CALHM1 (calcium homeostasis modulator 1) - Rat Genome Database

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Gene: CALHM1 (calcium homeostasis modulator 1) Homo sapiens
Analyze
Symbol: CALHM1
Name: calcium homeostasis modulator 1
RGD ID: 1603161
HGNC Page HGNC:23494
Description: Enables calcium-activated cation channel activity; identical protein binding activity; and voltage-gated monoatomic ion channel activity. Involved in monoatomic cation transport; protein homooligomerization; and regulation of monoatomic ion transmembrane transport. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium homeostasis modulator protein 1; FAM26C; family with sequence similarity 26, member C; MGC39514; MGC39617
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
GRCh3810103,453,240 - 103,458,900 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10103,453,240 - 103,458,900 (-)EnsemblGRCh38hg38GRCh38
GRCh3710105,212,997 - 105,218,657 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610105,203,134 - 105,208,635 (-)NCBINCBI36Build 36hg18NCBI36
Celera1098,953,076 - 98,958,583 (-)NCBICelera
Cytogenetic Map10q24.33NCBI
HuRef1098,843,915 - 98,849,422 (-)NCBIHuRef
CHM1_110105,497,261 - 105,502,768 (-)NCBICHM1_1
T2T-CHM13v2.010104,340,546 - 104,346,206 (-)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15164054   PMID:15489334   PMID:18585350   PMID:18667147   PMID:19038093   PMID:19070563   PMID:19191331   PMID:19191332   PMID:19472444   PMID:19545933   PMID:19655363  
PMID:19944073   PMID:20005921   PMID:20061624   PMID:20164573   PMID:20164592   PMID:20164602   PMID:20534741   PMID:20574532   PMID:20592574   PMID:20634593   PMID:20847397   PMID:21378601  
PMID:21439911   PMID:21574960   PMID:21629967   PMID:21873635   PMID:22711817   PMID:22874670   PMID:23300080   PMID:23345406   PMID:23467090   PMID:23884934   PMID:23974872   PMID:24069280  
PMID:24326043   PMID:24630757   PMID:25386646   PMID:26416646   PMID:26700797   PMID:26944452   PMID:28597712   PMID:32814053   PMID:32832629   PMID:33199024   PMID:35844135  


