MKLN1 (muskelin 1) - Rat Genome Database

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Gene: MKLN1 (muskelin 1) Homo sapiens
Analyze
Symbol: MKLN1
Name: muskelin 1
RGD ID: 734391
HGNC Page HGNC:7109
Description: Enables identical protein binding activity. Predicted to be involved in several processes, including cell-matrix adhesion; regulation of cell shape; and regulation of receptor internalization. Located in cytoplasm. Part of ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ11162; muskelin; muskelin 1, intracellular mediator containing kelch motifs; TWA2
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
GRCh387131,110,094 - 131,496,632 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7131,110,096 - 131,496,632 (+)EnsemblGRCh38hg38GRCh38
GRCh377130,794,853 - 131,181,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367130,663,175 - 130,831,931 (+)NCBINCBI36Build 36hg18NCBI36
Build 347130,469,892 - 130,638,645NCBI
Celera7125,545,899 - 125,932,352 (+)NCBICelera
Cytogenetic Map7q32.3NCBI
HuRef7125,110,633 - 125,497,059 (+)NCBIHuRef
CHM1_17130,728,553 - 131,115,275 (+)NCBICHM1_1
T2T-CHM13v2.07132,427,607 - 132,814,224 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27130,134,571 - 130,521,037 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cylindrospermopsin  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
glafenine  (ISO)
methapyrilene  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
propiconazole  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
thimerosal  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

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. cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH. Adams JC and Zhang L, Cytogenet Cell Genet 1999;87(1-2):19-21.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9724633   PMID:11006128   PMID:12477932   PMID:12559565   PMID:12690205   PMID:14702039   PMID:15084145   PMID:15489334   PMID:16344560   PMID:17353931   PMID:17467196   PMID:18710924  
PMID:19322201   PMID:20038947   PMID:20379614   PMID:21873635   PMID:23414517   PMID:23667531   PMID:23829686   PMID:25086665   PMID:25208829   PMID:25544563   PMID:25737280   PMID:26186194  
PMID:26496610   PMID:26972000   PMID:27173435   PMID:27769005   PMID:28514442   PMID:28611215   PMID:28668087   PMID:29117863   PMID:29507755   PMID:29911972   PMID:30021884   PMID:30585266  
PMID:31285494   PMID:31343991   PMID:32129710   PMID:32296183   PMID:33905682   PMID:33961781   PMID:33988065   PMID:34383978   PMID:34709727   PMID:35271311   PMID:35833506   PMID:35914814  
PMID:36215168   PMID:36398662   PMID:37166757   PMID:37314216   PMID:37372979   PMID:37549719   PMID:37827155   PMID:38113892   PMID:38334954   PMID:38460002  


Genomics

Comparative Map Data
MKLN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387131,110,094 - 131,496,632 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7131,110,096 - 131,496,632 (+)EnsemblGRCh38hg38GRCh38
GRCh377130,794,853 - 131,181,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367130,663,175 - 130,831,931 (+)NCBINCBI36Build 36hg18NCBI36
Build 347130,469,892 - 130,638,645NCBI
Celera7125,545,899 - 125,932,352 (+)NCBICelera
Cytogenetic Map7q32.3NCBI
HuRef7125,110,633 - 125,497,059 (+)NCBIHuRef
CHM1_17130,728,553 - 131,115,275 (+)NCBICHM1_1
T2T-CHM13v2.07132,427,607 - 132,814,224 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27130,134,571 - 130,521,037 (+)NCBI
Mkln1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39631,333,833 - 31,493,744 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl631,375,670 - 31,493,746 (+)EnsemblGRCm39 Ensembl
GRCm38631,398,828 - 31,516,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl631,398,735 - 31,516,811 (+)EnsemblGRCm38mm10GRCm38
MGSCv37631,348,828 - 31,459,482 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36631,329,008 - 31,439,645 (+)NCBIMGSCv36mm8
Celera631,385,689 - 31,497,090 (+)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.57NCBI
Mkln1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8460,939,239 - 61,095,214 (+)NCBIGRCr8
mRatBN7.2459,815,912 - 60,124,047 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl460,002,464 - 60,123,993 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx464,972,547 - 65,093,857 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0460,888,753 - 61,009,664 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0459,290,700 - 59,412,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0458,693,384 - 58,817,924 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl458,693,384 - 58,817,691 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0458,448,153 - 58,570,396 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4458,475,702 - 58,600,770 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1458,751,831 - 58,876,900 (+)NCBI
Celera455,092,934 - 55,213,778 (+)NCBICelera
Cytogenetic Map4q22NCBI
Mkln1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541036,251,987 - 36,542,802 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541036,251,987 - 36,568,537 (-)NCBIChiLan1.0ChiLan1.0
