POMT1 (protein O-mannosyltransferase 1) - Rat Genome Database

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Gene: POMT1 (protein O-mannosyltransferase 1) Homo sapiens
Analyze
Symbol: POMT1
Name: protein O-mannosyltransferase 1
RGD ID: 1348575
HGNC Page HGNC
Description: Exhibits mannosyltransferase activity. Involved in protein O-linked mannosylation. Localizes to endoplasmic reticulum membrane. Implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dolichyl-phosphate-mannose--protein mannosyltransferase 1; dolichyl-phosphate-mannose-protein mannosyltransferase; FLJ37239; LGMD2K; LGMDR11; MDDGA1; MDDGB1; MDDGC1; protein O-mannosyl-transferase 1; protein-O-mannosyltransferase 1; RT; testis tissue sperm-binding protein Li 57p; truncated O-mannosyl-transferase 1 variant SV3DEL
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
GRCh38.p13 Ensembl9131,502,789 - 131,523,806 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl9131,502,902 - 131,523,806 (+)EnsemblGRCh38hg38GRCh38
GRCh389131,502,902 - 131,523,803 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379134,378,305 - 134,399,186 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,368,110 - 133,389,014 (+)NCBINCBI36hg18NCBI36
Build 349131,407,865 - 131,428,746NCBI
Celera9104,918,461 - 104,939,373 (+)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9103,872,837 - 103,893,810 (+)NCBIHuRef
CHM1_19134,527,759 - 134,548,591 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal aldolase level  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of the tongue muscle  (IAGP)
Abnormality of the voice  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Achilles tendon contracture  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agyria  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Bifid uvula  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Calf muscle hypertrophy  (IAGP)
Calf muscle pseudohypertrophy  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Coloboma  (IAGP)
Congenital contracture  (IAGP)
Congenital muscular dystrophy  (IAGP)
Corneal opacity  (IAGP)
Cough  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased thalamic volume  (IAGP)
Delayed speech and language development  (IAGP)
Developmental cataract  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty walking  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated fourth ventricle  (IAGP)
Dysgenesis of the cerebellar vermis  (IAGP)
Easy fatigability  (IAGP)
EEG abnormality  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Enlarged cisterna magna  (IAGP)
Excessive daytime somnolence  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of skeletal muscles  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Frequent falls  (IAGP)
Fusion of the cerebellar hemispheres  (IAGP)
Gait disturbance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Gray matter heterotopia  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Heterogeneous  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hypertonia  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Inability to walk  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Kyphoscoliosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Limb-girdle muscle atrophy  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Lissencephaly  (IAGP)
Loss of ability to walk  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Macrogyria  (IAGP)
Megalocornea  (IAGP)
Meningocele  (IAGP)
Meningoencephalocele  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Neurological speech impairment  (IAGP)
Occipital encephalocele  (IAGP)
Olivopontocerebellar hypoplasia  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Peters anomaly  (IAGP)
Pigmentary retinopathy  (IAGP)
Polymicrogyria  (IAGP)
Poor gross motor coordination  (IAGP)
Poor speech  (IAGP)
Posterior fossa cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Protruding ear  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal dysplasia  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Retinal atrophy  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensory neuropathy  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Specific learning disability  (IAGP)
Spinal deformities  (IAGP)
Spinal rigidity  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Thigh hypertrophy  (IAGP)
Toe walking  (IAGP)
Triceps weakness  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Type II lissencephaly  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Waddling gait  (IAGP)
References

Additional References at PubMed
PMID:10366449   PMID:12477932   PMID:12757935   PMID:12925572   PMID:14699049   PMID:14702039   PMID:15037715   PMID:15342556   PMID:15489334   PMID:15522202   PMID:15792865   PMID:16303743  
PMID:16344560   PMID:16698797   PMID:16887026   PMID:17079174   PMID:17869517   PMID:17878207   PMID:18513969   PMID:18647264   PMID:19299310   PMID:19519795   PMID:19639522   PMID:19880378  
PMID:20301468   PMID:20301552   PMID:20301582   PMID:20634891   PMID:20816175   PMID:21782786   PMID:21873635   PMID:24491487   PMID:26186194   PMID:26245304   PMID:26760575   PMID:27193224  
