MTUS1 (microtubule associated scaffold protein 1) - Rat Genome Database

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Gene: MTUS1 (microtubule associated scaffold protein 1) Homo sapiens
Analyze
Symbol: MTUS1
Name: microtubule associated scaffold protein 1
RGD ID: 1343554
HGNC Page HGNC:29789
Description: Predicted to enable microtubule binding activity. Predicted to be involved in regulation of macrophage chemotaxis. Located in microtubule cytoskeleton and nucleolus. Biomarker of breast carcinoma; gastrointestinal system cancer (multiple); and ovarian carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: angiotensin-II type 2 receptor-interacting protein; AT2 receptor-binding protein; AT2 receptor-interacting protein; AT2R binding protein; ATBP; ATIP; ATIP3; DKFZp586D1519; DKFZp686F20243; erythroid differentiation-related; FLJ14295; ICIS; KIAA1288; microtubule associated tumor suppressor 1; microtubule-associated tumor suppressor 1; mitochondrial tumor suppressor gene 1; MP44; MTSG1; transcription factor MTSG1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38817,643,802 - 17,801,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl817,643,795 - 17,801,094 (-)EnsemblGRCh38hg38GRCh38
GRCh37817,501,311 - 17,659,030 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,545,583 - 17,702,666 (-)NCBINCBI36Build 36hg18NCBI36
Celera816,466,963 - 16,624,476 (-)NCBICelera
Cytogenetic Map8p22NCBI
HuRef816,045,792 - 16,202,703 (-)NCBIHuRef
CHM1_1817,702,752 - 17,859,884 (-)NCBICHM1_1
T2T-CHM13v2.0817,910,954 - 18,069,106 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
astemizole  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
celecoxib  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
furan  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
hydroquinone  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
PD123319  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (EXP,ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Down-regulation of tumor suppressor MTUS1/ATIP is associated with enhanced proliferation, poor differentiation and poor prognosis in oral tongue squamous cell carcinoma. Ding X, etal., Mol Oncol. 2012 Feb;6(1):73-80. doi: 10.1016/j.molonc.2011.11.002. Epub 2011 Nov 18.
2. Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival. Pils D, etal., Cancer. 2005 Dec 1;104(11):2417-29.
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
5. An ATIPical family of angiotensin II AT2 receptor-interacting proteins. Rodrigues-Ferreira S and Nahmias C, Trends Endocrinol Metab. 2010 Nov;21(11):684-90.
6. 8p22 MTUS1 gene product ATIP3 is a novel anti-mitotic protein underexpressed in invasive breast carcinoma of poor prognosis. Rodrigues-Ferreira S, etal., PLoS One. 2009 Oct 1;4(10):e7239.
7. Identification of a new tumor suppressor gene located at chromosome 8p21.3-22. Seibold S, etal., FASEB J 2003 Jun;17(9):1180-2.
8. Loss of MTUS1 Expression Is Associated With Poor Prognosis in Patients With Gallbladder Carcinoma. Sim J, etal., In Vivo. 2020 Jan-Feb;34(1):125-132. doi: 10.21873/invivo.11753.
9. MTUS1/ATIP3a down-regulation is associated with enhanced migration, invasion and poor prognosis in salivary adenoid cystic carcinoma. Zhao T, etal., BMC Cancer. 2015 Mar 31;15:203. doi: 10.1186/s12885-015-1209-x.
