CALN1 (calneuron 1) - Rat Genome Database

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Gene: CALN1 (calneuron 1) Homo sapiens
Analyze
Symbol: CALN1
Name: calneuron 1
RGD ID: 1314120
HGNC Page HGNC:13248
Description: Predicted to enable calcium ion binding activity. Located in trans-Golgi network membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CABP8; calcium-binding protein 8; calcium-binding protein CABP8; calneuron I; calneuron-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh38771,779,491 - 72,504,279 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl771,779,491 - 72,447,151 (-)EnsemblGRCh38hg38GRCh38
GRCh37771,244,476 - 71,912,128 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36770,882,412 - 71,515,296 (-)NCBINCBI36Build 36hg18NCBI36
Build 34770,692,565 - 71,356,697NCBI
Celera764,619,023 - 65,251,883 (-)NCBICelera
Cytogenetic Map7q11.22NCBI
HuRef767,413,680 - 68,045,799 (-)NCBIHuRef
CHM1_1771,338,794 - 71,972,776 (-)NCBICHM1_1
T2T-CHM13v2.0772,996,291 - 73,722,754 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2770,577,428 - 71,210,210 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9847074   PMID:11286509   PMID:12477932   PMID:12690205   PMID:12853948   PMID:14702039   PMID:15489334   PMID:16344560   PMID:19338761   PMID:20379614  
PMID:21685187   PMID:21873635   PMID:21926974   PMID:22837378   PMID:24529757   PMID:26116628   PMID:26163462   PMID:26206863   PMID:26991396   PMID:28514442   PMID:29109191   PMID:29626470  
PMID:30073165   PMID:32296183   PMID:33961781   PMID:35256949   PMID:36688959  


Genomics

Comparative Map Data
CALN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38771,779,491 - 72,504,279 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl771,779,491 - 72,447,151 (-)EnsemblGRCh38hg38GRCh38
GRCh37771,244,476 - 71,912,128 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36770,882,412 - 71,515,296 (-)NCBINCBI36Build 36hg18NCBI36
Build 34770,692,565 - 71,356,697NCBI
Celera764,619,023 - 65,251,883 (-)NCBICelera
Cytogenetic Map7q11.22NCBI
HuRef767,413,680 - 68,045,799 (-)NCBIHuRef
CHM1_1771,338,794 - 71,972,776 (-)NCBICHM1_1
T2T-CHM13v2.0772,996,291 - 73,722,754 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2770,577,428 - 71,210,210 (-)NCBI
Caln1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395130,398,245 - 130,876,253 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5130,398,296 - 130,876,253 (+)EnsemblGRCm39 Ensembl
GRCm385130,369,404 - 130,846,325 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5130,369,455 - 130,847,412 (+)EnsemblGRCm38mm10GRCm38
MGSCv375130,845,328 - 131,316,515 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365130,733,504 - 131,124,904 (+)NCBIMGSCv36mm8
Celera5127,382,573 - 127,853,118 (+)NCBICelera
Cytogenetic Map5G1.3- G2NCBI
cM Map569.29NCBI
Caln1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,447,964 - 31,939,847 (-)NCBIGRCr8
mRatBN7.21225,811,743 - 26,303,670 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1225,819,628 - 26,303,344 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1226,965,639 - 27,399,677 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01227,576,121 - 28,010,201 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01226,636,702 - 27,071,428 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01229,307,117 - 29,796,996 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1229,308,341 - 29,743,705 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01231,251,402 - 31,733,594 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41226,860,409 - 27,287,503 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11226,723,371 - 27,193,845 (-)NCBI
Celera1227,542,062 - 27,969,078 (-)NCBICelera
Cytogenetic Map12q12NCBI
Caln1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554569,079,917 - 9,543,754 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554569,079,917 - 9,547,459 (+)NCBIChiLan1.0ChiLan1.0
CALN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2692,121,039 - 92,783,896 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17140,385,673 - 141,048,531 (+)NCBINHGRI_mPanPan1
PanPan1.1779,659,066 - 80,324,368 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl779,667,347 - 80,280,077 (-)Ensemblpanpan1.1panPan2
CALN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.161,545,151 - 2,067,927 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl61,556,003 - 2,067,352 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha63,244,577 - 3,773,112 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.061,356,619 - 1,878,362 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl61,367,490 - 1,878,353 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.161,285,832 - 1,814,587 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.061,293,382 - 1,820,418 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.061,465,357 - 1,994,422 (+)NCBIUU_Cfam_GSD_1.0
Caln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344126,873,811 - 127,223,088 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365436,820,362 - 7,135,207 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365436,813,479 - 7,054,644 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CALN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1282,846,868 - 3,578,564 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607013,019,544 - 13,761,534 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Caln1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247409,088,443 - 9,581,642 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247409,049,512 - 9,589,028 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CALN1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1 copy number loss See cases [RCV000050606] Chr7:64657050..72243063 [GRCh38]