MKLN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26167,930,262 - 168,320,858 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1719,940,570 - 20,331,104 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07123,075,319 - 123,463,509 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17135,806,585 - 135,976,926 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7135,806,585 - 135,968,032 (+)Ensemblpanpan1.1panPan2
MKLN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1145,636,148 - 5,799,882 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl145,636,162 - 5,799,833 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha145,298,099 - 5,625,705 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0145,374,406 - 5,699,541 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl145,371,337 - 5,699,433 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1145,577,443 - 5,905,031 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0145,322,616 - 5,650,615 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0145,465,309 - 5,793,416 (-)NCBIUU_Cfam_GSD_1.0
Mkln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511823,841,621 - 24,179,321 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365793,982,296 - 4,150,063 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365793,982,296 - 4,150,071 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MKLN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1817,501,857 - 17,832,503 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11817,493,806 - 17,832,519 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21818,593,094 - 18,776,077 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MKLN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12199,952,000 - 100,123,380 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21100,007,890 - 100,123,139 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660423,255,971 - 3,434,499 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mkln1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247834,900,654 - 5,074,740 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247834,891,874 - 5,074,769 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MKLN1
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33		 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
NM_001145354.1(MKLN1):c.29+71772T>C single nucleotide variant Lung cancer [RCV000105609] Chr7:131214713 [GRCh38]
Chr7:130899472 [GRCh37]
Chr7:7q32.3		 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 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q32.3(chr7:131228764-131452396)x1 copy number loss See cases [RCV000137389] Chr7:131228764..131452396 [GRCh38]
Chr7:130913523..131137155 [GRCh37]
Chr7:130564063..130787695 [NCBI36]
Chr7:7q32.3		 uncertain significance
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722)x3 copy number gain See cases [RCV000447779] Chr7:130295389..132435722 [GRCh37]
Chr7:7q32.2-32.3		 uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 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 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
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(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7q32.3(chr7:130553262-130819459)x3 copy number gain not provided [RCV000747050] Chr7:130553262..130819459 [GRCh37]
Chr7:7q32.3		 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 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NM_013255.5(MKLN1):c.1607A>T (p.Asp536Val) single nucleotide variant not specified [RCV004305750] Chr7:131463298 [GRCh38]
Chr7:131148057 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7q32.3-33(chr7:130604326-133333388)x3 copy number gain not provided [RCV001006012] Chr7:130604326..133333388 [GRCh37]
Chr7:7q32.3-33		 uncertain significance
GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3 copy number gain not provided [RCV001006011] Chr7:129997717..133355098 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q32.2-32.3(chr7:130295389-132435722) copy number gain not specified [RCV002053731] Chr7:130295389..132435722 [GRCh37]
Chr7:7q32.2-32.3		 uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
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
GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1 copy number loss not provided [RCV002473525] Chr7:129147455..132777678 [GRCh37]
Chr7:7q32.1-33		 uncertain significance
NM_013255.5(MKLN1):c.1328A>T (p.Glu443Val) single nucleotide variant not specified [RCV004098161] Chr7:131443635 [GRCh38]
Chr7:131128394 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1534A>T (p.Thr512Ser) single nucleotide variant not specified [RCV004123783] Chr7:131463225 [GRCh38]
Chr7:131147984 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV004199969] Chr7:131327916 [GRCh38]
Chr7:131012675 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1480C>T (p.His494Tyr) single nucleotide variant not specified [RCV004099560] Chr7:131445858 [GRCh38]
Chr7:131130617 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1096A>G (p.Ile366Val) single nucleotide variant not specified [RCV004087139] Chr7:131437920 [GRCh38]
Chr7:131122679 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.2065G>A (p.Gly689Ser) single nucleotide variant not specified [RCV004159814] Chr7:131478656 [GRCh38]