10. Down-regulation of MTUS1 in human colon tumors. Zuern C, etal., Oncol Rep. 2010 Jan;23(1):183-9.
Additional References at PubMed
PMID:8401585   PMID:10574462   PMID:10737800   PMID:12477932   PMID:14702039   PMID:15123706   PMID:16344560   PMID:16650523   PMID:16887298   PMID:17068200   PMID:17301065   PMID:18519826  
PMID:19344625   PMID:19545354   PMID:20379614   PMID:20687230   PMID:21873635   PMID:21988832   PMID:22664934   PMID:22678362   PMID:23396587   PMID:24299308   PMID:24650297   PMID:26186194  
PMID:26496610   PMID:26498358   PMID:26638075   PMID:26643896   PMID:27155522   PMID:27503909   PMID:27705803   PMID:27789289   PMID:27880917   PMID:28364280   PMID:28499941   PMID:28514442  
PMID:28651497   PMID:28718761   PMID:29089450   PMID:29509794   PMID:29558204   PMID:30021884   PMID:30344098   PMID:30368744   PMID:30528566   PMID:31210288   PMID:31685623   PMID:31753913  
PMID:31980649   PMID:32296183   PMID:32373949   PMID:32687490   PMID:32789689   PMID:33311452   PMID:33961781   PMID:34062782   PMID:34079125   PMID:34125870   PMID:35271311   PMID:35831314  
PMID:35944360   PMID:35962436  


Genomics

Comparative Map Data
MTUS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38817,643,802 - 17,801,521 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl817,643,795 - 17,801,094 (-)EnsemblGRCh38hg38GRCh38
GRCh37817,501,311 - 17,659,030 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36817,545,583 - 17,702,666 (-)NCBINCBI36Build 36hg18NCBI36
Celera816,466,963 - 16,624,476 (-)NCBICelera
Cytogenetic Map8p22NCBI
HuRef816,045,792 - 16,202,703 (-)NCBIHuRef
CHM1_1817,702,752 - 17,859,884 (-)NCBICHM1_1
T2T-CHM13v2.0817,910,954 - 18,069,106 (-)NCBIT2T-CHM13v2.0
Mtus1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39841,443,949 - 41,587,318 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl841,443,951 - 41,586,763 (-)EnsemblGRCm39 Ensembl
GRCm38840,990,912 - 41,133,983 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl840,990,914 - 41,133,726 (-)EnsemblGRCm38mm10GRCm38
MGSCv37842,076,266 - 42,219,080 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36842,483,630 - 42,583,725 (-)NCBIMGSCv36mm8
Celera843,620,541 - 43,768,183 (-)NCBICelera
Cytogenetic Map8A4NCBI
Mtus1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21651,202,497 - 51,347,791 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1651,253,562 - 51,347,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1656,523,752 - 56,667,067 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01659,921,798 - 60,066,935 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01655,157,687 - 55,301,013 (+)NCBIRnor_WKY
Rnor_6.01654,240,892 - 54,386,131 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1654,291,251 - 54,386,129 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01653,953,029 - 54,098,281 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41654,611,502 - 54,664,075 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11654,611,808 - 54,661,662 (+)NCBI
Celera1649,189,574 - 49,242,085 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
Mtus1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555521,924,922 - 2,040,653 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555521,867,477 - 2,040,659 (+)NCBIChiLan1.0ChiLan1.0
MTUS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1811,844,865 - 12,002,800 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0816,863,307 - 17,020,684 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1813,815,404 - 13,973,111 (-)NCBIpanpan1.1PanPan1.1panPan2
MTUS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11640,955,619 - 41,118,601 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1640,957,574 - 41,068,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1641,462,449 - 41,627,707 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01643,011,175 - 43,176,981 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1643,009,798 - 43,177,320 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11641,104,451 - 41,220,245 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01641,648,152 - 41,813,671 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01641,842,816 - 42,008,328 (-)NCBIUU_Cfam_GSD_1.0
Mtus1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494338,219,444 - 38,364,919 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936614240,113 - 387,730 (-)EnsemblSpeTri2.0
SpeTri2.0NW_004936614242,710 - 387,541 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTUS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl175,329,750 - 5,507,119 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1175,331,668 - 5,507,212 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2175,869,064 - 5,914,352 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTUS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1815,739,220 - 15,899,834 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl815,741,294 - 15,853,293 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605226,376,799 - 26,538,425 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtus1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476921,399,747 - 21,617,753 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTUS1
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 copy number gain See cases [RCV000053634] Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
NM_001001924.2(MTUS1):c.2148C>T (p.Ser716=) single nucleotide variant Malignant melanoma [RCV000068228] Chr8:17743743 [GRCh38]