Chr7:64117428..71708048 [GRCh37]
Chr7:63754863..71345984 [NCBI36]
Chr7:7q11.21-11.22		 pathogenic
GRCh38/hg38 7q11.22(chr7:72139800-72505698)x1 copy number loss See cases [RCV000051065] Chr7:72139800..72505698 [GRCh38]
Chr7:71604785..71935721 [GRCh37]
Chr7:71242721..71608619 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 copy number loss See cases [RCV000052321] Chr7:68668307..73710276 [GRCh38]
Chr7:68133294..72806397 [GRCh37]
Chr7:67771230..72762542 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22(chr7:71835105-72444532)x1 copy number loss See cases [RCV000052657] Chr7:71835105..72444532 [GRCh38]
Chr7:71300090..71909517 [GRCh37]
Chr7:70938026..71547453 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:72022091-72300628)x1 copy number loss See cases [RCV000052658] Chr7:72022091..72300628 [GRCh38]
Chr7:71487076..71765613 [GRCh37]
Chr7:71125012..71403549 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:70509663-71957634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053443]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053443]|See cases [RCV000053443] Chr7:70509663..71957634 [GRCh38]
Chr7:69974649..71422619 [GRCh37]
Chr7:69612585..71060555 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
NM_001017440.2(CALN1):c.240C>T (p.Ile80=) single nucleotide variant Malignant melanoma [RCV000067925] Chr7:72106173 [GRCh38]
Chr7:71571158 [GRCh37]
Chr7:71209094 [NCBI36]
Chr7:7q11.22		 not provided
NM_001017440.2(CALN1):c.503C>T (p.Ser168Leu) single nucleotide variant Malignant melanoma [RCV000061670] Chr7:71810365 [GRCh38]
Chr7:71275350 [GRCh37]
Chr7:70913286 [NCBI36]
Chr7:7q11.22		 not provided
NM_001017440.2(CALN1):c.376-29170C>A single nucleotide variant Lung cancer [RCV000106447] Chr7:71839662 [GRCh38]
Chr7:71304647 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.376-51179G>A single nucleotide variant Lung cancer [RCV000106448] Chr7:71861671 [GRCh38]
Chr7:71326656 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.376-98967A>T single nucleotide variant Lung cancer [RCV000106449] Chr7:71909459 [GRCh38]
Chr7:71374444 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.375+92440C>G single nucleotide variant Lung cancer [RCV000106450] Chr7:71931217 [GRCh38]
Chr7:71396202 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.375+10191G>T single nucleotide variant Lung cancer [RCV000106451] Chr7:72013466 [GRCh38]
Chr7:71478451 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.263-15685T>G single nucleotide variant Lung cancer [RCV000106452] Chr7:72039454 [GRCh38]
Chr7:71504439 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.119-7526C>A single nucleotide variant Lung cancer [RCV000106453] Chr7:72113820 [GRCh38]
Chr7:71578805 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.119-65567G>T single nucleotide variant Lung cancer [RCV000106454] Chr7:72171861 [GRCh38]
Chr7:71636846 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_001017440.2(CALN1):c.-7-12746A>T single nucleotide variant Lung cancer [RCV000106455] Chr7:72291556 [GRCh38]
Chr7:71756541 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.3(CALN1):c.119+34855G>C single nucleotide variant Lung cancer [RCV000106456] Chr7:72368396 [GRCh38]
Chr7:71833381 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.3(CALN1):c.-74+2961C>A single nucleotide variant Lung cancer [RCV000106457] Chr7:72409097 [GRCh38]
Chr7:71874082 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:71957575-72338645)x1 copy number loss See cases [RCV000133624] Chr7:71957575..72338645 [GRCh38]
Chr7:71422560..71803630 [GRCh37]
Chr7:71060496..71441566 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:71590242-71808650)x3 copy number gain See cases [RCV000134322] Chr7:71590242..71808650 [GRCh38]
Chr7:71055227..71273635 [GRCh37]
Chr7:70693163..70911571 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22(chr7:72219956-72243004)x1 copy number loss See cases [RCV000135273] Chr7:72219956..72243004 [GRCh38]
Chr7:71684941..71707989 [GRCh37]
Chr7:71322877..71345925 [NCBI36]
Chr7:7q11.22		 likely benign
GRCh38/hg38 7q11.22(chr7:70792749-72444391)x1 copy number loss See cases [RCV000134945] Chr7:70792749..72444391 [GRCh38]
Chr7:70257735..71909376 [GRCh37]
Chr7:69895671..71547312 [NCBI36]
Chr7:7q11.22		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 copy number loss See cases [RCV000135816] Chr7:71461127..73614730 [GRCh38]
Chr7:70926112..72806397 [GRCh37]
Chr7:70564048..72666996 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 7q11.22(chr7:72338586-72694928)x1 copy number loss See cases [RCV000135564] Chr7:72338586..72694928 [GRCh38]
Chr7:71441507..71797854 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:72023557-72485542)x1 copy number loss See cases [RCV000137565] Chr7:72023557..72485542 [GRCh38]
Chr7:71488542..71935721 [GRCh37]
Chr7:71126478..71588463 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:72303992-72724792)x1 copy number loss See cases [RCV000139420] Chr7:72303992..72724792 [GRCh38]
Chr7:71406913..71827694 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh38/hg38 7q11.22(chr7:71735021-72243063)x3 copy number gain See cases [RCV000138904] Chr7:71735021..72243063 [GRCh38]
Chr7:71200006..71708048 [GRCh37]
Chr7:70837942..71345984 [NCBI36]
Chr7:7q11.22		 likely benign
GRCh38/hg38 7q11.22-11.23(chr7:71148562-72895414)x1 copy number loss See cases [RCV000138955] Chr7:71148562..72895414 [GRCh38]
Chr7:70613548..72365951 [GRCh37]
Chr7:70251484..72003887 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh38/hg38 7q11.22(chr7:72183970-72630810)x1 copy number loss See cases [RCV000142446] Chr7:72183970..72630810 [GRCh38]
Chr7:71648955..71935721 [GRCh37]