Chr7:131163415 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.748C>G (p.Arg250Gly) single nucleotide variant not specified [RCV004227341] Chr7:131411350 [GRCh38]
Chr7:131096109 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1108A>G (p.Thr370Ala) single nucleotide variant not specified [RCV004096909] Chr7:131437932 [GRCh38]
Chr7:131122691 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.485A>G (p.Gln162Arg) single nucleotide variant not specified [RCV004259663] Chr7:131397351 [GRCh38]
Chr7:131082110 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_013255.5(MKLN1):c.2018A>G (p.Glu673Gly) single nucleotide variant not specified [RCV004496302] Chr7:131470931 [GRCh38]
Chr7:131155690 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.26C>T (p.Ala9Val) single nucleotide variant not specified [RCV004496621] Chr7:131327925 [GRCh38]
Chr7:131012684 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.859T>A (p.Leu287Met) single nucleotide variant not specified [RCV004496897] Chr7:131429044 [GRCh38]
Chr7:131113803 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.281A>G (p.Asn94Ser) single nucleotide variant not specified [RCV004628936] Chr7:131387232 [GRCh38]
Chr7:131071991 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.50C>T (p.Pro17Leu) single nucleotide variant not specified [RCV004825315] Chr7:131327949 [GRCh38]
Chr7:131012708 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1 copy number loss not provided [RCV004819354] Chr7:122190535..149944340 [GRCh37]
Chr7:7q31.32-36.1		 pathogenic
NM_013255.5(MKLN1):c.1087C>T (p.Arg363Cys) single nucleotide variant not specified [RCV004825316] Chr7:131437911 [GRCh38]
Chr7:131122670 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1406G>A (p.Cys469Tyr) single nucleotide variant not specified [RCV004824498] Chr7:131445784 [GRCh38]
Chr7:131130543 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.754A>C (p.Ser252Arg) single nucleotide variant not specified [RCV004825317] Chr7:131411356 [GRCh38]
Chr7:131096115 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.912T>A (p.Ser304Arg) single nucleotide variant not specified [RCV004497217] Chr7:131429097 [GRCh38]
Chr7:131113856 [GRCh37]
Chr7:7q32.3		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 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 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3 copy number gain not provided [RCV001258971] Chr7:129605827..133093756 [GRCh37]
Chr7:7q32.2-33		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_013255.5(MKLN1):c.1096A>C (p.Ile366Leu) single nucleotide variant not specified [RCV004109742] Chr7:131437920 [GRCh38]
Chr7:131122679 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.2126A>G (p.Gln709Arg) single nucleotide variant not specified [RCV004106575] Chr7:131487646 [GRCh38]
Chr7:131172405 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.32C>T (p.Pro11Leu) single nucleotide variant not specified [RCV004172696] Chr7:131327931 [GRCh38]
Chr7:131012690 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.770A>G (p.Lys257Arg) single nucleotide variant not specified [RCV004085810] Chr7:131411372 [GRCh38]
Chr7:131096131 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.1888T>G (p.Tyr630Asp) single nucleotide variant not specified [RCV004496015] Chr7:131466375 [GRCh38]
Chr7:131151134 [GRCh37]
Chr7:7q32.3		 uncertain significance
NM_013255.5(MKLN1):c.638A>G (p.His213Arg) single nucleotide variant not specified [RCV004501513] Chr7:131399368 [GRCh38]
Chr7:131084127 [GRCh37]
Chr7:7q32.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4679
Count of miRNA genes:1374
Interacting mature miRNAs:1816
Transcripts:ENST00000352689, ENST00000416992, ENST00000421797, ENST00000429546, ENST00000446815, ENST00000458153, ENST00000468830, ENST00000494286, ENST00000494785, ENST00000496815, ENST00000497746, ENST00000498778
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
597509405GWAS1605479_Hschizophrenia QTL GWAS1605479 (human)0.000006schizophrenia7131194899131194900Human
597370651GWAS1466725_Hmajor depressive disorder QTL GWAS1466725 (human)0.000003major depressive disorder7131215362131215363Human
597235865GWAS1331939_Helectrocardiography QTL GWAS1331939 (human)2e-08electrocardiography7131288736131288737Human
597143447GWAS1239521_HAlzheimer disease, APOE carrier status QTL GWAS1239521 (human)0.000005Alzheimer disease, APOE carrier status7131302207131302208Human
597498271GWAS1594345_Hsystolic blood pressure QTL GWAS1594345 (human)0.0000003systolic blood pressuresystolic blood pressure (CMO:0000004)7131278800131278801Human
597235867GWAS1331941_Helectrocardiography QTL GWAS1331941 (human)8e-09electrocardiography7131288736131288737Human
597235866GWAS1331940_Helectrocardiography QTL GWAS1331940 (human)4e-09electrocardiography7131288736131288737Human
597235869GWAS1331943_Helectrocardiography QTL GWAS1331943 (human)4e-08electrocardiography7131288736131288737Human
597235868GWAS1331942_Helectrocardiography QTL GWAS1331942 (human)5e-09electrocardiography7131288736131288737Human
597504667GWAS1600741_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1600741 (human)0.0000003severe acute respiratory syndrome, COVID-197131264651131264652Human
