variant CLPTM1-related disorder [RCV003949488] Chr19:44985285 [GRCh38]
Chr19:45488543 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.198C>T (p.Ile66=) single nucleotide variant CLPTM1-related disorder [RCV003893669] Chr19:44973099 [GRCh38]
Chr19:45476356 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1433A>G (p.Tyr478Cys) single nucleotide variant CLPTM1-related disorder [RCV003959686] Chr19:44991251 [GRCh38]
Chr19:45494509 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.804C>T (p.Phe268=) single nucleotide variant CLPTM1-related disorder [RCV003936944] Chr19:44987189 [GRCh38]
Chr19:45490447 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1000T>C (p.Leu334=) single nucleotide variant CLPTM1-related disorder [RCV003964034] Chr19:44987385 [GRCh38]
Chr19:45490643 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1437G>C (p.Leu479=) single nucleotide variant CLPTM1-related disorder [RCV003979191] Chr19:44991255 [GRCh38]
Chr19:45494513 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.1039-9C>T single nucleotide variant CLPTM1-related disorder [RCV003961913] Chr19:44988071 [GRCh38]
Chr19:45491329 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.6G>A (p.Ala2=) single nucleotide variant CLPTM1-related disorder [RCV003937360] Chr19:44955401 [GRCh38]
Chr19:45458658 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1893C>T (p.Thr631=) single nucleotide variant CLPTM1-related disorder [RCV003944260] Chr19:44992780 [GRCh38]
Chr19:45496038 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.897C>T (p.Ala299=) single nucleotide variant CLPTM1-related disorder [RCV003909791] Chr19:44987282 [GRCh38]
Chr19:45490540 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.270C>T (p.Arg90=) single nucleotide variant CLPTM1-related disorder [RCV003947066] Chr19:44973171 [GRCh38]
Chr19:45476428 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001282175.2(CLPTM1):c.30+1G>T single nucleotide variant CLPTM1-related disorder [RCV003921974] Chr19:44955086 [GRCh38]
Chr19:45458343 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.73-5C>A single nucleotide variant CLPTM1-related disorder [RCV003969447] Chr19:44961958 [GRCh38]
Chr19:45465215 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.468+5G>A single nucleotide variant CLPTM1-related disorder [RCV003929485] Chr19:44974602 [GRCh38]
Chr19:45477859 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.1322G>A (p.Arg441Gln) single nucleotide variant CLPTM1-related disorder [RCV003917327] Chr19:44990584 [GRCh38]
Chr19:45493842 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1950C>T (p.Ser650=) single nucleotide variant CLPTM1-related disorder [RCV003929722] Chr19:44992837 [GRCh38]
Chr19:45496095 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.852C>T (p.Tyr284=) single nucleotide variant CLPTM1-related disorder [RCV003923843] Chr19:44987237 [GRCh38]
Chr19:45490495 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.657C>T (p.Asp219=) single nucleotide variant CLPTM1-related disorder [RCV003949618] Chr19:44985288 [GRCh38]
Chr19:45488546 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.912C>T (p.Arg304=) single nucleotide variant CLPTM1-related disorder [RCV003912070] Chr19:44987297 [GRCh38]
Chr19:45490555 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1644C>T (p.Ala548=) single nucleotide variant CLPTM1-related disorder [RCV003894724] Chr19:44992321 [GRCh38]
Chr19:45495579 [GRCh37]
Chr19:19q13.32		 benign
NM_001294.4(CLPTM1):c.1770C>T (p.Val590=) single nucleotide variant CLPTM1-related disorder [RCV003914672] Chr19:44992657 [GRCh38]
Chr19:45495915 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.249G>A (p.Ala83=) single nucleotide variant CLPTM1-related disorder [RCV003909732] Chr19:44973150 [GRCh38]
Chr19:45476407 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1724-6C>T single nucleotide variant CLPTM1-related disorder [RCV003897390] Chr19:44992605 [GRCh38]
Chr19:45495863 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.1181G>T (p.Arg394Leu) single nucleotide variant not specified [RCV004437288] Chr19:44990443 [GRCh38]
Chr19:45493701 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1274T>C (p.Ile425Thr) single nucleotide variant not specified [RCV004437290] Chr19:44990536 [GRCh38]
Chr19:45493794 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.356A>G (p.Asn119Ser) single nucleotide variant not specified [RCV004437297] Chr19:44974485 [GRCh38]