Chr7:71286891..71733731 [NCBI36]
Chr7:7q11.22		 likely benign
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 copy number loss See cases [RCV000143344] Chr7:71478043..73444574 [GRCh38]
Chr7:70943028..72806397 [GRCh37]
Chr7:70580964..72496840 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh38/hg38 7q11.22(chr7:72179436-72556486)x1 copy number loss See cases [RCV000143534] Chr7:72179436..72556486 [GRCh38]
Chr7:71644421..72021471 [GRCh37]
Chr7:71282357..71659407 [NCBI36]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
NC_000007.13:g.70236723_72383418del deletion Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [RCV000162213] Chr7:70236723..72383418 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
NC_000007.14:g.72415759C>G single nucleotide variant Lung cancer [RCV000106458] Chr7:72415759 [GRCh38]
Chr7:71880744 [GRCh37]
Chr7:7q11.22		 uncertain significance
NC_000007.14:g.72446044C>G single nucleotide variant Lung cancer [RCV000106459] Chr7:72446044 [GRCh38]
Chr7:71911029 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh38/hg38 7q11.22(chr7:72444332-72630810)x3 copy number gain See cases [RCV000136509] Chr7:72444332..72630810 [GRCh38]
Chr7:71547253..71733731 [NCBI36]
Chr7:7q11.22		 benign
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71008585-71723377)x3 copy number gain See cases [RCV000510681] Chr7:71008585..71723377 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71267226-72032168)x3 copy number gain See cases [RCV000511104] Chr7:71267226..72032168 [GRCh37]
Chr7:7q11.22		 likely benign
NM_031468.4(CALN1):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV003287444] Chr7:72278781 [GRCh38]
Chr7:71743766 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71014126-71283581)x4 copy number gain not provided [RCV000682814] Chr7:71014126..71283581 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:67638834-71764461)x1 copy number loss not provided [RCV000682905] Chr7:67638834..71764461 [GRCh37]
Chr7:7q11.22		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71026463-71280299)x3 copy number gain not provided [RCV000746775] Chr7:71026463..71280299 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22(chr7:71211570-71831485)x1 copy number loss not provided [RCV000746776] Chr7:71211570..71831485 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22(chr7:71245140-71266533)x3 copy number gain not provided [RCV000746777] Chr7:71245140..71266533 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22(chr7:71245140-71273602)x3 copy number gain not provided [RCV000746778] Chr7:71245140..71273602 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22-11.23(chr7:71513381-72305671)x1 copy number loss not provided [RCV000746779] Chr7:71513381..72305671 [GRCh37]
Chr7:7q11.22-11.23		 benign
GRCh37/hg19 7q11.22(chr7:71578911-71579636)x1 copy number loss not provided [RCV000746780] Chr7:71578911..71579636 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3 copy number gain not provided [RCV000848342] Chr7:71028996..71283449 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71135762-71461934)x3 copy number gain not provided [RCV001005966] Chr7:71135762..71461934 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71028996-71283449)x3 copy number gain not provided [RCV000848340] Chr7:71028996..71283449 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.333G>A (p.Gly111=) single nucleotide variant not provided [RCV000886643] Chr7:72106206 [GRCh38]
Chr7:71571191 [GRCh37]
Chr7:7q11.22		 benign
NM_031468.4(CALN1):c.658+8C>A single nucleotide variant not provided [RCV000954676] Chr7:71810328 [GRCh38]
Chr7:71275313 [GRCh37]
Chr7:7q11.22		 benign
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1 copy number loss not provided [RCV001260005] Chr7:68977230..73939510 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
GRCh37/hg19 7q11.22(chr7:71329330-71768381)x1 copy number loss not provided [RCV001260002] Chr7:71329330..71768381 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.22(chr7:71683506-71784240)x1 copy number loss not provided [RCV001260003] Chr7:71683506..71784240 [GRCh37]
Chr7:7q11.22		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310) copy number loss Williams syndrome [RCV001352633] Chr7:71847968..73391310 [GRCh37]
Chr7:7q11.22-11.23		 likely pathogenic
GRCh37/hg19 7q11.22(chr7:69250058-71604236) copy number loss not specified [RCV002053693] Chr7:69250058..71604236 [GRCh37]
Chr7:7q11.22		 pathogenic
Single allele deletion not provided [RCV002266887] Chr7:71864789..72303764 [GRCh38]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_031468.4(CALN1):c.694C>T (p.Arg232Trp) single nucleotide variant Inborn genetic diseases [RCV002804897] Chr7:71787867 [GRCh38]
Chr7:71252852 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.86C>T (p.Pro29Leu) single nucleotide variant Inborn genetic diseases [RCV002792454] Chr7:72403284 [GRCh38]
Chr7:71868269 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.548A>C (p.Tyr183Ser) single nucleotide variant Inborn genetic diseases [RCV002959430] Chr7:71810446 [GRCh38]
Chr7:71275431 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.602A>G (p.Asn201Ser) single nucleotide variant Inborn genetic diseases [RCV002677813] Chr7:71810392 [GRCh38]
Chr7:71275377 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.205A>G (p.Ser69Gly) single nucleotide variant Inborn genetic diseases [RCV003256795] Chr7:72278725 [GRCh38]
Chr7:71743710 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.151G>A (p.Gly51Ser) single nucleotide variant Inborn genetic diseases [RCV003177864] Chr7:72278779 [GRCh38]
Chr7:71743764 [GRCh37]
Chr7:7q11.22		 uncertain significance
NM_031468.4(CALN1):c.381C>G (p.Asp127Glu) single nucleotide variant not provided [RCV003433857] Chr7:72106158 [GRCh38]