PMID:27358400   PMID:28157257   PMID:28512129   PMID:28514442   PMID:28611215   PMID:28986522   PMID:29419866   PMID:30454682   PMID:31091453   PMID:32296183  


Genomics

Comparative Map Data
POMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9131,502,789 - 131,523,806 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl9131,502,902 - 131,523,806 (+)EnsemblGRCh38hg38GRCh38
GRCh389131,502,902 - 131,523,803 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379134,378,305 - 134,399,186 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,368,110 - 133,389,014 (+)NCBINCBI36hg18NCBI36
Build 349131,407,865 - 131,428,746NCBI
Celera9104,918,461 - 104,939,373 (+)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9103,872,837 - 103,893,810 (+)NCBIHuRef
CHM1_19134,527,759 - 134,548,591 (+)NCBICHM1_1
Pomt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,126,652 - 32,145,017 (+)NCBIGRCm39mm39
GRCm39 Ensembl232,126,602 - 32,145,017 (+)Ensembl
GRCm38232,236,590 - 32,255,005 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,236,590 - 32,255,005 (+)EnsemblGRCm38mm10GRCm38
MGSCv37232,092,203 - 32,110,525 (+)NCBIGRCm37mm9NCBIm37
MGSCv36232,058,692 - 32,077,014 (+)NCBImm8
Celera231,941,009 - 31,959,335 (+)NCBICelera
Cytogenetic Map2BNCBI
Pomt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2315,520,717 - 15,538,579 (+)NCBI
Rnor_6.0 Ensembl311,254,026 - 11,271,872 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0311,253,424 - 11,271,873 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0316,602,808 - 16,620,746 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,348,786 - 11,366,633 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1311,245,184 - 11,263,006 (+)NCBI
Celera310,265,600 - 10,283,445 (+)NCBICelera
Cytogenetic Map3p12NCBI
Pomt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555131,189,169 - 1,203,933 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555131,189,169 - 1,203,933 (+)NCBIChiLan1.0ChiLan1.0
POMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19131,265,750 - 131,285,881 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9131,265,750 - 131,285,881 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09102,625,290 - 102,646,066 (+)NCBIMhudiblu_PPA_v0panPan3
POMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1952,615,349 - 52,631,538 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl952,615,655 - 52,630,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha951,882,359 - 51,899,815 (-)NCBI
ROS_Cfam_1.0953,517,596 - 53,535,056 (-)NCBI
UMICH_Zoey_3.1952,297,027 - 52,312,897 (-)NCBI
UNSW_CanFamBas_1.0952,614,407 - 52,631,871 (-)NCBI
UU_Cfam_GSD_1.0952,708,808 - 52,726,275 (-)NCBI
Pomt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947198,481,216 - 198,499,348 (+)NCBI
SpeTri2.0NW_00493648718,249,472 - 18,267,875 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1271,432,210 - 271,451,080 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11271,432,196 - 271,448,584 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21305,440,591 - 305,456,740 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1126,620,179 - 6,639,051 (-)NCBI
ChlSab1.1 Ensembl126,618,312 - 6,639,024 (-)Ensembl
Pomt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247604,494,701 - 4,508,735 (-)NCBI

Position Markers
SHGC-81277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,385,072 - 134,385,385UniSTSGRCh37
Build 369133,374,893 - 133,375,206RGDNCBI36
Celera9104,925,250 - 104,925,563RGD
Cytogenetic Map9q34.1UniSTS
HuRef9103,879,625 - 103,879,938UniSTS
TNG Radiation Hybrid Map951300.0UniSTS
SHGC-132019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,208 - 134,399,480UniSTSGRCh37
Build 369133,389,029 - 133,389,301RGDNCBI36
Celera9104,939,388 - 104,939,660RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,825 - 103,894,097UniSTS
TNG Radiation Hybrid Map951304.0UniSTS
A004N19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,398,997 - 134,399,184UniSTSGRCh37
Build 369133,388,818 - 133,389,005RGDNCBI36
Celera9104,939,177 - 104,939,364RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,614 - 103,893,801UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
D9S64  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,380,110 - 134,380,213UniSTSGRCh37
Build 369133,369,931 - 133,370,034RGDNCBI36
Celera9104,920,282 - 104,920,391RGD
Cytogenetic Map9q34.1UniSTS
HuRef9103,874,658 - 103,874,767UniSTS
D9S2067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,398,971 - 134,399,109UniSTSGRCh37
Build 369133,388,792 - 133,388,930RGDNCBI36
Celera9104,939,151 - 104,939,289RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,588 - 103,893,726UniSTS
Stanford-G3 RH Map94918.0UniSTS
NCBI RH Map91213.0UniSTS
GeneMap99-G3 RH Map94816.0UniSTS
NIB247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,210 - 134,399,319UniSTSGRCh37
Build 369133,389,031 - 133,389,140RGDNCBI36
Celera9104,939,390 - 104,939,499RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,827 - 103,893,936UniSTS