Genomics

Comparative Map Data
CALHM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810103,453,240 - 103,458,900 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10103,453,240 - 103,458,900 (-)EnsemblGRCh38hg38GRCh38
GRCh3710105,212,997 - 105,218,657 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610105,203,134 - 105,208,635 (-)NCBINCBI36Build 36hg18NCBI36
Celera1098,953,076 - 98,958,583 (-)NCBICelera
Cytogenetic Map10q24.33NCBI
HuRef1098,843,915 - 98,849,422 (-)NCBIHuRef
CHM1_110105,497,261 - 105,502,768 (-)NCBICHM1_1
T2T-CHM13v2.010104,340,546 - 104,346,206 (-)NCBIT2T-CHM13v2.0
Calhm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391947,129,474 - 47,132,613 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1947,129,348 - 47,132,693 (-)EnsemblGRCm39 Ensembl
GRCm381947,141,035 - 47,144,174 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1947,140,909 - 47,144,254 (-)EnsemblGRCm38mm10GRCm38
MGSCv371947,215,525 - 47,218,664 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361947,194,346 - 47,197,485 (-)NCBIMGSCv36mm8
Celera1947,910,334 - 47,913,457 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1939.36NCBI
Calhm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81255,971,606 - 255,974,325 (-)NCBIGRCr8
mRatBN7.21246,030,269 - 246,032,988 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1246,030,269 - 246,032,988 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1254,156,999 - 254,159,718 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01260,850,555 - 260,853,274 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01253,499,070 - 253,501,789 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01266,916,312 - 266,919,031 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1266,916,312 - 266,919,031 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01274,346,723 - 274,349,442 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41252,462,890 - 252,465,609 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1241,802,794 - 241,805,513 (-)NCBICelera
Cytogenetic Map1q54NCBI
Calhm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554857,102,059 - 7,105,396 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554857,102,059 - 7,105,396 (+)NCBIChiLan1.0ChiLan1.0
CALHM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28115,330,822 - 115,342,992 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110115,342,398 - 115,348,321 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010100,048,560 - 100,056,483 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110103,511,873 - 103,517,376 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10103,511,873 - 103,517,376 (-)Ensemblpanpan1.1panPan2
CALHM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12815,821,121 - 15,826,029 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2815,814,429 - 15,825,924 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2815,993,041 - 15,997,318 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02816,297,314 - 16,301,591 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2816,290,589 - 16,301,471 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12815,846,318 - 15,850,594 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02815,874,149 - 15,878,424 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02816,012,767 - 16,017,044 (-)NCBIUU_Cfam_GSD_1.0
Calhm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721331,016,885 - 31,019,778 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366002,620,110 - 2,623,003 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366002,620,110 - 2,623,003 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100157433
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14114,380,479 - 114,385,694 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1 Ensembl14114,386,878 - 114,392,258 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114114,380,467 - 114,393,845 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CALHM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1996,500,716 - 96,507,439 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl996,502,577 - 96,506,072 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604857,616,922 - 57,622,415 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Calhm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248312,681,170 - 2,683,716 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248312,681,129 - 2,685,278 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CALHM1
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 copy number loss See cases [RCV000052568] Chr10:102243341..103929730 [GRCh38]
Chr10:104003098..105689488 [GRCh37]
Chr10:103993088..105679478 [NCBI36]
Chr10:10q24.32-24.33		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
NM_015916.4(CALHM2):c.440A>G (p.His147Arg) single nucleotide variant Malignant melanoma [RCV000061985] Chr10:103449502 [GRCh38]
Chr10:105209259 [GRCh37]
Chr10:105199249 [NCBI36]
Chr10:10q24.33		 not provided
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q24.33(chr10:105153957-105215292)x3 copy number gain See cases [RCV000447439] Chr10:105153957..105215292 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
NM_001001412.4(CALHM1):c.461G>A (p.Arg154His) single nucleotide variant not provided [RCV000424150] Chr10:103458291 [GRCh38]
Chr10:105218048 [GRCh37]
Chr10:10q24.33		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q24.32-24.33(chr10:104853173-105357653)x4 copy number gain See cases [RCV000448445] Chr10:104853173..105357653 [GRCh37]
Chr10:10q24.32-24.33		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001001412.4(CALHM1):c.701C>T (p.Thr234Met) single nucleotide variant not specified [RCV004293677] Chr10:103455602 [GRCh38]
Chr10:105215359 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 copy number loss not provided [RCV000683260] Chr10:103891057..105339973 [GRCh37]