Chr7:71571143 [GRCh37]
Chr7:7q11.22		 uncertain significance
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11936
Count of miRNA genes:1359
Interacting mature miRNAs:1755
Transcripts:ENST00000329008, ENST00000395275, ENST00000395276, ENST00000405452, ENST00000412588, ENST00000431984, ENST00000446128
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D7S2415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,733,820 - 71,733,966UniSTSGRCh37
GRCh371320,741,476 - 20,741,546UniSTSGRCh37
GRCh37771,733,761 - 71,733,889UniSTSGRCh37
Build 36771,371,697 - 71,371,825RGDNCBI36
Celera765,108,390 - 65,108,536UniSTS
Celera765,108,327 - 65,108,459RGD
Celera131,803,279 - 1,803,349UniSTS
HuRef767,901,642 - 67,901,788UniSTS
HuRef767,901,569 - 67,901,711UniSTS
HuRef131,546,921 - 1,546,991UniSTS
CRA_TCAGchr7v2771,066,807 - 71,066,953UniSTS
CRA_TCAGchr7v2771,066,744 - 71,066,876UniSTS
Marshfield Genetic Map783.99RGD
Marshfield Genetic Map783.99UniSTS
Genethon Genetic Map784.4UniSTS
TNG Radiation Hybrid Map731893.0UniSTS
Stanford-G3 RH Map73399.0UniSTS
GeneMap99-GB4 RH Map7420.52UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73399.0UniSTS
D7S672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,862,617 - 71,862,754UniSTSGRCh37
GRCh37771,862,627 - 71,863,780UniSTSGRCh37
GRCh37771,862,617 - 71,863,767UniSTSGRCh37
GRCh37771,862,617 - 71,862,660UniSTSGRCh37
GRCh37771,862,627 - 71,862,767UniSTSGRCh37
Build 36771,500,553 - 71,500,690RGDNCBI36
Celera765,237,203 - 65,237,246UniSTS
Celera765,237,203 - 65,237,340RGD
Celera765,237,213 - 65,237,353UniSTS
Celera765,237,213 - 65,238,366UniSTS
Celera765,237,203 - 65,238,353UniSTS
Cytogenetic Map7q11UniSTS
HuRef768,030,922 - 68,032,090UniSTS
HuRef768,030,912 - 68,032,077UniSTS
HuRef768,030,912 - 68,030,955UniSTS
HuRef768,030,922 - 68,031,076UniSTS
HuRef768,030,912 - 68,031,063UniSTS
CRA_TCAGchr7v2771,195,466 - 71,196,626UniSTS
CRA_TCAGchr7v2771,195,456 - 71,195,499UniSTS
CRA_TCAGchr7v2771,195,456 - 71,196,613UniSTS
CRA_TCAGchr7v2771,195,456 - 71,195,599UniSTS
CRA_TCAGchr7v2771,195,466 - 71,195,612UniSTS
Marshfield Genetic Map784.52RGD
Genethon Genetic Map784.9UniSTS
TNG Radiation Hybrid Map731829.0UniSTS
deCODE Assembly Map784.6UniSTS
Stanford-G3 RH Map73409.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73409.0UniSTS
D7S1483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,436,886 - 71,437,299UniSTSGRCh37
GRCh37771,437,247 - 71,437,317UniSTSGRCh37
Celera764,811,437 - 64,811,848UniSTS
Celera764,811,796 - 64,811,866UniSTS
Cytogenetic Map7q11UniSTS
HuRef767,605,875 - 67,606,288UniSTS
HuRef767,606,236 - 67,606,306UniSTS
CRA_TCAGchr7v2770,769,853 - 70,770,261UniSTS
CRA_TCAGchr7v2770,770,209 - 70,770,279UniSTS
Marshfield Genetic Map785.32RGD
deCODE Assembly Map784.6UniSTS
D7S1499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,810,234 - 71,810,614UniSTSGRCh37
Celera765,184,812 - 65,185,196UniSTS
Cytogenetic Map7q11UniSTS
HuRef767,978,127 - 67,978,507UniSTS
CRA_TCAGchr7v2771,143,081 - 71,143,461UniSTS
Marshfield Genetic Map785.32RGD
Marshfield Genetic Map785.32UniSTS
D7S653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,842,546 - 71,842,658UniSTSGRCh37
GRCh37771,842,366 - 71,842,565UniSTSGRCh37
GRCh37771,842,345 - 71,842,550UniSTSGRCh37
Build 36771,480,281 - 71,480,486RGDNCBI36
Celera765,217,136 - 65,217,248UniSTS
Celera765,216,931 - 65,217,140RGD
Celera765,216,952 - 65,217,155UniSTS
Cytogenetic Map7q11UniSTS
HuRef768,010,519 - 68,010,631UniSTS
HuRef768,010,339 - 68,010,538UniSTS
HuRef768,010,318 - 68,010,523UniSTS
CRA_TCAGchr7v2771,175,386 - 71,175,498UniSTS
CRA_TCAGchr7v2771,175,206 - 71,175,405UniSTS
CRA_TCAGchr7v2771,175,185 - 71,175,390UniSTS
Marshfield Genetic Map784.52RGD
Genethon Genetic Map784.9UniSTS
TNG Radiation Hybrid Map731839.0UniSTS
deCODE Assembly Map784.6UniSTS
Whitehead-RH Map7387.4UniSTS
Whitehead-YAC Contig Map7 UniSTS
G20236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,301,449 - 71,301,610UniSTSGRCh37
Build 36770,939,385 - 70,939,546RGDNCBI36
Celera764,675,976 - 64,676,137RGD
Cytogenetic Map7q11UniSTS
HuRef767,470,590 - 67,470,751UniSTS
CRA_TCAGchr7v2770,634,383 - 70,634,544UniSTS
A005B02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,301,449 - 71,301,610UniSTSGRCh37
Build 36770,939,385 - 70,939,546RGDNCBI36
Celera764,675,976 - 64,676,137RGD
Cytogenetic Map7q11UniSTS
HuRef767,470,590 - 67,470,751UniSTS
CRA_TCAGchr7v2770,634,383 - 70,634,544UniSTS
GeneMap99-GB4 RH Map7418.09UniSTS
NCBI RH Map7879.0UniSTS
WI-21143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,301,427 - 71,301,590UniSTSGRCh37
Build 36770,939,363 - 70,939,526RGDNCBI36
Celera764,675,954 - 64,676,117RGD
Cytogenetic Map7q11UniSTS
HuRef767,470,568 - 67,470,731UniSTS
CRA_TCAGchr7v2770,634,361 - 70,634,524UniSTS
GeneMap99-GB4 RH Map7416.77UniSTS
Whitehead-RH Map7383.4UniSTS
D7S2933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,376,231 - 71,376,380UniSTSGRCh37
Build 36771,014,167 - 71,014,316RGDNCBI36
Celera764,750,801 - 64,750,950RGD
Cytogenetic Map7q11UniSTS
HuRef767,545,306 - 67,545,455UniSTS
CRA_TCAGchr7v2770,709,209 - 70,709,358UniSTS
D7S1497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,810,256 - 71,810,607UniSTSGRCh37
Build 36771,448,192 - 71,448,543RGDNCBI36
Celera765,184,834 - 65,185,189RGD
Cytogenetic Map7q11UniSTS
HuRef767,978,149 - 67,978,500UniSTS
CRA_TCAGchr7v2771,143,103 - 71,143,454UniSTS
RH11992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,669,330 - 71,669,432UniSTSGRCh37
Build 36771,307,266 - 71,307,368RGDNCBI36
Celera765,043,901 - 65,044,003RGD
Cytogenetic Map7q11UniSTS
HuRef767,837,659 - 67,837,761UniSTS
CRA_TCAGchr7v2771,002,291 - 71,002,393UniSTS
GeneMap99-GB4 RH Map7417.25UniSTS