Whitehead-RH Map9485.2UniSTS
A004H35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,206 - 134,399,327UniSTSGRCh37
Build 369133,389,027 - 133,389,148RGDNCBI36
Celera9104,939,386 - 104,939,507RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,823 - 103,893,944UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
D9S1959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,213 - 134,399,389UniSTSGRCh37
Build 369133,389,034 - 133,389,210RGDNCBI36
Celera9104,939,393 - 104,939,569RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,830 - 103,894,006UniSTS
Stanford-G3 RH Map94925.0UniSTS
NCBI RH Map91210.8UniSTS
GeneMap99-G3 RH Map94823.0UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5320
Count of miRNA genes:1022
Interacting mature miRNAs:1246
Transcripts:ENST00000341012, ENST00000354713, ENST00000372220, ENST00000372228, ENST00000402686, ENST00000404875, ENST00000415075, ENST00000418774, ENST00000419118, ENST00000423007, ENST00000430619, ENST00000441334, ENST00000448212, ENST00000462375, ENST00000467848, ENST00000483472, ENST00000485278, ENST00000494883, ENST00000541219
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2165 1407 1326 259 888 111 3783 1511 3071 279 1386 1528 161 1 806 2406 4 2
Low 274 1579 400 365 1058 354 574 686 663 140 74 85 14 398 382 2
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF095136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF984005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP360727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB154785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX098451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC028903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC030233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341012   ⟹   ENSP00000343034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,918 - 131,523,806 (+)Ensembl
RefSeq Acc Id: ENST00000372220   ⟹   ENSP00000361294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,518,219 - 131,523,806 (+)Ensembl
RefSeq Acc Id: ENST00000372228   ⟹   ENSP00000361302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,918 - 131,523,799 (+)Ensembl
RefSeq Acc Id: ENST00000402686   ⟹   ENSP00000385797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,918 - 131,523,799 (+)Ensembl
RefSeq Acc Id: ENST00000404875   ⟹   ENSP00000384531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,902 - 131,523,806 (+)Ensembl
RefSeq Acc Id: ENST00000415075   ⟹   ENSP00000405149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,971 - 131,512,127 (+)Ensembl
RefSeq Acc Id: ENST00000418774   ⟹   ENSP00000390737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,959 - 131,507,514 (+)Ensembl
RefSeq Acc Id: ENST00000423007   ⟹   ENSP00000404119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,902 - 131,523,806 (+)Ensembl
RefSeq Acc Id: ENST00000430619   ⟹   ENSP00000402083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,009 - 131,510,415 (+)Ensembl
RefSeq Acc Id: ENST00000441334   ⟹   ENSP00000395060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,918 - 131,513,331 (+)Ensembl
RefSeq Acc Id: ENST00000448212   ⟹   ENSP00000403736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,978 - 131,510,311 (+)Ensembl
RefSeq Acc Id: ENST00000462375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,508,926 - 131,513,331 (+)Ensembl
RefSeq Acc Id: ENST00000467848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,518,768 - 131,521,404 (+)Ensembl
RefSeq Acc Id: ENST00000483472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,984 - 131,506,773 (+)Ensembl
RefSeq Acc Id: ENST00000485278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,510,500 - 131,523,798 (+)Ensembl
RefSeq Acc Id: ENST00000494883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,521,105 - 131,522,533 (+)Ensembl
RefSeq Acc Id: ENST00000676640   ⟹   ENSP00000503281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,906 - 131,523,799 (+)Ensembl
RefSeq Acc Id: ENST00000676803   ⟹   ENSP00000503093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,944 - 131,523,594 (+)Ensembl
RefSeq Acc Id: ENST00000676835   ⟹   ENSP00000502911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,955 - 131,523,755 (+)Ensembl
RefSeq Acc Id: ENST00000676915   ⟹   ENSP00000504628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,944 - 131,509,996 (+)Ensembl
RefSeq Acc Id: ENST00000677028   ⟹   ENSP00000503896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,996 - 131,509,951 (+)Ensembl
RefSeq Acc Id: ENST00000677029   ⟹   ENSP00000502936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,920 - 131,523,363 (+)Ensembl
RefSeq Acc Id: ENST00000677099   ⟹   ENSP00000504553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,012 - 131,523,495 (+)Ensembl
RefSeq Acc Id: ENST00000677167   ⟹   ENSP00000503307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,316 - 131,508,959 (+)Ensembl
RefSeq Acc Id: ENST00000677216   ⟹   ENSP00000503772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,898 - 131,523,442 (+)Ensembl