Chr19:45477742 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.104C>T (p.Pro35Leu) single nucleotide variant not specified [RCV004613142] Chr19:44961994 [GRCh38]
Chr19:45465251 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1360C>T (p.Arg454Cys) single nucleotide variant not specified [RCV004613138] Chr19:44990886 [GRCh38]
Chr19:45494144 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1244C>T (p.Thr415Ile) single nucleotide variant not specified [RCV004437289] Chr19:44990506 [GRCh38]
Chr19:45493764 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.457G>A (p.Asp153Asn) single nucleotide variant not specified [RCV004437298] Chr19:44974586 [GRCh38]
Chr19:45477843 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.886G>A (p.Glu296Lys) single nucleotide variant not specified [RCV004437301] Chr19:44987271 [GRCh38]
Chr19:45490529 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1282C>T (p.Leu428Phe) single nucleotide variant not specified [RCV004437291] Chr19:44990544 [GRCh38]
Chr19:45493802 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1474G>A (p.Val492Ile) single nucleotide variant not specified [RCV004437293] Chr19:44991292 [GRCh38]
Chr19:45494550 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1825G>A (p.Ala609Thr) single nucleotide variant not specified [RCV004437295] Chr19:44992712 [GRCh38]
Chr19:45495970 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1282C>G (p.Leu428Val) single nucleotide variant not specified [RCV004613145] Chr19:44990544 [GRCh38]
Chr19:45493802 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.40G>A (p.Val14Met) single nucleotide variant not specified [RCV004613141] Chr19:44955435 [GRCh38]
Chr19:45458692 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.220C>T (p.Arg74Cys) single nucleotide variant not specified [RCV004613139] Chr19:44973121 [GRCh38]
Chr19:45476378 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.400G>A (p.Gly134Ser) single nucleotide variant not specified [RCV004613143] Chr19:44974529 [GRCh38]
Chr19:45477786 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.439G>A (p.Glu147Lys) single nucleotide variant not specified [RCV004613144] Chr19:44974568 [GRCh38]
Chr19:45477825 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.884A>G (p.Asn295Ser) single nucleotide variant CLPTM1-related disorder [RCV004730791] Chr19:44987269 [GRCh38]
Chr19:45490527 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.53G>A (p.Gly18Glu) single nucleotide variant CLPTM1-related disorder [RCV004751117] Chr19:44955448 [GRCh38]
Chr19:45458705 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.700G>A (p.Val234Met) single nucleotide variant not specified [RCV004437300] Chr19:44986482 [GRCh38]
Chr19:45489740 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1393G>A (p.Glu465Lys) single nucleotide variant CLPTM1-related disorder [RCV004750887]|not specified [RCV004338882] Chr19:44990919 [GRCh38]
Chr19:45494177 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1303A>T (p.Thr435Ser) single nucleotide variant not specified [RCV004437292] Chr19:44990565 [GRCh38]
Chr19:45493823 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001294.4(CLPTM1):c.1554C>T (p.Phe518=) single nucleotide variant not specified [RCV004437294] Chr19:44991372 [GRCh38]
Chr19:45494630 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001294.4(CLPTM1):c.460A>G (p.Ile154Val) single nucleotide variant not specified [RCV004437299] Chr19:44974589 [GRCh38]
Chr19:45477846 [GRCh37]
Chr19:19q13.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4083
Count of miRNA genes:1004
Interacting mature miRNAs:1258
Transcripts:ENST00000337392, ENST00000541297, ENST00000546079, ENST00000585961, ENST00000586915, ENST00000586975, ENST00000587537, ENST00000588274, ENST00000588855, ENST00000589158, ENST00000589347, ENST00000591304
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407092674GWAS741650_Hphospholipids:total lipids ratio QTL GWAS741650 (human)4e-21phospholipids:total lipids ratio194496720144967202Human
407041473GWAS690449_Hlevel of Phosphatidylethanolamine (O-18:1_20:4) in blood serum QTL GWAS690449 (human)2e-08level of Phosphatidylethanolamine (O-18:1_20:4) in blood serum194498737844987379Human
407240138GWAS889114_Hintermediate density lipoprotein measurement QTL GWAS889114 (human)3e-09intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)194496387544963876Human