Chr10:10q24.32-24.33		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q24.33(chr10:104915309-105332773)x3 copy number gain not provided [RCV000848759] Chr10:104915309..105332773 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10q24.33(chr10:104915576-105241844)x3 copy number gain not provided [RCV001006352] Chr10:104915576..105241844 [GRCh37]
Chr10:10q24.33		 uncertain significance
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1		 uncertain significance
NM_001001412.4(CALHM1):c.457G>A (p.Ala153Thr) single nucleotide variant not provided [RCV000962424] Chr10:103458295 [GRCh38]
Chr10:105218052 [GRCh37]
Chr10:10q24.33		 benign
GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)x3 copy number gain not provided [RCV001258465] Chr10:104883845..105482700 [GRCh37]
Chr10:10q24.32-24.33		 uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q24.33(chr10:105064606-105508469) copy number gain not specified [RCV002052886] Chr10:105064606..105508469 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.601G>A (p.Val201Met) single nucleotide variant not specified [RCV004314143] Chr10:103455702 [GRCh38]
Chr10:105215459 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3 copy number gain not provided [RCV002473485] Chr10:105015345..105911204 [GRCh37]
Chr10:10q24.33-25.1		 uncertain significance
NM_001001412.4(CALHM1):c.266G>A (p.Arg89Gln) single nucleotide variant not specified [RCV004191970] Chr10:103458486 [GRCh38]
Chr10:105218243 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.932C>T (p.Pro311Leu) single nucleotide variant not specified [RCV004146094] Chr10:103455371 [GRCh38]
Chr10:105215128 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.871C>T (p.Arg291Cys) single nucleotide variant not specified [RCV004220986] Chr10:103455432 [GRCh38]
Chr10:105215189 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.475G>A (p.Val159Met) single nucleotide variant not specified [RCV004134692] Chr10:103458277 [GRCh38]
Chr10:105218034 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.416G>C (p.Gly139Ala) single nucleotide variant not specified [RCV004133062] Chr10:103458336 [GRCh38]
Chr10:105218093 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.976G>A (p.Gly326Ser) single nucleotide variant not specified [RCV004197197] Chr10:103455327 [GRCh38]
Chr10:105215084 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.848C>T (p.Ala283Val) single nucleotide variant not specified [RCV004134862] Chr10:103455455 [GRCh38]
Chr10:105215212 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.955G>A (p.Glu319Lys) single nucleotide variant not specified [RCV004083026] Chr10:103455348 [GRCh38]
Chr10:105215105 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.814G>A (p.Ala272Thr) single nucleotide variant not specified [RCV004165654] Chr10:103455489 [GRCh38]
Chr10:105215246 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.514G>C (p.Ala172Pro) single nucleotide variant not specified [RCV004168365] Chr10:103458238 [GRCh38]
Chr10:105217995 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.100A>T (p.Met34Leu) single nucleotide variant not specified [RCV004272622] Chr10:103458652 [GRCh38]
Chr10:105218409 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.290G>A (p.Arg97His) single nucleotide variant not specified [RCV004267925] Chr10:103458462 [GRCh38]
Chr10:105218219 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.961C>A (p.Pro321Thr) single nucleotide variant not specified [RCV004262120] Chr10:103455342 [GRCh38]
Chr10:105215099 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001001412.4(CALHM1):c.982G>T (p.Ala328Ser) single nucleotide variant not specified [RCV004318918] Chr10:103455321 [GRCh38]
Chr10:105215078 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.353C>T (p.Thr118Met) single nucleotide variant not specified [RCV004349748] Chr10:103458399 [GRCh38]
Chr10:105218156 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.175G>A (p.Ala59Thr) single nucleotide variant not provided [RCV003422854] Chr10:103458577 [GRCh38]
Chr10:105218334 [GRCh37]
Chr10:10q24.33		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NC_000010.11:g.(102444036_?)_(?_104726221)del deletion Desmoplastic/nodular medulloblastoma [RCV000003754] Chr10:102444036..104726221 [GRCh38]
Chr10:10q24.32-25.1		 pathogenic
NM_001001412.4(CALHM1):c.1012G>A (p.Glu338Lys) single nucleotide variant not specified [RCV004434529] Chr10:103455291 [GRCh38]
Chr10:105215048 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.638C>T (p.Ala213Val) single nucleotide variant not specified [RCV004434536] Chr10:103455665 [GRCh38]
Chr10:105215422 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.617G>A (p.Arg206Gln) single nucleotide variant not specified [RCV004434535] Chr10:103455686 [GRCh38]
Chr10:105215443 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.485C>T (p.Pro162Leu) single nucleotide variant not specified [RCV004434534] Chr10:103458267 [GRCh38]
Chr10:105218024 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.149C>T (p.Ala50Val) single nucleotide variant not specified [RCV004434530] Chr10:103458603 [GRCh38]
Chr10:105218360 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.329C>T (p.Ala110Val) single nucleotide variant not specified [RCV004434532] Chr10:103458423 [GRCh38]
Chr10:105218180 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.319G>A (p.Ala107Thr) single nucleotide variant not specified [RCV004434531] Chr10:103458433 [GRCh38]
Chr10:105218190 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.403G>A (p.Val135Met) single nucleotide variant not specified [RCV004434533] Chr10:103458349 [GRCh38]
Chr10:105218106 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.682C>A (p.Arg228Ser) single nucleotide variant not specified [RCV004434537] Chr10:103455621 [GRCh38]
Chr10:105215378 [GRCh37]
Chr10:10q24.33		 uncertain significance
NM_001001412.4(CALHM1):c.889G>T (p.Gly297Cys) single nucleotide variant not specified [RCV004434538] Chr10:103455414 [GRCh38]
Chr10:105215171 [GRCh37]
Chr10:10q24.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:935
Count of miRNA genes:630
Interacting mature miRNAs:710
Transcripts:ENST00000329905
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human