RefSeq Acc Id: ENST00000677221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,518,057 - 131,523,021 (+)Ensembl
RefSeq Acc Id: ENST00000677293   ⟹   ENSP00000504278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,945 - 131,515,463 (+)Ensembl
RefSeq Acc Id: ENST00000677295   ⟹   ENSP00000504346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,191 - 131,523,564 (+)Ensembl
RefSeq Acc Id: ENST00000677444   ⟹   ENSP00000503364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,508,941 - 131,523,741 (+)Ensembl
RefSeq Acc Id: ENST00000677586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,945 - 131,523,146 (+)Ensembl
RefSeq Acc Id: ENST00000677626   ⟹   ENSP00000503552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,948 - 131,523,638 (+)Ensembl
RefSeq Acc Id: ENST00000677677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,284 - 131,520,769 (+)Ensembl
RefSeq Acc Id: ENST00000677729   ⟹   ENSP00000503581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,920 - 131,510,247 (+)Ensembl
RefSeq Acc Id: ENST00000677853   ⟹   ENSP00000503488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,930 - 131,523,729 (+)Ensembl
RefSeq Acc Id: ENST00000677944   ⟹   ENSP00000504710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,508,965 - 131,518,461 (+)Ensembl
RefSeq Acc Id: ENST00000677983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,517,993 - 131,518,796 (+)Ensembl
RefSeq Acc Id: ENST00000678202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,518,000 - 131,522,197 (+)Ensembl
RefSeq Acc Id: ENST00000678264   ⟹   ENSP00000503157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,967 - 131,523,106 (+)Ensembl
RefSeq Acc Id: ENST00000678303   ⟹   ENSP00000503696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,948 - 131,523,435 (+)Ensembl
RefSeq Acc Id: ENST00000678366   ⟹   ENSP00000504353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,006 - 131,523,491 (+)Ensembl
RefSeq Acc Id: ENST00000678546   ⟹   ENSP00000503062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,955 - 131,523,741 (+)Ensembl
RefSeq Acc Id: ENST00000678548   ⟹   ENSP00000503934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,936 - 131,523,569 (+)Ensembl
RefSeq Acc Id: ENST00000678626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,246 - 131,523,594 (+)Ensembl
RefSeq Acc Id: ENST00000678693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,509,521 - 131,510,090 (+)Ensembl
RefSeq Acc Id: ENST00000678707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,948 - 131,511,407 (+)Ensembl
RefSeq Acc Id: ENST00000678733   ⟹   ENSP00000503285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,510,387 - 131,520,147 (+)Ensembl
RefSeq Acc Id: ENST00000678739   ⟹   ENSP00000503806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,191 - 131,523,564 (+)Ensembl
RefSeq Acc Id: ENST00000678768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,885 - 131,504,640 (+)Ensembl
RefSeq Acc Id: ENST00000678785   ⟹   ENSP00000504231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,076 - 131,508,979 (+)Ensembl
RefSeq Acc Id: ENST00000678795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,511,968 - 131,518,799 (+)Ensembl
RefSeq Acc Id: ENST00000678833   ⟹   ENSP00000503893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,930 - 131,523,798 (+)Ensembl
RefSeq Acc Id: ENST00000678942   ⟹   ENSP00000504690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,510,386 - 131,518,737 (+)Ensembl
RefSeq Acc Id: ENST00000679023   ⟹   ENSP00000503718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,944 - 131,523,799 (+)Ensembl
RefSeq Acc Id: ENST00000679073   ⟹   ENSP00000504356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,510,183 - 131,513,321 (+)Ensembl
RefSeq Acc Id: ENST00000679076   ⟹   ENSP00000504492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,507,377 - 131,523,632 (+)Ensembl
RefSeq Acc Id: ENST00000679111   ⟹   ENSP00000504257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,502,944 - 131,523,793 (+)Ensembl
RefSeq Acc Id: ENST00000679189   ⟹   ENSP00000503356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,256 - 131,523,261 (+)Ensembl
RefSeq Acc Id: ENST00000679221   ⟹   ENSP00000504422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,503,064 - 131,507,511 (+)Ensembl
RefSeq Acc Id: NM_001077365   ⟹   NP_001070833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
GRCh379134,378,282 - 134,399,193 (+)NCBI
Build 369133,368,110 - 133,389,014 (+)NCBI Archive
HuRef9103,872,837 - 103,893,810 (+)ENTREZGENE
CHM1_19134,527,759 - 134,548,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001077366   ⟹   NP_001070834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
GRCh379134,378,282 - 134,399,193 (+)NCBI
Build 369133,368,110 - 133,389,014 (+)NCBI Archive
HuRef9103,872,837 - 103,893,810 (+)ENTREZGENE
CHM1_19134,527,759 - 134,548,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001136113   ⟹   NP_001129585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
GRCh379134,378,282 - 134,399,193 (+)NCBI
HuRef9103,872,837 - 103,893,810 (+)ENTREZGENE