407310676GWAS959652_Hlow density lipoprotein cholesterol measurement QTL GWAS959652 (human)3e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194496664544966646Human
407338835GWAS987811_Hlow density lipoprotein cholesterol measurement QTL GWAS987811 (human)5e-21low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194497412444974125Human
407118302GWAS767278_Hsexual dimorphism measurement QTL GWAS767278 (human)7e-10sexual dimorphism measurement194499037744990378Human
407243494GWAS892470_Hbody height QTL GWAS892470 (human)3e-41body height (VT:0001253)body height (CMO:0000106)194495750744957508Human
407204835GWAS853811_Hblood protein measurement QTL GWAS853811 (human)4e-28blood protein measurementblood protein measurement (CMO:0000028)194498046444980465Human
406919912GWAS568888_Hlow density lipoprotein cholesterol measurement QTL GWAS568888 (human)9e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194498702744987028Human
407327725GWAS976701_Hlow density lipoprotein cholesterol measurement QTL GWAS976701 (human)5e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194496012944960130Human
407343084GWAS992060_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS992060 (human)1e-27phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194498392144983922Human
407245802GWAS894778_Hapolipoprotein A 1 measurement QTL GWAS894778 (human)8e-21apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)194495872344958724Human
407187816GWAS836792_Htriglyceride measurement, high density lipoprotein cholesterol measurement QTL GWAS836792 (human)5e-10triglyceride measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194498392144983922Human
407314921GWAS963897_Hesterified cholesterol measurement QTL GWAS963897 (human)2e-10esterified cholesterol measurement194496012944960130Human
406928239GWAS577215_Hsleep duration, high density lipoprotein cholesterol measurement QTL GWAS577215 (human)2e-15sleep duration, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194498392144983922Human
407187690GWAS836666_HC-reactive protein measurement QTL GWAS836666 (human)3e-19C-reactive protein measurementblood C-reactive protein level (CMO:0003160)194496664544966646Human
407330024GWAS979000_HAlzheimer disease, polygenic risk score QTL GWAS979000 (human)8e-19Alzheimer disease, polygenic risk score194497385444973855Human
407243506GWAS892482_Hapolipoprotein B measurement QTL GWAS892482 (human)1e-18apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)194497412444974125Human
407309425GWAS958401_Hlow density lipoprotein cholesterol measurement QTL GWAS958401 (human)7e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194495872344958724Human
407077242GWAS726218_Hlevel of Phosphatidylethanolamine (O-18:1_20:4) in blood serum QTL GWAS726218 (human)3e-08level of Phosphatidylethanolamine (O-18:1_20:4) in blood serum194498737844987379Human
406921722GWAS570698_HC-reactive protein measurement QTL GWAS570698 (human)4e-33C-reactive protein measurementblood C-reactive protein level (CMO:0003160)194496307844963079Human
407142789GWAS791765_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS791765 (human)1e-23Alzheimer disease, family history of Alzheimer’s disease194498693444986935Human
407344517GWAS993493_Hhigh density lipoprotein cholesterol measurement QTL GWAS993493 (human)4e-16high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194497412444974125Human
407078401GWAS727377_H1-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement QTL GWAS727377 (human)7e-121-(1-enyl-stearoyl)-2-linoleoyl-GPE (P-18:0/18:2)* measurement194498392144983922Human
407240064GWAS889040_Hapolipoprotein A 1 measurement, apolipoprotein B measurement QTL GWAS889040 (human)2e-08apolipoprotein A 1 measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)194496387544963876Human
407330818GWAS979794_HAlzheimer disease, polygenic risk score QTL GWAS979794 (human)4e-64Alzheimer disease, polygenic risk score194497397444973975Human
407185807GWAS834783_Htotal cholesterol measurement QTL GWAS834783 (human)6e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)194496664544966646Human
407142543GWAS791519_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS791519 (human)7e-50Alzheimer disease, family history of Alzheimer’s disease194496012944960130Human