NCBI RH Map7896.8UniSTS
G20644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,248,048 - 71,248,195UniSTSGRCh37
Build 36770,885,984 - 70,886,131RGDNCBI36
Celera764,622,595 - 64,622,742RGD
Cytogenetic Map7q11UniSTS
HuRef767,417,252 - 67,417,399UniSTS
CRA_TCAGchr7v2770,581,000 - 70,581,147UniSTS
A006A08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,248,048 - 71,248,195UniSTSGRCh37
Build 36770,885,984 - 70,886,131RGDNCBI36
Celera764,622,595 - 64,622,742RGD
Cytogenetic Map7q11UniSTS
HuRef767,417,252 - 67,417,399UniSTS
CRA_TCAGchr7v2770,581,000 - 70,581,147UniSTS
GeneMap99-GB4 RH Map7417.57UniSTS
NCBI RH Map7877.5UniSTS
SHGC-79816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,559,834 - 71,560,134UniSTSGRCh37
Build 36771,197,770 - 71,198,070RGDNCBI36
Celera764,934,396 - 64,934,696RGD
Cytogenetic Map7q11UniSTS
HuRef767,728,471 - 67,728,771UniSTS
CRA_TCAGchr7v2770,892,780 - 70,893,080UniSTS
TNG Radiation Hybrid Map731955.0UniSTS
RH119173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,443,646 - 71,443,967UniSTSGRCh37
Build 36771,081,582 - 71,081,903RGDNCBI36
Celera764,818,195 - 64,818,516RGD
Cytogenetic Map7q11UniSTS
HuRef767,612,204 - 67,612,525UniSTS
CRA_TCAGchr7v2770,776,608 - 70,776,929UniSTS
TNG Radiation Hybrid Map731993.0UniSTS
D7S2169E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,246,860 - 71,246,993UniSTSGRCh37
Build 36770,884,796 - 70,884,929RGDNCBI36
Celera764,621,407 - 64,621,540RGD
Cytogenetic Map7q11UniSTS
HuRef767,416,064 - 67,416,197UniSTS
CRA_TCAGchr7v2770,579,812 - 70,579,945UniSTS
D7S2393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,244,557 - 71,244,613UniSTSGRCh37
Build 36770,882,493 - 70,882,549RGDNCBI36
Celera764,619,104 - 64,619,160RGD
Cytogenetic Map7q11UniSTS
HuRef767,413,761 - 67,413,817UniSTS
CRA_TCAGchr7v2770,577,509 - 70,577,565UniSTS
WI-19877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,408,915 - 71,409,115UniSTSGRCh37
Build 36771,046,851 - 71,047,051RGDNCBI36
Celera764,783,472 - 64,783,672RGD
Cytogenetic Map7q11UniSTS
CRA_TCAGchr7v2770,741,885 - 70,742,085UniSTS
GeneMap99-GB4 RH Map7414.76UniSTS
Whitehead-RH Map7368.9UniSTS
NCBI RH Map7871.0UniSTS
G17123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,861,641 - 71,861,768UniSTSGRCh37
Build 36771,499,577 - 71,499,704RGDNCBI36
Celera765,236,227 - 65,236,354RGD
Cytogenetic Map7q11UniSTS
HuRef768,029,936 - 68,030,063UniSTS
CRA_TCAGchr7v2771,194,478 - 71,194,607UniSTS
D7S2161E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,300,398 - 71,300,529UniSTSGRCh37
Build 36770,938,334 - 70,938,465RGDNCBI36
Celera764,674,925 - 64,675,056RGD
Cytogenetic Map7q11UniSTS
HuRef767,469,539 - 67,469,670UniSTS
CRA_TCAGchr7v2770,633,332 - 70,633,463UniSTS
Stanford-G3 RH Map73127.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73127.0UniSTS
GDB:3755065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,806,076 - 71,806,183UniSTSGRCh37
Build 36771,444,012 - 71,444,119RGDNCBI36
Celera765,180,654 - 65,180,761RGD
Cytogenetic Map7q11UniSTS
HuRef767,973,968 - 67,974,075UniSTS
CRA_TCAGchr7v2771,138,923 - 71,139,030UniSTS
D7S1843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,266,348 - 71,266,524UniSTSGRCh37
Build 36770,904,284 - 70,904,460RGDNCBI36
Celera764,640,872 - 64,641,052RGD
Cytogenetic Map7q11UniSTS
HuRef767,435,521 - 67,435,705UniSTS
CRA_TCAGchr7v2770,599,279 - 70,599,459UniSTS
Marshfield Genetic Map783.99UniSTS
deCODE Assembly Map784.45UniSTS
D7S1511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,266,498 - 71,266,586UniSTSGRCh37
GRCh37771,266,328 - 71,266,604UniSTSGRCh37
Build 36770,904,434 - 70,904,522RGDNCBI36
Celera764,641,026 - 64,641,114RGD
Celera764,640,852 - 64,641,132UniSTS
Cytogenetic Map7q11UniSTS
HuRef767,435,501 - 67,435,785UniSTS
HuRef5138,747,190 - 138,748,043UniSTS
HuRef767,435,679 - 67,435,767UniSTS
CRA_TCAGchr7v2770,599,259 - 70,599,539UniSTS
CRA_TCAGchr7v2770,599,433 - 70,599,521UniSTS
SHGC-4640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,658,495 - 71,658,628UniSTSGRCh37
Build 36771,296,431 - 71,296,564RGDNCBI36
Celera765,033,066 - 65,033,199RGD
Cytogenetic Map7q11UniSTS
HuRef767,826,829 - 67,826,962UniSTS
CRA_TCAGchr7v2770,991,456 - 70,991,589UniSTS
Stanford-G3 RH Map73437.0UniSTS
NCBI RH Map7869.9UniSTS
D7S1607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,741,052 - 71,741,132UniSTSGRCh37
Build 36771,378,988 - 71,379,068RGDNCBI36
Celera765,115,628 - 65,115,708RGD
Cytogenetic Map7q11UniSTS
HuRef767,908,908 - 67,908,988UniSTS
CRA_TCAGchr7v2771,074,056 - 71,074,136UniSTS
WI-21173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,248,028 - 71,248,238UniSTSGRCh37
Build 36770,885,964 - 70,886,174RGDNCBI36
Celera764,622,575 - 64,622,785RGD
Cytogenetic Map7q11UniSTS
HuRef767,417,232 - 67,417,442UniSTS
CRA_TCAGchr7v2770,580,980 - 70,581,190UniSTS
GeneMap99-GB4 RH Map7414.24UniSTS
Whitehead-RH Map7370.1UniSTS
D7S2633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,244,567 - 71,244,737UniSTSGRCh37
Build 36770,882,503 - 70,882,673RGDNCBI36
Celera764,619,114 - 64,619,284RGD
Cytogenetic Map7q11UniSTS
HuRef767,413,771 - 67,413,941UniSTS
CRA_TCAGchr7v2770,577,519 - 70,577,689UniSTS
Whitehead-YAC Contig Map7 UniSTS
A007B21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,246,023 - 71,246,238UniSTSGRCh37
Build 36770,883,959 - 70,884,174RGDNCBI36
Celera764,620,570 - 64,620,785RGD
Cytogenetic Map7q11UniSTS
HuRef767,415,227 - 67,415,442UniSTS
CRA_TCAGchr7v2770,578,975 - 70,579,190UniSTS
GeneMap99-GB4 RH Map7415.46UniSTS
GDB:1317622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,248,233 - 71,248,292UniSTSGRCh37
Build 36770,886,169 - 70,886,228RGDNCBI36
Celera764,622,780 - 64,622,839RGD
Cytogenetic Map7q11UniSTS
HuRef767,417,437 - 67,417,496UniSTS