CHM1_19134,527,759 - 134,548,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001136114   ⟹   NP_001129586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
GRCh379134,378,282 - 134,399,193 (+)NCBI
HuRef9103,872,837 - 103,893,810 (+)ENTREZGENE
CHM1_19134,527,759 - 134,548,591 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353193   ⟹   NP_001340122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353194   ⟹   NP_001340123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353195   ⟹   NP_001340124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353196   ⟹   NP_001340125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353197   ⟹   NP_001340126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353198   ⟹   NP_001340127
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353199   ⟹   NP_001340128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353200   ⟹   NP_001340129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374689   ⟹   NP_001361618
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_001374690   ⟹   NP_001361619
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_001374691   ⟹   NP_001361620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_001374692   ⟹   NP_001361621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_001374693   ⟹   NP_001361622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_001374695   ⟹   NP_001361624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
RefSeq Acc Id: NM_007171   ⟹   NP_009102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
GRCh379134,378,282 - 134,399,193 (+)NCBI
Build 369133,368,110 - 133,389,014 (+)NCBI Archive
HuRef9103,872,837 - 103,893,810 (+)ENTREZGENE
CHM1_19134,527,759 - 134,548,591 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148391
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148392
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148393
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148394
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148395
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148396
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148397
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148398
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148399
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148400
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,918 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272162   ⟹   XP_005272219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,936 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716932   ⟹   XP_006716995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,503,017 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518140   ⟹   XP_011516442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,902 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518141   ⟹   XP_011516443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,902 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518142   ⟹   XP_011516444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,948 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518143   ⟹   XP_011516445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,902 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011518145   ⟹   XP_011516447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,975 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014205   ⟹   XP_016869694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,503,220 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447380   ⟹   XP_024303148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,925 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447381   ⟹   XP_024303149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,944 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447382   ⟹   XP_024303150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,934 - 131,523,800 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746160
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,934 - 131,523,803 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746162
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,934 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746164
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,902 - 131,523,799 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001746166
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,503,220 - 131,523,803 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001070833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340123 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340126 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340127 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340128 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340129 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361618 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361619 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361620 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361624 (Get FASTA)   NCBI Sequence Viewer  