407298185GWAS947161_Hcholesteryl ester measurement, very low density lipoprotein cholesterol measurement QTL GWAS947161 (human)4e-09blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)194496012944960130Human
407286921GWAS935897_Hgranulocyte colony-stimulating factor measurement QTL GWAS935897 (human)2e-21granulocyte colony-stimulating factor measurement194496720144967202Human
406894736GWAS543712_Hbody surface area QTL GWAS543712 (human)1e-08body surface area194496720144967202Human
407143956GWAS792932_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS792932 (human)6e-09Alzheimer disease, family history of Alzheimer’s disease194497385444973855Human
407142420GWAS791396_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS791396 (human)5e-08Alzheimer disease, family history of Alzheimer’s disease194498289144982892Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407172368GWAS821344_Halkaline phosphatase measurement QTL GWAS821344 (human)1e-10alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)194495872344958724Human
407172369GWAS821345_Halkaline phosphatase measurement QTL GWAS821345 (human)8e-10alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)194496664544966646Human
406913943GWAS562919_Hbreast density QTL GWAS562919 (human)0.000003breast density194498597644985977Human
407188252GWAS837228_HC-reactive protein measurement QTL GWAS837228 (human)2e-20C-reactive protein measurementblood C-reactive protein level (CMO:0003160)194495872344958724Human
407042971GWAS691947_Hsexual dimorphism measurement QTL GWAS691947 (human)6e-10sexual dimorphism measurement194496765644967657Human
407143710GWAS792686_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS792686 (human)2e-11Alzheimer disease, family history of Alzheimer’s disease194496014144960142Human
407249306GWAS898282_Hapolipoprotein B measurement QTL GWAS898282 (human)2e-21apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)194495872344958724Human
407195545GWAS844521_HAlzheimer disease, educational attainment QTL GWAS844521 (human)1e-19Alzheimer disease, educational attainment194496012944960130Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human
407322532GWAS971508_Htriglyceride measurement QTL GWAS971508 (human)4e-09triglyceride measurementblood triglyceride level (CMO:0000118)194495872344958724Human
407134631GWAS783607_HIGA glomerulonephritis QTL GWAS783607 (human)0.000002IGA glomerulonephritis194498392144983922Human
407143713GWAS792689_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS792689 (human)9e-11Alzheimer disease, family history of Alzheimer’s disease194495873944958740Human
407277219GWAS926195_Htotal cholesterol measurement QTL GWAS926195 (human)3e-30total cholesterol measurementblood total cholesterol level (CMO:0000051)194497412444974125Human
407313825GWAS962801_Hfree cholesterol measurement QTL GWAS962801 (human)7e-13free cholesterol measurementblood cholesterol level (CMO:0002280)194496012944960130Human
407288620GWAS937596_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS937596 (human)7e-11blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)194496012944960130Human
407318956GWAS967932_Hremnant cholesterol measurement QTL GWAS967932 (human)1e-10remnant cholesterol measurement194496012944960130Human
407099182GWAS748158_Hcholesteryl esters to total lipids in small LDL percentage QTL GWAS748158 (human)4e-11cholesteryl esters to total lipids in small LDL percentage 194496704144967042Human
407347511GWAS996487_Hhigh density lipoprotein cholesterol measurement QTL GWAS996487 (human)4e-17high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194495872344958724Human
407312695GWAS961671_Hhigh density lipoprotein cholesterol measurement QTL GWAS961671 (human)4e-11high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)194498777444987775Human
407314483GWAS963459_Htotal cholesterol measurement QTL GWAS963459 (human)3e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)194496012944960130Human
406928693GWAS577669_Hapolipoprotein B measurement QTL GWAS577669 (human)3e-36apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)194496387544963876Human
407125811GWAS774787_Hsexual dimorphism measurement QTL GWAS774787 (human)4e-09sexual dimorphism measurement194496298144962982Human
407164979GWAS813955_Hapolipoprotein B measurement QTL GWAS813955 (human)4e-11apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)194496664544966646Human
407322559GWAS971535_Hlow density lipoprotein cholesterol measurement QTL GWAS971535 (human)6e-30low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)194498392144983922Human