407124802GWAS773778_Hchildhood onset asthma QTL GWAS773778 (human)0.000004childhood onset asthma7131336340131336341Human
597235870GWAS1331944_Helectrocardiography QTL GWAS1331944 (human)4e-14systolic blood pressuresystolic blood pressure (CMO:0000004)7131288736131288737Human
597365267GWAS1461341_Hheel bone mineral density QTL GWAS1461341 (human)4e-09heel bone mineral densitybone mineral density (CMO:0001226)7131202928131202929Human
597369233GWAS1465307_Hheel bone mineral density QTL GWAS1465307 (human)5e-10heel bone mineral densitybone mineral density (CMO:0001226)7131202928131202929Human
597192467GWAS1288541_Hsystolic blood pressure QTL GWAS1288541 (human)6e-22systolic blood pressuresystolic blood pressure (CMO:0000004)7131288736131288737Human
597229193GWAS1325267_Helectrocardiography QTL GWAS1325267 (human)7e-10electrocardiography7131288736131288737Human
597402895GWAS1498969_Halopecia QTL GWAS1498969 (human)2e-09alopecia7131309621131309622Human
597402254GWAS1498328_Hage at assessment, lateral ventricle volume change measurement QTL GWAS1498328 (human)0.0000008age at assessment, lateral ventricle volume change measurement7131247363131247364Human
597228928GWAS1325002_Helectrocardiography QTL GWAS1325002 (human)9e-09electrocardiography7131288736131288737Human
597228929GWAS1325003_Helectrocardiography QTL GWAS1325003 (human)3e-09electrocardiography7131288736131288737Human
597229186GWAS1325260_Helectrocardiography QTL GWAS1325260 (human)9e-11electrocardiography7131288736131288737Human
597228930GWAS1325004_Helectrocardiography QTL GWAS1325004 (human)7e-11electrocardiography7131288736131288737Human
597229187GWAS1325261_Helectrocardiography QTL GWAS1325261 (human)8e-11electrocardiography7131288736131288737Human
597228931GWAS1325005_Helectrocardiography QTL GWAS1325005 (human)8e-10electrocardiography7131288736131288737Human
597229188GWAS1325262_Helectrocardiography QTL GWAS1325262 (human)1e-11pulse pressure measurementpulse pressure (CMO:0000292)7131288736131288737Human
597228932GWAS1325006_Helectrocardiography QTL GWAS1325006 (human)1e-09electrocardiography7131288736131288737Human
597338119GWAS1434193_Hpuberty onset measurement QTL GWAS1434193 (human)8e-28puberty onset measurement7131316707131316708Human
597142281GWAS1238355_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1238355 (human)0.000003severe acute respiratory syndrome, COVID-197131293284131293285Human
597126327GWAS1222401_Helectrocardiography QTL GWAS1222401 (human)7e-14electrocardiography7131288736131288737Human
597386682GWAS1482756_Hlung carcinoma QTL GWAS1482756 (human)8e-08lung carcinoma7131247904131247905Human
597126326GWAS1222400_Helectrocardiography QTL GWAS1222400 (human)5e-13electrocardiography7131288736131288737Human
597134006GWAS1230080_Hdiastolic blood pressure QTL GWAS1230080 (human)0.000001diastolic blood pressurediastolic blood pressure (CMO:0000005)7131288736131288737Human
597126325GWAS1222399_Helectrocardiography QTL GWAS1222399 (human)6e-11electrocardiography7131288736131288737Human
597126324GWAS1222398_Helectrocardiography QTL GWAS1222398 (human)2e-10electrocardiography7131288736131288737Human
597126452GWAS1222526_Helectrocardiography QTL GWAS1222526 (human)2e-09electrocardiography7131288736131288737Human
597126323GWAS1222397_Helectrocardiography QTL GWAS1222397 (human)3e-10pulse pressure measurementpulse pressure (CMO:0000292)7131288736131288737Human
597126451GWAS1222525_Helectrocardiography QTL GWAS1222525 (human)6e-12electrocardiography7131288736131288737Human
597126322GWAS1222396_Helectrocardiography QTL GWAS1222396 (human)1e-10electrocardiography7131288736131288737Human
597126450GWAS1222524_Helectrocardiography QTL GWAS1222524 (human)3e-12electrocardiography7131288736131288737Human
597476794GWAS1572868_Hmelanoma QTL GWAS1572868 (human)0.0000005melanoma7131202508131202509Human
596978995GWAS1098514_Hsystolic blood pressure QTL GWAS1098514 (human)1e-19systolic blood pressure7131288736131288737Human
597126321GWAS1222395_Helectrocardiography QTL GWAS1222395 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)7131288736131288737Human
597126449GWAS1222523_Helectrocardiography QTL GWAS1222523 (human)1e-12electrocardiography7131288736131288737Human
597126448GWAS1222522_Helectrocardiography QTL GWAS1222522 (human)4e-12electrocardiography7131288736131288737Human
597126334GWAS1222408_Helectrocardiography QTL GWAS1222408 (human)3e-13electrocardiography7131288736131288737Human
597126333GWAS1222407_Helectrocardiography QTL GWAS1222407 (human)1e-13electrocardiography7131288736131288737Human
597126332GWAS1222406_Helectrocardiography QTL GWAS1222406 (human)8e-13electrocardiography7131288736131288737Human
597323958GWAS1420032_Hsystolic blood pressure QTL GWAS1420032 (human)1e-19systolic blood pressuresystolic blood pressure (CMO:0000004)7131288736131288737Human
597126331GWAS1222405_Helectrocardiography QTL GWAS1222405 (human)9e-13electrocardiography7131288736131288737Human
597392438GWAS1488512_Hpersistent Staphylococcus aureus carrier status QTL GWAS1488512 (human)0.000002response to bacterial infection trait (VT:0010435)7131134323131134324Human
597480369GWAS1576443_HPR interval QTL GWAS1576443 (human)3e-15PR intervalPR interval (CMO:0000233)7131279012131279013Human