Chr8:17601252 [GRCh37]
Chr8:17645532 [NCBI36]
Chr8:8p22		 not provided
NM_001001924.2(MTUS1):c.1611C>T (p.Thr537=) single nucleotide variant Malignant melanoma [RCV000068229] Chr8:17754197 [GRCh38]
Chr8:17611706 [GRCh37]
Chr8:17655986 [NCBI36]
Chr8:8p22		 not provided
NM_001001924.2(MTUS1):c.2839-2528C>T single nucleotide variant Lung cancer [RCV000107254] Chr8:17677780 [GRCh38]
Chr8:17535289 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 copy number gain See cases [RCV000135294] Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p22(chr8:17389229-17925178)x3 copy number gain See cases [RCV000138299] Chr8:17389229..17925178 [GRCh38]
Chr8:17246738..17782687 [GRCh37]
Chr8:17291109..17826967 [NCBI36]
Chr8:8p22		 likely benign
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p22(chr8:17714835-18141353)x1 copy number loss See cases [RCV000141957] Chr8:17714835..18141353 [GRCh38]
Chr8:17572344..17998862 [GRCh37]
Chr8:17616624..18043142 [NCBI36]
Chr8:8p22		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
NM_001363059.2(MTUS1):c.2288-111_2449+391del deletion Large for gestational age [RCV000161535]|Normal pregnancy [RCV000161531] Chr8:17723281..17723944 [GRCh38]
Chr8:17580790..17581453 [GRCh37]
Chr8:8p22		 not provided
NM_001363059.2(MTUS1):c.2288-795_2449+390del deletion Normal pregnancy [RCV000161532]|Preeclampsia [RCV000161536]|Small for gestational age [RCV000161534] Chr8:17723282..17724628 [GRCh38]
Chr8:17580791..17582137 [GRCh37]
Chr8:8p22		 not provided
NM_001363059.2(MTUS1):c.2288-358_2449+390del deletion Gestational diabetes mellitus uncontrolled [RCV000161537]|Normal pregnancy [RCV000161533] Chr8:17723282..17724191 [GRCh38]
Chr8:17580791..17581700 [GRCh37]
Chr8:8p22		 not provided
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p22(chr8:17294405-17919470)x3 copy number gain See cases [RCV000598817] Chr8:17294405..17919470 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)x3 copy number gain See cases [RCV000446821] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
GRCh37/hg19 8p22(chr8:16657256-17861898)x3 copy number gain See cases [RCV000447330] Chr8:16657256..17861898 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 copy number gain See cases [RCV000448695] Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p22(chr8:17592647-17859657) copy number gain Abnormal esophagus morphology [RCV000416853] Chr8:17592647..17859657 [GRCh37]
Chr8:8p22		 likely benign
GRCh37/hg19 8p22(chr8:17623587-18133683)x3 copy number gain See cases [RCV000510199] Chr8:17623587..18133683 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3 copy number gain See cases [RCV000510447] Chr8:11935023..18814062 [GRCh37]
Chr8:8p23.1-22		 likely pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22(chr8:17174343-17523646)x3 copy number gain not provided [RCV000747443] Chr8:17174343..17523646 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17450020-17578652)x3 copy number gain not provided [RCV000747444] Chr8:17450020..17578652 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17516564-17537332)x1 copy number loss not provided [RCV000747445] Chr8:17516564..17537332 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17518957-17537332)x1 copy number loss not provided [RCV000747446] Chr8:17518957..17537332 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17580652-17581700)x0 copy number loss not provided [RCV000747447] Chr8:17580652..17581700 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17580699-17581700)x1 copy number loss not provided [RCV000747448] Chr8:17580699..17581700 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17616191-17674988)x3 copy number gain not provided [RCV000747449] Chr8:17616191..17674988 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17630019-17645044)x1 copy number loss not provided [RCV000747450] Chr8:17630019..17645044 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_001363059.2(MTUS1):c.1724A>G (p.His575Arg) single nucleotide variant not provided [RCV000954940] Chr8:17754084 [GRCh38]
Chr8:17611593 [GRCh37]
Chr8:8p22		 benign
NM_001363059.2(MTUS1):c.223C>A (p.Gln75Lys) single nucleotide variant not provided [RCV000965067] Chr8:17755585 [GRCh38]
Chr8:17613094 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17652402-17836331)x1 copy number loss not provided [RCV001006082] Chr8:17652402..17836331 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.2624-9G>A single nucleotide variant not provided [RCV000959022] Chr8:17684551 [GRCh38]
Chr8:17542060 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17474031-17883039)x1 copy number loss not provided [RCV000849488] Chr8:17474031..17883039 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22(chr8:17575940-18443131)x3 copy number gain not provided [RCV000848233] Chr8:17575940..18443131 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22(chr8:17457722-17520324)x3 copy number gain not provided [RCV000849772] Chr8:17457722..17520324 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22(chr8:17487884-17883260)x1 copy number loss not provided [RCV000848845] Chr8:17487884..17883260 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p22(chr8:17465054-17864004)x3 copy number gain not provided [RCV000846652] Chr8:17465054..17864004 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p22(chr8:17657220-17942959)x3 copy number gain not provided [RCV001006083] Chr8:17657220..17942959 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.972A>T (p.Ser324=) single nucleotide variant not provided [RCV000880620] Chr8:17754836 [GRCh38]