CRA_TCAGchr7v2770,581,185 - 70,581,244UniSTS
D7S2025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,247,173 - 71,247,320UniSTSGRCh37
Build 36770,885,109 - 70,885,256RGDNCBI36
Celera764,621,720 - 64,621,867RGD
Cytogenetic Map7q11UniSTS
HuRef767,416,377 - 67,416,524UniSTS
CRA_TCAGchr7v2770,580,125 - 70,580,272UniSTS
GDB:1317540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,596,267 - 71,596,391UniSTSGRCh37
Build 36771,234,203 - 71,234,327RGDNCBI36
Celera764,970,831 - 64,970,955RGD
Cytogenetic Map7q11UniSTS
HuRef767,764,818 - 67,764,942UniSTS
CRA_TCAGchr7v2770,929,220 - 70,929,344UniSTS
SHGC-32199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,301,515 - 71,301,642UniSTSGRCh37
Build 36770,939,451 - 70,939,578RGDNCBI36
Celera764,676,042 - 64,676,169RGD
Cytogenetic Map7q11UniSTS
HuRef767,470,656 - 67,470,783UniSTS
CRA_TCAGchr7v2770,634,449 - 70,634,576UniSTS
Stanford-G3 RH Map73110.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73110.0UniSTS
GDB:1318633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,419,146 - 71,419,273UniSTSGRCh37
Build 36771,057,082 - 71,057,209RGDNCBI36
Celera764,793,704 - 64,793,831RGD
Cytogenetic Map7q11UniSTS
HuRef767,588,133 - 67,588,260UniSTS
CRA_TCAGchr7v2770,752,116 - 70,752,243UniSTS
GDB:1234276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,861,423 - 71,861,553UniSTSGRCh37
Build 36771,499,359 - 71,499,489RGDNCBI36
Celera765,236,009 - 65,236,139RGD
Cytogenetic Map7q11UniSTS
HuRef768,029,718 - 68,029,848UniSTS
CRA_TCAGchr7v2771,194,260 - 71,194,390UniSTS
D7S1816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,266,331 - 71,266,553UniSTSGRCh37
GRCh37771,266,500 - 71,266,590UniSTSGRCh37
Build 36770,904,267 - 70,904,489RGDNCBI36
Celera764,641,028 - 64,641,118UniSTS
Celera764,640,855 - 64,641,081RGD
Cytogenetic Map7q11UniSTS
HuRef767,435,681 - 67,435,771UniSTS
HuRef767,435,504 - 67,435,734UniSTS
CRA_TCAGchr7v2770,599,435 - 70,599,525UniSTS
CRA_TCAGchr7v2770,599,262 - 70,599,488UniSTS
Whitehead-RH Map7368.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7871.5UniSTS
A006O39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,300,368 - 71,300,557UniSTSGRCh37
Build 36770,938,304 - 70,938,493RGDNCBI36
Celera764,674,895 - 64,675,084RGD
Cytogenetic Map7q11UniSTS
HuRef767,469,509 - 67,469,698UniSTS
CRA_TCAGchr7v2770,633,302 - 70,633,491UniSTS
GeneMap99-GB4 RH Map7414.76UniSTS
NCBI RH Map7869.9UniSTS
RH44479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,244,564 - 71,244,664UniSTSGRCh37
Build 36770,882,500 - 70,882,600RGDNCBI36
Celera764,619,111 - 64,619,211RGD
Cytogenetic Map7q11UniSTS
HuRef767,413,768 - 67,413,868UniSTS
CRA_TCAGchr7v2770,577,516 - 70,577,616UniSTS
GeneMap99-GB4 RH Map7417.57UniSTS
NCBI RH Map7877.5UniSTS
GDB:3754362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,372,257 - 71,372,397UniSTSGRCh37
Build 36771,010,193 - 71,010,333RGDNCBI36
Celera764,746,827 - 64,746,967RGD
Cytogenetic Map7q11UniSTS
HuRef767,541,332 - 67,541,472UniSTS
CRA_TCAGchr7v2770,705,235 - 70,705,375UniSTS
D7S1776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37771,372,159 - 71,372,290UniSTSGRCh37
Build 36771,010,095 - 71,010,226RGDNCBI36
Celera764,746,729 - 64,746,860RGD
Cytogenetic Map7q11UniSTS
HuRef767,541,234 - 67,541,365UniSTS
CRA_TCAGchr7v2770,705,137 - 70,705,268UniSTS
Whitehead-RH Map7378.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S1511  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map7q11UniSTS
D7S672  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
Marshfield Genetic Map784.52UniSTS
Genethon Genetic Map784.9UniSTS
deCODE Assembly Map784.6UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S653  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
TNG Radiation Hybrid Map731839.0UniSTS
D7S1483  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
Marshfield Genetic Map785.32UniSTS
deCODE Assembly Map784.6UniSTS
D7S1816  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
Whitehead-RH Map7368.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7871.5UniSTS
D7S653  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
Marshfield Genetic Map784.52UniSTS
Genethon Genetic Map784.9UniSTS
deCODE Assembly Map784.6UniSTS
Whitehead-RH Map7387.4UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S672  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS
TNG Radiation Hybrid Map731829.0UniSTS
Stanford-G3 RH Map73409.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73409.0UniSTS
D7S2415  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11UniSTS


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 2 1 63 1 18 1 4 2 1412 2 9 12
Low 10 14 323 6 39 6 1472 9 1442 22 616 37 2 21 677
Below cutoff 2036 2322 1151 479 1113 323 2548 1781 818 142 665 1254 156 1131 1875 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001017440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF282250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY726595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG718538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA101934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA150825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA233778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA805580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329008   ⟹   ENSP00000332498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,779,491 - 72,336,995 (-)Ensembl
RefSeq Acc Id: ENST00000395275   ⟹   ENSP00000378690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,779,491 - 72,412,338 (-)Ensembl
RefSeq Acc Id: ENST00000395276   ⟹   ENSP00000378691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,779,491 - 72,447,061 (-)Ensembl