597126330GWAS1222404_Helectrocardiography QTL GWAS1222404 (human)7e-13electrocardiography7131288736131288737Human
597126329GWAS1222403_Helectrocardiography QTL GWAS1222403 (human)3e-11electrocardiography7131288736131288737Human
597126328GWAS1222402_Helectrocardiography QTL GWAS1222402 (human)2e-12electrocardiography7131288736131288737Human
597016612GWAS1112686_Hbipolar disorder QTL GWAS1112686 (human)0.0000006bipolar disorder7131128204131128205Human
597402787GWAS1498861_Hsystolic blood pressure QTL GWAS1498861 (human)4e-20systolic blood pressuresystolic blood pressure (CMO:0000004)7131279778131279779Human
597425059GWAS1521133_Hsystolic blood pressure QTL GWAS1521133 (human)1e-08systolic blood pressuresystolic blood pressure (CMO:0000004)7131285012131285013Human
597425058GWAS1521132_Hsystolic blood pressure QTL GWAS1521132 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)7131272497131272498Human
597310112GWAS1406186_Hvaginal microbiome measurement QTL GWAS1406186 (human)0.000002vaginal microbiome measurement7131350032131350033Human
597337382GWAS1433456_Hpuberty onset measurement QTL GWAS1433456 (human)1e-18puberty onset measurement7131316707131316708Human
407019773GWAS668749_Hunipolar depression QTL GWAS668749 (human)0.000003unipolar depression7131215362131215363Human
597425060GWAS1521134_Hsystolic blood pressure QTL GWAS1521134 (human)2e-16systolic blood pressuresystolic blood pressure (CMO:0000004)7131475929131475930Human
596963927GWAS1083446_Hmajor depressive disorder QTL GWAS1083446 (human)0.000003major depressive disorder7131215362131215363Human
597337938GWAS1434012_Hpuberty onset measurement QTL GWAS1434012 (human)0.000005puberty onset measurement7131316707131316708Human
597335506GWAS1431580_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1431580 (human)1e-11severe acute respiratory syndrome, COVID-197131447581131447582Human
597337558GWAS1433632_Hpuberty onset measurement QTL GWAS1433632 (human)8e-34puberty onset measurement7131316707131316708Human
597468361GWAS1564435_Handrogenetic alopecia QTL GWAS1564435 (human)3e-08androgenetic alopecia7131309621131309622Human
597392577GWAS1488651_Hnevus count, cutaneous melanoma QTL GWAS1488651 (human)1e-11nevus count, cutaneous melanoma7131223024131223025Human
597144523GWAS1240597_HAPOE carrier status, dementia QTL GWAS1240597 (human)0.000002APOE carrier status, dementia7131302207131302208Human
597456509GWAS1552583_Hdiastolic blood pressure QTL GWAS1552583 (human)2e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)7131475929131475930Human
597366271GWAS1462345_Hbalding measurement QTL GWAS1462345 (human)6e-48hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)7131311855131311856Human
597489914GWAS1585988_HCOVID-19 QTL GWAS1585988 (human)0.000007COVID-197131280283131280284Human
597228927GWAS1325001_Helectrocardiography QTL GWAS1325001 (human)1e-08electrocardiography7131288736131288737Human
597338354GWAS1434428_Hpuberty onset measurement QTL GWAS1434428 (human)0.0000007puberty onset measurement7131316707131316708Human
597215735GWAS1311809_Hpulse pressure measurement QTL GWAS1311809 (human)1e-20pulse pressure measurementpulse pressure (CMO:0000292)7131288736131288737Human
597460968GWAS1557042_Hbalding measurement QTL GWAS1557042 (human)6e-34hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)7131323577131323578Human
597495272GWAS1591346_Hsystolic blood pressure QTL GWAS1591346 (human)5e-09systolic blood pressuresystolic blood pressure (CMO:0000004)7131278800131278801Human
406963254GWAS612230_Hsystolic blood pressure QTL GWAS612230 (human)2e-12systolic blood pressuresystolic blood pressure (CMO:0000004)7131374297131374298Human
407276476GWAS925452_HPR interval QTL GWAS925452 (human)4e-31PR intervalPR interval (CMO:0000233)7131288736131288737Human

Markers in Region
D7S2531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,935,801 - 130,935,961UniSTSGRCh37
GRCh377130,935,887 - 130,935,978UniSTSGRCh37
Build 367130,586,341 - 130,586,501RGDNCBI36
Celera7125,686,785 - 125,686,945RGD
Celera7125,686,871 - 125,686,962UniSTS
Cytogenetic Map7q32UniSTS
HuRef7125,251,712 - 125,251,803UniSTS
HuRef7125,251,622 - 125,251,786UniSTS
CRA_TCAGchr7v27130,275,473 - 130,275,633UniSTS
CRA_TCAGchr7v27130,275,559 - 130,275,650UniSTS
Marshfield Genetic Map7136.06UniSTS
Marshfield Genetic Map7136.06RGD
Genethon Genetic Map7138.1UniSTS
TNG Radiation Hybrid Map758970.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
DXS8011  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map2p23UniSTS
Marshfield Genetic MapX98.2UniSTS
Marshfield Genetic MapX98.2RGD
Genethon Genetic MapX190.4UniSTS
Whitehead-YAC Contig MapX UniSTS
D7S649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,857,680 - 130,857,777UniSTSGRCh37
GRCh377130,857,674 - 130,857,950UniSTSGRCh37
GRCh377130,857,674 - 130,857,809UniSTSGRCh37
Build 367130,508,214 - 130,508,490RGDNCBI36
Celera7125,608,718 - 125,608,994RGD
Celera7125,608,724 - 125,608,821UniSTS
Celera7125,608,718 - 125,608,853UniSTS
Cytogenetic Map7q32UniSTS
HuRef7125,173,339 - 125,173,436UniSTS
HuRef7125,173,333 - 125,173,468UniSTS
HuRef7125,173,333 - 125,173,609UniSTS
CRA_TCAGchr7v27130,197,400 - 130,197,676UniSTS