Chr8:17612345 [GRCh37]
Chr8:8p22		 benign
NM_001363059.2(MTUS1):c.1253T>G (p.Met418Arg) single nucleotide variant not provided [RCV000956564] Chr8:17754555 [GRCh38]
Chr8:17612064 [GRCh37]
Chr8:8p22		 benign
NM_001363059.2(MTUS1):c.2996A>G (p.Glu999Gly) single nucleotide variant not provided [RCV000957603] Chr8:17655975 [GRCh38]
Chr8:17513484 [GRCh37]
Chr8:8p22		 benign
GRCh37/hg19 8p22(chr8:17652372-17732164)x1 copy number loss not provided [RCV002473626] Chr8:17652372..17732164 [GRCh37]
Chr8:8p22		 uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p22-21.3(chr8:15935542-19321304) copy number gain not specified [RCV002053754] Chr8:15935542..19321304 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(20112692_?)dup duplication Hereditary spastic paraplegia 53 [RCV003120735] Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3		 uncertain significance
NC_000008.10:g.(?_16850399)_(17885171_?)dup duplication not provided [RCV003119958] Chr8:16850399..17885171 [GRCh37]
Chr8:8p22		 uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 copy number loss not provided [RCV002472557] Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22		 pathogenic
NM_001363059.2(MTUS1):c.3068T>C (p.Ile1023Thr) single nucleotide variant Inborn genetic diseases [RCV002969403] Chr8:17655903 [GRCh38]
Chr8:17513412 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.2771A>G (p.Gln924Arg) single nucleotide variant Inborn genetic diseases [RCV002907234] Chr8:17684395 [GRCh38]
Chr8:17541904 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.769G>C (p.Val257Leu) single nucleotide variant Inborn genetic diseases [RCV002728990] Chr8:17755039 [GRCh38]
Chr8:17612548 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3359G>C (p.Arg1120Thr) single nucleotide variant Inborn genetic diseases [RCV002729074] Chr8:17653211 [GRCh38]
Chr8:17510720 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.2484A>T (p.Lys828Asn) single nucleotide variant Inborn genetic diseases [RCV002859867] Chr8:17715867 [GRCh38]
Chr8:17573376 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.647C>T (p.Thr216Met) single nucleotide variant Inborn genetic diseases [RCV002759965] Chr8:17755161 [GRCh38]
Chr8:17612670 [GRCh37]
Chr8:8p22		 likely benign
NM_001363059.2(MTUS1):c.2707C>T (p.Leu903Phe) single nucleotide variant Inborn genetic diseases [RCV002980263] Chr8:17684459 [GRCh38]
Chr8:17541968 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.877A>G (p.Thr293Ala) single nucleotide variant Inborn genetic diseases [RCV003001443] Chr8:17754931 [GRCh38]
Chr8:17612440 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.1435T>A (p.Leu479Ile) single nucleotide variant Inborn genetic diseases [RCV002698421] Chr8:17754373 [GRCh38]
Chr8:17611882 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3248C>T (p.Ser1083Leu) single nucleotide variant Inborn genetic diseases [RCV002743444] Chr8:17653465 [GRCh38]
Chr8:17510974 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3781T>C (p.Ser1261Pro) single nucleotide variant Inborn genetic diseases [RCV002892948] Chr8:17645958 [GRCh38]
Chr8:17503467 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.80A>G (p.His27Arg) single nucleotide variant Inborn genetic diseases [RCV003004612] Chr8:17755728 [GRCh38]
Chr8:17613237 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3355A>G (p.Lys1119Glu) single nucleotide variant Inborn genetic diseases [RCV002874197] Chr8:17653215 [GRCh38]
Chr8:17510724 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3643A>G (p.Lys1215Glu) single nucleotide variant Inborn genetic diseases [RCV002930372] Chr8:17646096 [GRCh38]
Chr8:17503605 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.1078A>G (p.Ser360Gly) single nucleotide variant Inborn genetic diseases [RCV003006841] Chr8:17754730 [GRCh38]
Chr8:17612239 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.745G>A (p.Val249Met) single nucleotide variant Inborn genetic diseases [RCV002718360] Chr8:17755063 [GRCh38]
Chr8:17612572 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.2990A>G (p.Gln997Arg) single nucleotide variant Inborn genetic diseases [RCV002964325] Chr8:17655981 [GRCh38]
Chr8:17513490 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3115A>C (p.Asn1039His) single nucleotide variant Inborn genetic diseases [RCV002680570] Chr8:17654660 [GRCh38]
Chr8:17512169 [GRCh37]
Chr8:8p22		 uncertain significance
NM_001363059.2(MTUS1):c.3784T>C (p.Phe1262Leu) single nucleotide variant Inborn genetic diseases [RCV002656291] Chr8:17645955 [GRCh38]
Chr8:17503464 [GRCh37]
Chr8:8p22		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoMicroarray//Northern blotFunctional MTI (Weak)16331254

Predicted Target Of
Summary Value
Count of predictions:12539
Count of miRNA genes:1377
Interacting mature miRNAs:1829
Transcripts:ENST00000262102, ENST00000297488, ENST00000381861, ENST00000381862, ENST00000381869, ENST00000400046, ENST00000517413, ENST00000517721, ENST00000517818, ENST00000518138, ENST00000518713, ENST00000518755, ENST00000518792, ENST00000518889, ENST00000518891, ENST00000518975, ENST00000519066, ENST00000519263, ENST00000520196, ENST00000521635, ENST00000521772, ENST00000521882, ENST00000522149, ENST00000522757, ENST00000523183, ENST00000523471, ENST00000523718, ENST00000524044, ENST00000524371, ENST00000544260
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.