Markers in Region
SHGC-149649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710105,214,610 - 105,214,949UniSTSGRCh37
Build 3610105,204,600 - 105,204,939RGDNCBI36
Celera1098,954,545 - 98,954,884RGD
Cytogenetic Map10q24.33UniSTS
HuRef1098,845,384 - 98,845,723UniSTS
TNG Radiation Hybrid Map1050432.0UniSTS


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 entire extraembryonic component
High
Medium 6 1 2 19 3 2 1 1 1 2 2
Low 22 5 50 1 341 1 129 6 1358 3 44 52 1 4
Below cutoff 1922 2348 1085 211 1244 90 3075 1443 2105 163 1211 1178 128 1057 1996 1

Sequence


Ensembl Acc Id: ENST00000329905   ⟹   ENSP00000329926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10103,453,240 - 103,458,900 (-)Ensembl
RefSeq Acc Id: NM_001001412   ⟹   NP_001001412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810103,453,240 - 103,458,900 (-)NCBI
GRCh3710105,213,144 - 105,218,648 (-)ENTREZGENE
Build 3610105,203,134 - 105,208,635 (-)NCBI Archive
HuRef1098,843,915 - 98,849,422 (-)ENTREZGENE
CHM1_110105,497,261 - 105,502,768 (-)NCBI
T2T-CHM13v2.010104,340,546 - 104,346,206 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001001412 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH36193 (Get FASTA)   NCBI Sequence Viewer  
  AAH36208 (Get FASTA)   NCBI Sequence Viewer  
  EAW49632 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000329926
  ENSP00000329926.6
GenBank Protein Q8IU99 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001001412   ⟸   NM_001001412
- UniProtKB: Q5W091 (UniProtKB/Swiss-Prot),   Q8IU99 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000329926   ⟸   ENST00000329905

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IU99-F1-model_v2 AlphaFold Q8IU99 1-346 view protein structure

Promoters
RGD ID:7218579
Promoter ID:EPDNEW_H15035
Type:initiation region
Name:CALHM1_1
Description:calcium homeostasis modulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15036  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810103,458,900 - 103,458,960EPDNEW
RGD ID:7218581
Promoter ID:EPDNEW_H15036
Type:initiation region
Name:CALHM1_2
Description:calcium homeostasis modulator 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15035  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810103,459,053 - 103,459,113EPDNEW
RGD ID:6787430
Promoter ID:HG_KWN:11044
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001001412
Position:
Human AssemblyChrPosition (strand)Source
Build 3610105,208,376 - 105,208,876 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23494 AgrOrtholog
COSMIC CALHM1 COSMIC
Ensembl Genes ENSG00000185933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329905 ENTREZGENE
  ENST00000329905.6 UniProtKB/Swiss-Prot
GTEx ENSG00000185933 GTEx
HGNC ID HGNC:23494 ENTREZGENE
Human Proteome Map CALHM1 Human Proteome Map
InterPro CALHM UniProtKB/Swiss-Prot
KEGG Report hsa:255022 UniProtKB/Swiss-Prot
NCBI Gene 255022 ENTREZGENE
OMIM 612234 OMIM
PANTHER PTHR32261 UniProtKB/Swiss-Prot
  PTHR32261:SF2 UniProtKB/Swiss-Prot
Pfam Ca_hom_mod UniProtKB/Swiss-Prot
PharmGKB PA162380954 PharmGKB
UniProt CAHM1_HUMAN UniProtKB/Swiss-Prot
  Q5W091 ENTREZGENE
  Q8IU99 ENTREZGENE
UniProt Secondary Q5W091 UniProtKB/Swiss-Prot