CRA_TCAGchr7v27130,197,406 - 130,197,503UniSTS
CRA_TCAGchr7v27130,197,400 - 130,197,535UniSTS
Marshfield Genetic Map7136.06RGD
Genethon Genetic Map7138.0UniSTS
TNG Radiation Hybrid Map758940.0UniSTS
deCODE Assembly Map7133.83UniSTS
GeneMap99-GB4 RH Map7597.44UniSTS
Whitehead-RH Map7570.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:4585556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,178,667 - 131,178,729UniSTSGRCh37
Build 367130,829,207 - 130,829,269RGDNCBI36
Celera7125,929,621 - 125,929,683RGD
Cytogenetic Map7q32UniSTS
HuRef7125,494,328 - 125,494,390UniSTS
CRA_TCAGchr7v27130,518,306 - 130,518,368UniSTS
D7S2790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,170,688 - 131,170,797UniSTSGRCh37
Build 367130,821,228 - 130,821,337RGDNCBI36
Celera7125,921,640 - 125,921,749RGD
Cytogenetic Map7q32UniSTS
HuRef7125,486,396 - 125,486,505UniSTS
CRA_TCAGchr7v27130,510,326 - 130,510,435UniSTS
GeneMap99-GB4 RH Map7601.14UniSTS
Whitehead-RH Map7583.4UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,159,929 - 131,160,058UniSTSGRCh37
Build 367130,810,469 - 130,810,598RGDNCBI36
Celera7125,910,883 - 125,911,012RGD
Cytogenetic Map7q32UniSTS
HuRef7125,475,639 - 125,475,768UniSTS
CRA_TCAGchr7v27130,499,569 - 130,499,698UniSTS
SHGC-83000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,827,620 - 130,827,891UniSTSGRCh37
Build 367130,478,160 - 130,478,431RGDNCBI36
Celera7125,578,663 - 125,578,934RGD
Cytogenetic Map7q32UniSTS
HuRef7125,143,276 - 125,143,547UniSTS
CRA_TCAGchr7v27130,167,342 - 130,167,613UniSTS
TNG Radiation Hybrid Map758923.0UniSTS
RH122072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,138,989 - 131,139,324UniSTSGRCh37
Build 367130,789,529 - 130,789,864RGDNCBI36
Celera7125,889,947 - 125,890,282RGD
Cytogenetic Map7q32UniSTS
HuRef7125,454,704 - 125,455,039UniSTS
CRA_TCAGchr7v27130,478,633 - 130,478,968UniSTS
TNG Radiation Hybrid Map759018.0UniSTS
SHGC-110664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,031,316 - 131,031,590UniSTSGRCh37
Build 367130,681,856 - 130,682,130RGDNCBI36
Celera7125,782,293 - 125,782,567RGD
Cytogenetic Map7q32UniSTS
HuRef7125,347,028 - 125,347,302UniSTS
CRA_TCAGchr7v27130,370,982 - 130,371,256UniSTS
TNG Radiation Hybrid Map759003.0UniSTS
SHGC-111218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,109,832 - 131,110,169UniSTSGRCh37
Build 367130,760,372 - 130,760,709RGDNCBI36
Celera7125,860,806 - 125,861,143RGD
Cytogenetic Map7q32UniSTS
HuRef7125,425,580 - 125,425,917UniSTS
CRA_TCAGchr7v27130,449,496 - 130,449,833UniSTS
TNG Radiation Hybrid Map759014.0UniSTS
SHGC-111692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,035,328 - 131,035,600UniSTSGRCh37
Build 367130,685,868 - 130,686,140RGDNCBI36
Celera7125,786,306 - 125,786,578RGD
Cytogenetic Map7q32UniSTS
HuRef7125,351,040 - 125,351,312UniSTS
CRA_TCAGchr7v27130,374,995 - 130,375,267UniSTS
TNG Radiation Hybrid Map759003.0UniSTS
D7S1946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,947,895 - 130,947,960UniSTSGRCh37
Build 367130,598,435 - 130,598,500RGDNCBI36
Celera7125,698,878 - 125,698,943RGD
Cytogenetic Map7q32UniSTS
HuRef7125,263,678 - 125,263,743UniSTS
CRA_TCAGchr7v27130,287,567 - 130,287,632UniSTS
D7S2894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,170,814 - 131,170,949UniSTSGRCh37
Build 367130,821,354 - 130,821,489RGDNCBI36
Celera7125,921,766 - 125,921,901RGD
Cytogenetic Map7q32UniSTS
HuRef7125,486,522 - 125,486,657UniSTS
CRA_TCAGchr7v27130,510,452 - 130,510,587UniSTS
RH128619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,172,438 - 131,172,653UniSTSGRCh37
Build 367130,822,978 - 130,823,193RGDNCBI36
Celera7125,923,390 - 125,923,605RGD
HuRef7125,488,145 - 125,488,360UniSTS
CRA_TCAGchr7v27130,512,075 - 130,512,290UniSTS
D7S3054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,859,689 - 130,859,801UniSTSGRCh37
Build 367130,510,229 - 130,510,341RGDNCBI36
Celera7125,610,733 - 125,610,837RGD
Cytogenetic Map7q32UniSTS
HuRef7125,175,342 - 125,175,446UniSTS
CRA_TCAGchr7v27130,199,415 - 130,199,519UniSTS
Marshfield Genetic Map7134.55UniSTS
deCODE Assembly Map7133.83UniSTS
HSC20C032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,181,110 - 131,181,310UniSTSGRCh37
Build 367130,831,650 - 130,831,850RGDNCBI36
Celera7125,932,064 - 125,932,264RGD
Cytogenetic Map7q32UniSTS
HuRef7125,496,771 - 125,496,971UniSTS
CRA_TCAGchr7v27130,520,749 - 130,520,949UniSTS
GeneMap99-GB4 RH Map7601.14UniSTS
Whitehead-RH Map7583.5UniSTS
D7S1575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,045,318 - 131,045,401UniSTSGRCh37
Build 367130,695,858 - 130,695,941RGDNCBI36
Celera7125,796,296 - 125,796,379RGD
Cytogenetic Map7q32UniSTS
HuRef7125,361,107 - 125,361,190UniSTS
CRA_TCAGchr7v27130,384,985 - 130,385,068UniSTS
D7S2961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377130,943,898 - 130,943,957UniSTSGRCh37
Build 367130,594,438 - 130,594,497RGDNCBI36
Celera7125,694,883 - 125,694,942RGD
Cytogenetic Map7q32UniSTS
HuRef7125,259,717 - 125,259,776UniSTS
CRA_TCAGchr7v27130,283,570 - 130,283,629UniSTS
A004O23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,172,486 - 131,172,695UniSTSGRCh37
Build 367130,823,026 - 130,823,235RGDNCBI36
Celera7125,923,438 - 125,923,647RGD
Cytogenetic Map7q32UniSTS