Markers in Region
SHGC-57581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,503,271 - 17,503,435UniSTSGRCh37
Build 36817,547,551 - 17,547,715RGDNCBI36
Celera816,468,927 - 16,469,091RGD
Cytogenetic Map8p22UniSTS
HuRef816,047,756 - 16,047,920UniSTS
SHGC-170025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,601,001 - 17,601,320UniSTSGRCh37
Build 36817,645,281 - 17,645,600RGDNCBI36
Celera816,566,625 - 16,566,944RGD
Cytogenetic Map8p22UniSTS
HuRef816,144,987 - 16,145,306UniSTS
TNG Radiation Hybrid Map89471.0UniSTS
SHGC-52401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,502,640 - 17,502,759UniSTSGRCh37
Build 36817,546,920 - 17,547,039RGDNCBI36
Celera816,468,296 - 16,468,415RGD
Cytogenetic Map8p22UniSTS
HuRef816,047,125 - 16,047,244UniSTS
GeneMap99-G3 RH Map8916.0UniSTS
WI-14143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,523,634 - 17,523,784UniSTSGRCh37
Build 36817,567,914 - 17,568,064RGDNCBI36
Celera816,489,302 - 16,489,452RGD
Cytogenetic Map8p22UniSTS
HuRef816,067,618 - 16,067,768UniSTS
GeneMap99-GB4 RH Map868.7UniSTS
Whitehead-RH Map869.3UniSTS
PMC310830P25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,638,406 - 17,638,493UniSTSGRCh37
Build 36817,682,686 - 17,682,773RGDNCBI36
Celera816,604,027 - 16,604,114RGD
Cytogenetic Map8p22UniSTS
HuRef816,182,396 - 16,182,483UniSTS
G17214  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera816,503,894 - 16,504,035RGD
Cytogenetic Map8p22UniSTS
RH12837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,501,486 - 17,501,610UniSTSGRCh37
Build 36817,545,766 - 17,545,890RGDNCBI36
Celera816,467,146 - 16,467,270RGD
Cytogenetic Map8p22UniSTS
HuRef816,045,975 - 16,046,099UniSTS
GeneMap99-GB4 RH Map868.05UniSTS
NCBI RH Map8244.3UniSTS
SHGC-53007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,509,089 - 17,509,328UniSTSGRCh37
Build 36817,553,369 - 17,553,608RGDNCBI36
Celera816,474,746 - 16,474,985RGD
Cytogenetic Map8p22UniSTS
HuRef816,053,575 - 16,053,814UniSTS
A008L44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,525,001 - 17,525,166UniSTSGRCh37
Build 36817,569,281 - 17,569,446RGDNCBI36
Celera816,490,669 - 16,490,834RGD
Cytogenetic Map8p22UniSTS
HuRef816,068,985 - 16,069,150UniSTS
GeneMap99-GB4 RH Map865.81UniSTS
D8S1412E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,501,488 - 17,501,588UniSTSGRCh37
Build 36817,545,768 - 17,545,868RGDNCBI36
Celera816,467,148 - 16,467,248RGD
Cytogenetic Map8p22UniSTS
HuRef816,045,977 - 16,046,077UniSTS
GeneMap99-GB4 RH Map867.29UniSTS
STS-R55192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37817,529,474 - 17,529,640UniSTSGRCh37
Build 36817,573,754 - 17,573,920RGDNCBI36
Celera816,495,143 - 16,495,309RGD
Cytogenetic Map8p22UniSTS
HuRef816,073,458 - 16,073,624UniSTS
GeneMap99-GB4 RH Map871.52UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2289 1982 1531 490 269 332 4062 2000 2871 234 994 1460 164 1190 2753 4
Low 137 333 192 132 504 133 286 182 848 182 451 137 10 1 14 35 1
Below cutoff 10 674 2 2 989 7 7 10 2 14 15 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA368734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF121259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF293357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF394227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW984317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX210061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX210064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY363099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG719490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV571752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA075758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA113649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA214747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA339588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA743734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB221458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ458440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ458441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ472826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ472827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262102   ⟹   ENSP00000262102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,804 - 17,800,668 (-)Ensembl
RefSeq Acc Id: ENST00000297488   ⟹   ENSP00000297488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,799 - 17,697,670 (-)Ensembl