407041465GWAS690441_Hlevel of Phosphatidylethanolamine (O-18:2_20:4) in blood serum QTL GWAS690441 (human)3e-08level of Phosphatidylethanolamine (O-18:2_20:4) in blood serum194498392144983922Human

Markers in Region
G18054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,487,822 - 45,487,925UniSTSGRCh37
Build 361950,179,662 - 50,179,765RGDNCBI36
Celera1942,292,136 - 42,292,238RGD
Cytogenetic Map19q13.3UniSTS
HuRef1941,918,361 - 41,918,463UniSTS
RH91487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,496,323 - 45,496,509UniSTSGRCh37
Build 361950,188,163 - 50,188,349RGDNCBI36
Celera1942,300,637 - 42,300,823RGD
Cytogenetic Map19q13.3UniSTS
HuRef1941,926,862 - 41,927,048UniSTS
GeneMap99-GB4 RH Map19250.82UniSTS
SHGC-89260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,458,058 - 45,458,344UniSTSGRCh37
Build 361950,149,898 - 50,150,184RGDNCBI36
Celera1942,262,371 - 42,262,657RGD
Cytogenetic Map19q13.3UniSTS
HuRef1941,888,600 - 41,888,886UniSTS
TNG Radiation Hybrid Map1916919.0UniSTS
RH47704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,495,983 - 45,496,138UniSTSGRCh37
Build 361950,187,823 - 50,187,978RGDNCBI36
Celera1942,300,297 - 42,300,452RGD
Cytogenetic Map19q13.3UniSTS
HuRef1941,926,522 - 41,926,677UniSTS
GeneMap99-GB4 RH Map19250.35UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1950 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF037339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI916245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM676309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ574654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB033341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC313765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC383798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY033360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337392   ⟹   ENSP00000336994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,955,380 - 44,993,341 (+)Ensembl
Ensembl Acc Id: ENST00000541297   ⟹   ENSP00000442011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,954,591 - 44,993,196 (+)Ensembl
Ensembl Acc Id: ENST00000546079   ⟹   ENSP00000443192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,954,591 - 44,993,190 (+)Ensembl
Ensembl Acc Id: ENST00000585961   ⟹   ENSP00000465731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,955,558 - 44,974,490 (+)Ensembl
Ensembl Acc Id: ENST00000586915   ⟹   ENSP00000468310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,992,268 - 44,993,194 (+)Ensembl
Ensembl Acc Id: ENST00000586975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,989,984 - 44,991,259 (+)Ensembl
Ensembl Acc Id: ENST00000587537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,974,547 - 44,986,936 (+)Ensembl
Ensembl Acc Id: ENST00000588274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,986,904 - 44,990,585 (+)Ensembl
Ensembl Acc Id: ENST00000588855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,954,585 - 44,987,862 (+)Ensembl
Ensembl Acc Id: ENST00000589158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,984,287 - 44,987,390 (+)Ensembl
Ensembl Acc Id: ENST00000589347   ⟹   ENSP00000464985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,987,361 - 44,992,636 (+)Ensembl
Ensembl Acc Id: ENST00000591304   ⟹   ENSP00000467927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1944,955,381 - 44,985,303 (+)Ensembl
RefSeq Acc Id: NM_001282175   ⟹   NP_001269104
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,954,993 - 44,993,341 (+)NCBI
HuRef1941,888,384 - 41,927,143 (+)NCBI
CHM1_11945,461,337 - 45,499,697 (+)NCBI
T2T-CHM13v2.01947,779,827 - 47,818,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282176   ⟹   NP_001269105
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,954,585 - 44,993,341 (+)NCBI
HuRef1941,888,384 - 41,927,143 (+)NCBI
CHM1_11945,460,929 - 45,499,697 (+)NCBI
T2T-CHM13v2.01947,779,419 - 47,818,179 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001294   ⟹   NP_001285
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,955,380 - 44,993,341 (+)NCBI
GRCh371945,457,842 - 45,496,604 (+)ENTREZGENE
Build 361950,150,478 - 50,188,439 (+)NCBI Archive
Celera1942,262,951 - 42,300,913 (+)RGD
HuRef1941,888,384 - 41,927,143 (+)ENTREZGENE
CHM1_11945,461,568 - 45,499,697 (+)NCBI