RefSeq Acc Id: ENST00000405452   ⟹   ENSP00000384354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,779,492 - 71,810,495 (-)Ensembl
RefSeq Acc Id: ENST00000431984   ⟹   ENSP00000410704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl771,787,775 - 72,447,151 (-)Ensembl
RefSeq Acc Id: ENST00000446128   ⟹   ENSP00000411806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl772,023,657 - 72,337,751 (-)Ensembl
RefSeq Acc Id: NM_001017440   ⟹   NP_001017440
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,337,391 (-)NCBI
GRCh37771,244,476 - 71,912,136 (-)NCBI
Build 36770,882,412 - 71,440,144 (-)NCBI Archive
Celera764,619,023 - 65,251,883 (-)RGD
HuRef767,413,680 - 68,045,799 (-)ENTREZGENE
CHM1_1771,338,794 - 71,897,599 (-)NCBI
T2T-CHM13v2.0772,996,291 - 73,555,671 (-)NCBI
CRA_TCAGchr7v2770,577,428 - 71,210,210 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001363460   ⟹   NP_001350389
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,447,143 (-)NCBI
T2T-CHM13v2.0772,996,291 - 73,665,460 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031468   ⟹   NP_113656
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,412,338 (-)NCBI
GRCh37771,244,476 - 71,912,136 (-)NCBI
Build 36770,882,412 - 71,515,296 (-)NCBI Archive
Celera764,619,023 - 65,251,883 (-)RGD
HuRef767,413,680 - 68,045,799 (-)ENTREZGENE
CHM1_1771,338,794 - 71,972,776 (-)NCBI
T2T-CHM13v2.0772,996,291 - 73,630,662 (-)NCBI
CRA_TCAGchr7v2770,577,428 - 71,210,210 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011516594   ⟹   XP_011514896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,336,581 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516596   ⟹   XP_011514898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,338,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516597   ⟹   XP_011514899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,327,257 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012676   ⟹   XP_016868165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,447,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012677   ⟹   XP_016868166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,504,279 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012678   ⟹   XP_016868167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,447,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012679   ⟹   XP_016868168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,306,187 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012680   ⟹   XP_016868169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,336,166 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012682   ⟹   XP_016868171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,338,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012683   ⟹   XP_016868172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,447,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420910   ⟹   XP_047276866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,779,491 - 72,447,143 (-)NCBI
RefSeq Acc Id: XM_047420911   ⟹   XP_047276867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38771,963,569 - 72,412,338 (-)NCBI
RefSeq Acc Id: XM_054359145   ⟹   XP_054215120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,665,460 (-)NCBI
RefSeq Acc Id: XM_054359146   ⟹   XP_054215121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,554,861 (-)NCBI
RefSeq Acc Id: XM_054359147   ⟹   XP_054215122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,722,754 (-)NCBI
RefSeq Acc Id: XM_054359148   ⟹   XP_054215123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,665,460 (-)NCBI
RefSeq Acc Id: XM_054359149   ⟹   XP_054215124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,545,538 (-)NCBI
RefSeq Acc Id: XM_054359150   ⟹   XP_054215125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,545,538 (-)NCBI
RefSeq Acc Id: XM_054359151   ⟹   XP_054215126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,556,984 (-)NCBI
RefSeq Acc Id: XM_054359152   ⟹   XP_054215127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,554,446 (-)NCBI
RefSeq Acc Id: XM_054359153   ⟹   XP_054215128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,524,517 (-)NCBI
RefSeq Acc Id: XM_054359154   ⟹   XP_054215129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0772,996,291 - 73,665,460 (-)NCBI
RefSeq Acc Id: XM_054359155   ⟹   XP_054215130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0773,180,346 - 73,630,662 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001017440 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350389 (Get FASTA)   NCBI Sequence Viewer  
  NP_113656 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514896 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514898 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514899 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868165 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868166 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868167 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868168 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868169 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868171 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868172 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276866 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215130 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG09620 (Get FASTA)   NCBI Sequence Viewer  
  AAH20200 (Get FASTA)   NCBI Sequence Viewer  
  AAK15155 (Get FASTA)   NCBI Sequence Viewer  
  AAP21872 (Get FASTA)   NCBI Sequence Viewer  
  AAP21889 (Get FASTA)   NCBI Sequence Viewer  
  AAS02041 (Get FASTA)   NCBI Sequence Viewer  
  AAS07466 (Get FASTA)   NCBI Sequence Viewer  
  AAS07507 (Get FASTA)   NCBI Sequence Viewer  