RefSeq Acc Id: ENST00000381861   ⟹   ENSP00000371285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,804 - 17,722,221 (-)Ensembl
RefSeq Acc Id: ENST00000381869   ⟹   ENSP00000371293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,795 - 17,800,917 (-)Ensembl
RefSeq Acc Id: ENST00000517413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,799 - 17,676,414 (-)Ensembl
RefSeq Acc Id: ENST00000517721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,684,475 - 17,724,010 (-)Ensembl
RefSeq Acc Id: ENST00000517818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,656,019 - 17,692,217 (-)Ensembl
RefSeq Acc Id: ENST00000518138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,684,354 - 17,734,247 (-)Ensembl
RefSeq Acc Id: ENST00000518713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,649,880 - 17,692,226 (-)Ensembl
RefSeq Acc Id: ENST00000518755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,755,438 - 17,780,962 (-)Ensembl
RefSeq Acc Id: ENST00000518792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,645,976 - 17,651,764 (-)Ensembl
RefSeq Acc Id: ENST00000518889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,645,869 - 17,647,278 (-)Ensembl
RefSeq Acc Id: ENST00000518891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,755,621 - 17,770,581 (-)Ensembl
RefSeq Acc Id: ENST00000518975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,708,767 - 17,721,989 (-)Ensembl
RefSeq Acc Id: ENST00000519066   ⟹   ENSP00000489015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,674,735 - 17,676,494 (-)Ensembl
RefSeq Acc Id: ENST00000519263   ⟹   ENSP00000430167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,645,662 - 17,755,981 (-)Ensembl
RefSeq Acc Id: ENST00000520196   ⟹   ENSP00000431016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,799 - 17,755,011 (-)Ensembl
RefSeq Acc Id: ENST00000521635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,674,837 - 17,692,226 (-)Ensembl
RefSeq Acc Id: ENST00000521772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,654,564 - 17,676,210 (-)Ensembl
RefSeq Acc Id: ENST00000521882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,684,335 - 17,722,575 (-)Ensembl
RefSeq Acc Id: ENST00000522149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,675,217 - 17,716,590 (-)Ensembl
RefSeq Acc Id: ENST00000522757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,654,561 - 17,675,264 (-)Ensembl
RefSeq Acc Id: ENST00000523183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,674,668 - 17,676,142 (-)Ensembl
RefSeq Acc Id: ENST00000523471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,647,004 - 17,655,025 (-)Ensembl
RefSeq Acc Id: ENST00000523718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,723,241 - 17,800,917 (-)Ensembl
RefSeq Acc Id: ENST00000524044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,656,026 - 17,722,639 (-)Ensembl
RefSeq Acc Id: ENST00000524371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,655,871 - 17,693,338 (-)Ensembl
RefSeq Acc Id: ENST00000544260   ⟹   ENSP00000445738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,795 - 17,722,575 (-)Ensembl
RefSeq Acc Id: ENST00000634613   ⟹   ENSP00000489288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,645,926 - 17,676,493 (-)Ensembl
RefSeq Acc Id: ENST00000693296   ⟹   ENSP00000509719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl817,643,802 - 17,801,094 (-)Ensembl
RefSeq Acc Id: NM_001001924   ⟹   NP_001001924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,800,917 (-)NCBI
GRCh37817,501,303 - 17,658,729 (-)NCBI
Build 36817,545,583 - 17,702,666 (-)NCBI Archive
HuRef816,045,792 - 16,202,703 (-)ENTREZGENE
CHM1_1817,702,752 - 17,859,884 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001001925   ⟹   NP_001001925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,800,917 (-)NCBI
GRCh37817,501,303 - 17,658,729 (-)NCBI
Build 36817,545,583 - 17,702,666 (-)NCBI Archive
HuRef816,045,792 - 16,202,703 (-)ENTREZGENE
CHM1_1817,702,752 - 17,859,884 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,502 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001001931   ⟹   NP_001001931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,721,989 (-)NCBI
GRCh37817,501,303 - 17,658,729 (-)NCBI
Build 36817,545,583 - 17,624,010 (-)NCBI Archive
HuRef816,045,792 - 16,202,703 (-)ENTREZGENE
CHM1_1817,702,752 - 17,781,194 (-)NCBI
T2T-CHM13v2.0817,910,954 - 17,989,142 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166393   ⟹   NP_001159865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,722,575 (-)NCBI