T2T-CHM13v2.01947,780,214 - 47,818,179 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001285   ⟸   NM_001294
- Peptide Label: isoform 2
- UniProtKB: Q53ET6 (UniProtKB/Swiss-Prot),   F5H8J3 (UniProtKB/Swiss-Prot),   B7Z9X9 (UniProtKB/Swiss-Prot),   B4E2X9 (UniProtKB/Swiss-Prot),   B4DDS3 (UniProtKB/Swiss-Prot),   B3KQH2 (UniProtKB/Swiss-Prot),   Q9BSS5 (UniProtKB/Swiss-Prot),   O96005 (UniProtKB/Swiss-Prot),   A0A0S2Z3H2 (UniProtKB/TrEMBL),   A0A0S2Z3H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269105   ⟸   NM_001282176
- Peptide Label: isoform 4
- UniProtKB: A0A0S2Z3H6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269104   ⟸   NM_001282175
- Peptide Label: isoform 3
- UniProtKB: A0A0S2Z3H6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000442011   ⟸   ENST00000541297
Ensembl Acc Id: ENSP00000443192   ⟸   ENST00000546079
Ensembl Acc Id: ENSP00000465731   ⟸   ENST00000585961
Ensembl Acc Id: ENSP00000468310   ⟸   ENST00000586915
Ensembl Acc Id: ENSP00000336994   ⟸   ENST00000337392
Ensembl Acc Id: ENSP00000464985   ⟸   ENST00000589347
Ensembl Acc Id: ENSP00000467927   ⟸   ENST00000591304

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O96005-F1-model_v2 AlphaFold O96005 1-669 view protein structure

Promoters
RGD ID:7240367
Promoter ID:EPDNEW_H25929
Type:initiation region
Name:CLPTM1_2
Description:CLPTM1, transmembrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25930  EPDNEW_H25931  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,946,051 - 44,946,111EPDNEW
RGD ID:7240369
Promoter ID:EPDNEW_H25930
Type:multiple initiation site
Name:CLPTM1_3
Description:CLPTM1, transmembrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25929  EPDNEW_H25931  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,954,600 - 44,954,660EPDNEW
RGD ID:7240371
Promoter ID:EPDNEW_H25931
Type:multiple initiation site
Name:CLPTM1_1
Description:CLPTM1, transmembrane protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25929  EPDNEW_H25930  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381944,955,380 - 44,955,440EPDNEW
RGD ID:6795412
Promoter ID:HG_KWN:30247
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337392,   ENST00000347493
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,150,024 - 50,150,524 (+)MPROMDB
RGD ID:6852222
Promoter ID:EP73917
Type:initiation region
Name:HS_CLPTM1
Description:Cleft lip and palate associated transmembrane protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,150,442 - 50,150,502EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2087 AgrOrtholog
COSMIC CLPTM1 COSMIC
Ensembl Genes ENSG00000104853 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337392 ENTREZGENE
  ENST00000337392.10 UniProtKB/Swiss-Prot
  ENST00000541297 ENTREZGENE
  ENST00000541297.6 UniProtKB/Swiss-Prot
  ENST00000546079 ENTREZGENE
  ENST00000546079.5 UniProtKB/Swiss-Prot
  ENST00000585961.1 UniProtKB/TrEMBL
  ENST00000586915.1 UniProtKB/TrEMBL
  ENST00000589347.1 UniProtKB/TrEMBL
  ENST00000591304.1 UniProtKB/TrEMBL
GTEx ENSG00000104853 GTEx
HGNC ID HGNC:2087 ENTREZGENE
Human Proteome Map CLPTM1 Human Proteome Map
InterPro CLPTM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1209 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1209 ENTREZGENE
OMIM 604783 OMIM
PANTHER CLEFT LIP AND PALATE TRANSMEMBRANE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CLPTM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26613 PharmGKB
UniProt A0A0S2Z3H2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3H6 ENTREZGENE, UniProtKB/TrEMBL
  B3KQH2 ENTREZGENE
  B4DDS3 ENTREZGENE
  B4E2X9 ENTREZGENE
  B7Z9X9 ENTREZGENE
  CLPT1_HUMAN UniProtKB/Swiss-Prot
  F5H8J3 ENTREZGENE
  K7EJ16_HUMAN UniProtKB/TrEMBL
  K7EKQ7_HUMAN UniProtKB/TrEMBL
  K7EQQ1_HUMAN UniProtKB/TrEMBL
  K7ERL5_HUMAN UniProtKB/TrEMBL
  O96005 ENTREZGENE
  Q53ET6 ENTREZGENE
  Q9BSS5 ENTREZGENE
UniProt Secondary B3KQH2 UniProtKB/Swiss-Prot
  B4DDS3 UniProtKB/Swiss-Prot
  B4E2X9 UniProtKB/Swiss-Prot
  B7Z9X9 UniProtKB/Swiss-Prot
  F5H8J3 UniProtKB/Swiss-Prot
  Q53ET6 UniProtKB/Swiss-Prot
  Q9BSS5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 CLPTM1  CLPTM1 regulator of GABA type A receptor forward trafficking    CLPTM1, transmembrane protein  Symbol and/or name change 5135510 APPROVED
2016-05-17 CLPTM1  CLPTM1, transmembrane protein    cleft lip and palate associated transmembrane protein 1  Symbol and/or name change 5135510 APPROVED