HuRef7125,488,193 - 125,488,402UniSTS
CRA_TCAGchr7v27130,512,123 - 130,512,332UniSTS
GeneMap99-GB4 RH Map7601.46UniSTS
RH10996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,124,263 - 131,124,462UniSTSGRCh37
Build 367130,774,803 - 130,775,002RGDNCBI36
Celera7125,875,237 - 125,875,436RGD
Cytogenetic Map7q32UniSTS
HuRef7125,440,011 - 125,440,210UniSTS
CRA_TCAGchr7v27130,463,928 - 130,464,127UniSTS
GeneMap99-GB4 RH Map7599.89UniSTS
RH75489  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p15UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map16p13.12UniSTS
G32265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377131,159,939 - 131,160,039UniSTSGRCh37
Celera7125,910,893 - 125,910,993UniSTS
Cytogenetic Map7q32UniSTS
HuRef7125,475,649 - 125,475,749UniSTS
CRA_TCAGchr7v27130,499,579 - 130,499,679UniSTS
A005Q09  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32UniSTS
HuRef7125,475,649 - 125,475,749UniSTS
GeneMap99-GB4 RH Map7599.89UniSTS
D7S2531  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32UniSTS
D7S649  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32UniSTS
D7S649  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32UniSTS
Marshfield Genetic Map7136.06UniSTS
Genethon Genetic Map7138.0UniSTS
deCODE Assembly Map7133.83UniSTS
GeneMap99-GB4 RH Map7597.44UniSTS
Whitehead-RH Map7570.2UniSTS
Whitehead-YAC Contig Map7 UniSTS


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 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA284481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA451916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF047489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI928463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL705061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW505004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX878026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE778355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU945366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB046426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA172589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000352689   ⟹   ENSP00000323527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,327,876 - 131,496,632 (+)Ensembl
Ensembl Acc Id: ENST00000416992   ⟹   ENSP00000387920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,110,140 - 131,399,384 (+)Ensembl
Ensembl Acc Id: ENST00000421797   ⟹   ENSP00000398094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,110,096 - 131,487,844 (+)Ensembl
Ensembl Acc Id: ENST00000429546   ⟹   ENSP00000399954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,285,062 - 131,399,357 (+)Ensembl
Ensembl Acc Id: ENST00000446815   ⟹   ENSP00000412815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,327,846 - 131,399,297 (+)Ensembl
Ensembl Acc Id: ENST00000458153   ⟹   ENSP00000407705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,327,897 - 131,487,962 (+)Ensembl
Ensembl Acc Id: ENST00000468830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,478,471 - 131,487,962 (+)Ensembl
Ensembl Acc Id: ENST00000494286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,327,856 - 131,414,703 (+)Ensembl
Ensembl Acc Id: ENST00000494785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,327,883 - 131,478,960 (+)Ensembl
Ensembl Acc Id: ENST00000496815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,470,838 - 131,472,267 (+)Ensembl
Ensembl Acc Id: ENST00000497746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,463,325 - 131,471,178 (+)Ensembl
Ensembl Acc Id: ENST00000498778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7131,463,276 - 131,490,539 (+)Ensembl
RefSeq Acc Id: NM_001145354   ⟹   NP_001138826
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,110,094 - 131,496,632 (+)NCBI
GRCh377130,794,855 - 131,181,398 (+)RGD
Celera7125,545,899 - 125,932,352 (+)RGD
HuRef7125,110,633 - 125,497,059 (+)ENTREZGENE
CHM1_17130,728,553 - 131,115,275 (+)NCBI
T2T-CHM13v2.07132,427,607 - 132,814,224 (+)NCBI
CRA_TCAGchr7v27130,134,571 - 130,521,037 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001321316   ⟹   NP_001308245
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,327,876 - 131,496,632 (+)NCBI
CHM1_17130,946,469 - 131,115,275 (+)NCBI
T2T-CHM13v2.07132,645,521 - 132,814,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013255   ⟹   NP_037387
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,327,876 - 131,496,632 (+)NCBI
GRCh377130,794,855 - 131,181,398 (+)RGD
Build 367130,663,175 - 130,831,931 (+)NCBI Archive
Celera7125,545,899 - 125,932,352 (+)RGD
HuRef7125,110,633 - 125,497,059 (+)ENTREZGENE
CHM1_17130,946,469 - 131,115,275 (+)NCBI
T2T-CHM13v2.07132,645,521 - 132,814,224 (+)NCBI
CRA_TCAGchr7v27130,134,571 - 130,521,037 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006715993   ⟹   XP_006716056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,327,876 - 131,496,632 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516224   ⟹   XP_011514526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,327,876 - 131,463,307 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420401   ⟹   XP_047276357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,110,094 - 131,496,632 (+)NCBI