GRCh37817,501,303 - 17,658,729 (-)NCBI
HuRef816,045,792 - 16,202,703 (-)ENTREZGENE
CHM1_1817,702,752 - 17,781,548 (-)NCBI
T2T-CHM13v2.0817,910,954 - 17,989,728 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330470   ⟹   NP_001317399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,676,492 (-)NCBI
T2T-CHM13v2.0817,910,954 - 17,943,656 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363057   ⟹   NP_001349986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363058   ⟹   NP_001349987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363059   ⟹   NP_001349988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363060   ⟹   NP_001349989
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363061   ⟹   NP_001349990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,521 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,069,106 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363062   ⟹   NP_001349991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020749   ⟹   NP_065800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,697,670 (-)NCBI
GRCh37817,501,303 - 17,658,729 (-)NCBI
Build 36817,545,583 - 17,599,449 (-)NCBI Archive
HuRef816,045,792 - 16,202,703 (-)ENTREZGENE
CHM1_1817,702,752 - 17,756,700 (-)NCBI
T2T-CHM13v2.0817,910,954 - 17,964,814 (-)NCBI
Sequence:
RefSeq Acc Id: NR_156437
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,643,802 - 17,801,094 (-)NCBI
T2T-CHM13v2.0817,910,954 - 18,068,679 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001001924 (Get FASTA)   NCBI Sequence Viewer  
  NP_001001925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001001931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349988 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349991 (Get FASTA)   NCBI Sequence Viewer  
  NP_065800 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG33674 (Get FASTA)   NCBI Sequence Viewer  
  AAH07328 (Get FASTA)   NCBI Sequence Viewer  
  AAH33842 (Get FASTA)   NCBI Sequence Viewer  
  AAI36321 (Get FASTA)   NCBI Sequence Viewer  
  AAI42972 (Get FASTA)   NCBI Sequence Viewer  
  AAL37035 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24172 (Get FASTA)   NCBI Sequence Viewer  
  BAA86602 (Get FASTA)   NCBI Sequence Viewer  
  BAB14894 (Get FASTA)   NCBI Sequence Viewer  
  BAF82439 (Get FASTA)   NCBI Sequence Viewer  
  BAG37243 (Get FASTA)   NCBI Sequence Viewer  
  BAG54161 (Get FASTA)   NCBI Sequence Viewer  
  BAG57964 (Get FASTA)   NCBI Sequence Viewer  
  BAG65008 (Get FASTA)   NCBI Sequence Viewer  
  CAB50791 (Get FASTA)   NCBI Sequence Viewer  
  CAC60396 (Get FASTA)   NCBI Sequence Viewer  
  CAC60397 (Get FASTA)   NCBI Sequence Viewer  
  CAH56128 (Get FASTA)   NCBI Sequence Viewer  
  EAW63804 (Get FASTA)   NCBI Sequence Viewer  
  EAW63805 (Get FASTA)   NCBI Sequence Viewer  
  EAW63806 (Get FASTA)   NCBI Sequence Viewer  
  EAW63807 (Get FASTA)   NCBI Sequence Viewer  
  EAW63808 (Get FASTA)   NCBI Sequence Viewer  
  EAW63809 (Get FASTA)   NCBI Sequence Viewer  
  EAW63810 (Get FASTA)   NCBI Sequence Viewer  
  Q9ULD2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001001925   ⟸   NM_001001925
- Peptide Label: isoform 2
- UniProtKB: Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001001924   ⟸   NM_001001924
- Peptide Label: isoform 1
- UniProtKB: Q9H7T2 (UniProtKB/Swiss-Prot),   Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159865   ⟸   NM_001166393
- Peptide Label: isoform 6
- UniProtKB: Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001001931   ⟸   NM_001001931
- Peptide Label: isoform 4
- UniProtKB: Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_065800   ⟸   NM_020749
- Peptide Label: isoform 5
- UniProtKB: Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317399   ⟸   NM_001330470
- Peptide Label: isoform 7
- UniProtKB: Q9ULD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001349990   ⟸   NM_001363061
- Peptide Label: isoform 1
- UniProtKB: Q9H7T2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001349991   ⟸   NM_001363062
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001349988   ⟸   NM_001363059
- Peptide Label: isoform 1
- UniProtKB: Q9H7T2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001349987   ⟸   NM_001363058
- Peptide Label: isoform 1
- UniProtKB: Q9H7T2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001349989   ⟸   NM_001363060
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001349986   ⟸   NM_001363057
- Peptide Label: isoform 8
RefSeq Acc Id: ENSP00000489288   ⟸   ENST00000634613