  BAG35885 (Get FASTA)   NCBI Sequence Viewer  
  BAG53974 (Get FASTA)   NCBI Sequence Viewer  
  EAL23970 (Get FASTA)   NCBI Sequence Viewer  
  EAX07901 (Get FASTA)   NCBI Sequence Viewer  
  EAX07902 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332498
  ENSP00000332498.5
  ENSP00000378690
  ENSP00000378690.2
  ENSP00000378691
  ENSP00000378691.2
  ENSP00000410704
  ENSP00000410704.1
  ENSP00000411806
  ENSP00000411806.1
GenBank Protein Q9BXU9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_113656   ⟸   NM_031468
- Peptide Label: isoform 1
- UniProtKB: J3KQA7 (UniProtKB/Swiss-Prot),   Q9BXU9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001017440   ⟸   NM_001017440
- Peptide Label: isoform 2
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514896   ⟸   XM_011516594
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011514899   ⟸   XM_011516597
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514898   ⟸   XM_011516596
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868166   ⟸   XM_017012677
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016868165   ⟸   XM_017012676
- Peptide Label: isoform X6
- UniProtKB: J3KQA7 (UniProtKB/Swiss-Prot),   Q9BXU9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868172   ⟸   XM_017012683
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868167   ⟸   XM_017012678
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868171   ⟸   XM_017012682
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868169   ⟸   XM_017012680
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868168   ⟸   XM_017012679
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350389   ⟸   NM_001363460
- Peptide Label: isoform 2
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000384354   ⟸   ENST00000405452
RefSeq Acc Id: ENSP00000410704   ⟸   ENST00000431984
RefSeq Acc Id: ENSP00000411806   ⟸   ENST00000446128
RefSeq Acc Id: ENSP00000332498   ⟸   ENST00000329008
RefSeq Acc Id: ENSP00000378691   ⟸   ENST00000395276
RefSeq Acc Id: ENSP00000378690   ⟸   ENST00000395275
RefSeq Acc Id: XP_047276866   ⟸   XM_047420910
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047276867   ⟸   XM_047420911
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054215122   ⟸   XM_054359147
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215129   ⟸   XM_054359154
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215120   ⟸   XM_054359145
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215123   ⟸   XM_054359148
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215126   ⟸   XM_054359151
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215121   ⟸   XM_054359146
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215127   ⟸   XM_054359152
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215125   ⟸   XM_054359150
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215124   ⟸   XM_054359149
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215128   ⟸   XM_054359153
- Peptide Label: isoform X4
- UniProtKB: A4D1Z1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215130   ⟸   XM_054359155
- Peptide Label: isoform X5
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXU9-F1-model_v2 AlphaFold Q9BXU9 1-261 view protein structure

Promoters
RGD ID:6805354
Promoter ID:HG_KWN:57903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_031468
Position:
Human AssemblyChrPosition (strand)Source
Build 36771,515,066 - 71,515,566 (-)MPROMDB
RGD ID:7210737
Promoter ID:EPDNEW_H11114
Type:initiation region
Name:CALN1_1
Description:calneuron 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11116  EPDNEW_H11115  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38772,337,009 - 72,337,069EPDNEW
RGD ID:7210743
Promoter ID:EPDNEW_H11115
Type:initiation region
Name:CALN1_3
Description:calneuron 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11114  EPDNEW_H11116  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38772,412,338 - 72,412,398EPDNEW
RGD ID:7210739
Promoter ID:EPDNEW_H11116
Type:initiation region
Name:CALN1_2
Description:calneuron 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11114  EPDNEW_H11115  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38772,447,138 - 72,447,198EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13248 AgrOrtholog
COSMIC CALN1 COSMIC
Ensembl Genes ENSG00000183166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329008 ENTREZGENE
  ENST00000329008.9 UniProtKB/Swiss-Prot
  ENST00000395275 ENTREZGENE
  ENST00000395275.7 UniProtKB/Swiss-Prot
  ENST00000395276 ENTREZGENE
  ENST00000395276.6 UniProtKB/Swiss-Prot
  ENST00000431984 ENTREZGENE
  ENST00000431984.5 UniProtKB/Swiss-Prot
  ENST00000446128 ENTREZGENE
  ENST00000446128.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183166 GTEx
HGNC ID HGNC:13248 ENTREZGENE
Human Proteome Map CALN1 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100/CaBP-9k_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83698 UniProtKB/Swiss-Prot
NCBI Gene 83698 ENTREZGENE
OMIM 607176 OMIM
PANTHER CALCIUM-BINDING PROTEIN 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM-BINDING PROTEIN 8-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_6 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26045 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S100_CABP UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D1Z1 ENTREZGENE, UniProtKB/TrEMBL
  CABP8_HUMAN UniProtKB/Swiss-Prot
  E9PFU3_HUMAN UniProtKB/TrEMBL
  J3KQA7 ENTREZGENE
  L8ECK9_HUMAN UniProtKB/TrEMBL
  Q75MI2_HUMAN UniProtKB/TrEMBL
  Q75MP5_HUMAN UniProtKB/TrEMBL
  Q75MW5_HUMAN UniProtKB/TrEMBL
  Q86UL5_HUMAN UniProtKB/TrEMBL
  Q86UM7_HUMAN UniProtKB/TrEMBL
  Q9BXU9 ENTREZGENE
UniProt Secondary J3KQA7 UniProtKB/Swiss-Prot