RefSeq Acc Id: XM_047420402   ⟹   XP_047276358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,372,742 - 131,496,632 (+)NCBI
RefSeq Acc Id: XM_054358257   ⟹   XP_054214232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07132,645,521 - 132,814,224 (+)NCBI
RefSeq Acc Id: XM_054358258   ⟹   XP_054214233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07132,427,607 - 132,814,224 (+)NCBI
RefSeq Acc Id: XM_054358259   ⟹   XP_054214234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07132,645,521 - 132,780,904 (+)NCBI
RefSeq Acc Id: NP_001138826   ⟸   NM_001145354
- Peptide Label: isoform 1
- UniProtKB: B4DG30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_037387   ⟸   NM_013255
- Peptide Label: isoform 2
- UniProtKB: Q9NSK4 (UniProtKB/Swiss-Prot),   A6NG43 (UniProtKB/Swiss-Prot),   A4D1M8 (UniProtKB/Swiss-Prot),   Q9NUS8 (UniProtKB/Swiss-Prot),   Q9UL63 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716056   ⟸   XM_006715993
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514526   ⟸   XM_011516224
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001308245   ⟸   NM_001321316
- Peptide Label: isoform 3
- UniProtKB: Q9UL63 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000399954   ⟸   ENST00000429546
Ensembl Acc Id: ENSP00000387920   ⟸   ENST00000416992
Ensembl Acc Id: ENSP00000407705   ⟸   ENST00000458153
Ensembl Acc Id: ENSP00000323527   ⟸   ENST00000352689
Ensembl Acc Id: ENSP00000412815   ⟸   ENST00000446815
Ensembl Acc Id: ENSP00000398094   ⟸   ENST00000421797
RefSeq Acc Id: XP_047276357   ⟸   XM_047420401
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047276358   ⟸   XM_047420402
- Peptide Label: isoform X4
- UniProtKB: C9J7E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214233   ⟸   XM_054358258
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054214232   ⟸   XM_054358257
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214234   ⟸   XM_054358259
- Peptide Label: isoform X3
Protein Domains
CTLH   LisH   Muskelin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UL63-F1-model_v2 AlphaFold Q9UL63 1-735 view protein structure

Promoters
RGD ID:6805534
Promoter ID:HG_KWN:59714
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:ENST00000388758,   NM_013255,   OTTHUMT00000337561,   OTTHUMT00000337562,   UC003VQS.1,   UC003VQT.1,   UC010LMH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367130,662,954 - 130,663,454 (+)MPROMDB
RGD ID:6850638
Promoter ID:EP73113
Type:multiple initiation site
Name:HS_MKLN1
Description:Muskelin 1, intracellular mediator containing kelch motifs.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 367130,663,190 - 130,663,250EPD
RGD ID:7211943
Promoter ID:EPDNEW_H11717
Type:initiation region
Name:MKLN1_2
Description:muskelin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11718  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,110,029 - 131,110,089EPDNEW
RGD ID:7211945
Promoter ID:EPDNEW_H11718
Type:initiation region
Name:MKLN1_1
Description:muskelin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11717  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387131,327,891 - 131,327,951EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7109 AgrOrtholog
COSMIC MKLN1 COSMIC
Ensembl Genes ENSG00000128585 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000352689 ENTREZGENE
  ENST00000352689.11 UniProtKB/Swiss-Prot
  ENST00000416992.6 UniProtKB/TrEMBL
  ENST00000421797 ENTREZGENE
  ENST00000421797.6 UniProtKB/TrEMBL
  ENST00000429546.5 UniProtKB/TrEMBL
  ENST00000446815.5 UniProtKB/TrEMBL
  ENST00000458153.5 UniProtKB/TrEMBL
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128585 GTEx
HGNC ID HGNC:7109 ENTREZGENE
Human Proteome Map MKLN1 Human Proteome Map
InterPro CTLH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CTLH_complex_component UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gal_Oxase/kelch_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Muskelin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4289 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4289 ENTREZGENE
OMIM 605623 OMIM
PANTHER MUSKELIN UniProtKB/Swiss-Prot
  MUSKELIN UniProtKB/Swiss-Prot
  MUSKELIN UniProtKB/TrEMBL
  MUSKELIN UniProtKB/TrEMBL
Pfam Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Muskelin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30828 PharmGKB
PROSITE CTLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LISH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50965 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D1M8 ENTREZGENE
  A6NG43 ENTREZGENE
  B4DG30 ENTREZGENE, UniProtKB/TrEMBL
  C9J7E8 ENTREZGENE, UniProtKB/TrEMBL
  C9JVL5_HUMAN UniProtKB/TrEMBL
  C9JWX9_HUMAN UniProtKB/TrEMBL
  C9JXB0_HUMAN UniProtKB/TrEMBL
  F8WEY7_HUMAN UniProtKB/TrEMBL
  MKLN1_HUMAN UniProtKB/Swiss-Prot
  Q9NSK4 ENTREZGENE
  Q9NUS8 ENTREZGENE
  Q9UL63 ENTREZGENE
UniProt Secondary A4D1M8 UniProtKB/Swiss-Prot
  A6NG43 UniProtKB/Swiss-Prot
  Q9NSK4 UniProtKB/Swiss-Prot
  Q9NUS8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 MKLN1  muskelin 1  MKLN1  muskelin 1, intracellular mediator containing kelch motifs  Symbol and/or name change 5135510 APPROVED