RefSeq Acc Id: ENSP00000489015   ⟸   ENST00000519066
RefSeq Acc Id: ENSP00000445738   ⟸   ENST00000544260
RefSeq Acc Id: ENSP00000430167   ⟸   ENST00000519263
RefSeq Acc Id: ENSP00000297488   ⟸   ENST00000297488
RefSeq Acc Id: ENSP00000431016   ⟸   ENST00000520196
RefSeq Acc Id: ENSP00000262102   ⟸   ENST00000262102
RefSeq Acc Id: ENSP00000371285   ⟸   ENST00000381861
RefSeq Acc Id: ENSP00000371293   ⟸   ENST00000381869
RefSeq Acc Id: ENSP00000509719   ⟸   ENST00000693296

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULD2-F1-model_v2 AlphaFold Q9ULD2 1-1270 view protein structure

Promoters
RGD ID:6806885
Promoter ID:HG_KWN:60809
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003WXS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,599,174 - 17,599,674 (-)MPROMDB
RGD ID:7212705
Promoter ID:EPDNEW_H12098
Type:initiation region
Name:MTUS1_1
Description:microtubule associated scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12100  EPDNEW_H12099  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,697,670 - 17,697,730EPDNEW
RGD ID:6806648
Promoter ID:HG_KWN:60813
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000381862,   UC003WXV.1,   UC003WXW.1,   UC010LSZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36817,702,921 - 17,703,422 (-)MPROMDB
RGD ID:7212709
Promoter ID:EPDNEW_H12099
Type:multiple initiation site
Name:MTUS1_3
Description:microtubule associated scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12098  EPDNEW_H12100  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,768,573 - 17,768,633EPDNEW
RGD ID:7212707
Promoter ID:EPDNEW_H12100
Type:initiation region
Name:MTUS1_2
Description:microtubule associated scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12098  EPDNEW_H12099  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38817,801,094 - 17,801,154EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29789 AgrOrtholog
COSMIC MTUS1 COSMIC
Ensembl Genes ENSG00000129422 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262102 ENTREZGENE
  ENSP00000262102.6 UniProtKB/Swiss-Prot
  ENSP00000297488 ENTREZGENE
  ENSP00000297488.6 UniProtKB/Swiss-Prot
  ENSP00000371285 ENTREZGENE
  ENSP00000371285.3 UniProtKB/Swiss-Prot
  ENSP00000371293 ENTREZGENE
  ENSP00000371293.3 UniProtKB/Swiss-Prot
  ENSP00000430167 ENTREZGENE
  ENSP00000430167.1 UniProtKB/Swiss-Prot
  ENSP00000431016.1 UniProtKB/TrEMBL
  ENSP00000445738 ENTREZGENE
  ENSP00000445738.1 UniProtKB/Swiss-Prot
  ENSP00000489015.1 UniProtKB/TrEMBL
  ENSP00000489288 ENTREZGENE
  ENSP00000489288.1 UniProtKB/Swiss-Prot
  ENSP00000509719 ENTREZGENE
  ENSP00000509719.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262102 ENTREZGENE
  ENST00000262102.10 UniProtKB/Swiss-Prot
  ENST00000297488 ENTREZGENE
  ENST00000297488.10 UniProtKB/Swiss-Prot
  ENST00000381861 ENTREZGENE
  ENST00000381861.7 UniProtKB/Swiss-Prot
  ENST00000381869 ENTREZGENE
  ENST00000381869.5 UniProtKB/Swiss-Prot
  ENST00000519066.5 UniProtKB/TrEMBL
  ENST00000519263 ENTREZGENE
  ENST00000519263.5 UniProtKB/Swiss-Prot
  ENST00000520196 ENTREZGENE
  ENST00000520196.5 UniProtKB/TrEMBL
  ENST00000544260 ENTREZGENE
  ENST00000544260.3 UniProtKB/Swiss-Prot
  ENST00000634613 ENTREZGENE
  ENST00000634613.1 UniProtKB/Swiss-Prot
  ENST00000693296 ENTREZGENE
  ENST00000693296.1 UniProtKB/Swiss-Prot
GTEx ENSG00000129422 GTEx
HGNC ID HGNC:29789 ENTREZGENE
Human Proteome Map MTUS1 Human Proteome Map
KEGG Report hsa:57509 UniProtKB/Swiss-Prot
NCBI Gene 57509 ENTREZGENE
OMIM 609589 OMIM
PANTHER PTHR24200:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOUCAN, ISOFORM A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB MTUS1 RGD, PharmGKB
UniProt A0A0U1RQI2_HUMAN UniProtKB/TrEMBL
  H0YC63_HUMAN UniProtKB/TrEMBL
  MTUS1_HUMAN UniProtKB/Swiss-Prot
  Q9H7T2 ENTREZGENE
  Q9ULD2 ENTREZGENE
UniProt Secondary A8K135 UniProtKB/Swiss-Prot
  B2RBJ6 UniProtKB/Swiss-Prot
  B3KWJ9 UniProtKB/Swiss-Prot
  B4DH03 UniProtKB/Swiss-Prot
  B9EGA1 UniProtKB/Swiss-Prot
  D3DSP8 UniProtKB/Swiss-Prot
  Q63HJ6 UniProtKB/Swiss-Prot
  Q659F4 UniProtKB/Swiss-Prot
  Q6PK49 UniProtKB/Swiss-Prot
  Q6URW7 UniProtKB/Swiss-Prot
  Q8N4M6 UniProtKB/Swiss-Prot
  Q8WTT9 UniProtKB/Swiss-Prot
  Q9H7T2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-02-21 MTUS1  microtubule associated scaffold protein 1  MTUS1  microtubule associated tumor suppressor 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 MTUS1  microtubule associated tumor suppressor 1  MTUS1  mitochondrial tumor suppressor 1  Symbol and/or name change 5135510 APPROVED