  NP_009102 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272219 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716995 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516442 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516443 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516444 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516445 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516447 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869694 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303148 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303149 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303150 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD41245 (Get FASTA)   NCBI Sequence Viewer  
  AAD41246 (Get FASTA)   NCBI Sequence Viewer  
  AAH22877 (Get FASTA)   NCBI Sequence Viewer  
  AAH65268 (Get FASTA)   NCBI Sequence Viewer  
  AEE61277 (Get FASTA)   NCBI Sequence Viewer  
  APQ46216 (Get FASTA)   NCBI Sequence Viewer  
  BAA91190 (Get FASTA)   NCBI Sequence Viewer  
  BAC11269 (Get FASTA)   NCBI Sequence Viewer  
  BAD92667 (Get FASTA)   NCBI Sequence Viewer  
  BAG52022 (Get FASTA)   NCBI Sequence Viewer  
  BAG57011 (Get FASTA)   NCBI Sequence Viewer  
  BAG58392 (Get FASTA)   NCBI Sequence Viewer  
  BAG58462 (Get FASTA)   NCBI Sequence Viewer  
  BAG61567 (Get FASTA)   NCBI Sequence Viewer  
  BAG62126 (Get FASTA)   NCBI Sequence Viewer  
  BAG62223 (Get FASTA)   NCBI Sequence Viewer  
  BAG63000 (Get FASTA)   NCBI Sequence Viewer  
  BAG64337 (Get FASTA)   NCBI Sequence Viewer  
  BAX07485 (Get FASTA)   NCBI Sequence Viewer  
  CAF86827 (Get FASTA)   NCBI Sequence Viewer  
  EAW87974 (Get FASTA)   NCBI Sequence Viewer  
  EAW87975 (Get FASTA)   NCBI Sequence Viewer  
  EAW87976 (Get FASTA)   NCBI Sequence Viewer  
  EAW87977 (Get FASTA)   NCBI Sequence Viewer  
  EAW87978 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y6A1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001129585   ⟸   NM_001136113
- Peptide Label: isoform b
- UniProtKB: Q9Y6A1 (UniProtKB/Swiss-Prot),   A0A140VKE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009102   ⟸   NM_007171
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001070833   ⟸   NM_001077365
- Peptide Label: isoform b
- UniProtKB: Q9Y6A1 (UniProtKB/Swiss-Prot),   A0A140VKE0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070834   ⟸   NM_001077366
- Peptide Label: isoform c
- UniProtKB: Q9Y6A1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129586   ⟸   NM_001136114
- Peptide Label: isoform d
- UniProtKB: Q9Y6A1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272219   ⟸   XM_005272162
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006716995   ⟸   XM_006716932
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011516442   ⟸   XM_011518140
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011516443   ⟸   XM_011518141
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516445   ⟸   XM_011518143
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011516444   ⟸   XM_011518142
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011516447   ⟸   XM_011518145
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869694   ⟸   XM_017014205
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001340127   ⟸   NM_001353198
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001340122   ⟸   NM_001353193
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001340123   ⟸   NM_001353194
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001340125   ⟸   NM_001353196
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001340124   ⟸   NM_001353195
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001340126   ⟸   NM_001353197
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001340128   ⟸   NM_001353199
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001340129   ⟸   NM_001353200
- Peptide Label: isoform h
- Sequence:
RefSeq Acc Id: XP_024303148   ⟸   XM_024447380
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303150   ⟸   XM_024447382
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024303149   ⟸   XM_024447381
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001361620   ⟸   NM_001374691
- Peptide Label: isoform d
RefSeq Acc Id: NP_001361619   ⟸   NM_001374690
- Peptide Label: isoform i
RefSeq Acc Id: NP_001361621   ⟸   NM_001374692
- Peptide Label: isoform d
RefSeq Acc Id: NP_001361624   ⟸   NM_001374695
- Peptide Label: isoform k
RefSeq Acc Id: NP_001361618   ⟸   NM_001374689
- Peptide Label: isoform l
RefSeq Acc Id: NP_001361622   ⟸   NM_001374693
- Peptide Label: isoform j
RefSeq Acc Id: ENSP00000404119   ⟸   ENST00000423007
RefSeq Acc Id: ENSP00000361294   ⟸   ENST00000372220
RefSeq Acc Id: ENSP00000361302   ⟸   ENST00000372228
RefSeq Acc Id: ENSP00000405149   ⟸   ENST00000415075
RefSeq Acc Id: ENSP00000385797   ⟸   ENST00000402686
RefSeq Acc Id: ENSP00000395060   ⟸   ENST00000441334
RefSeq Acc Id: ENSP00000384531   ⟸   ENST00000404875
RefSeq Acc Id: ENSP00000390737   ⟸   ENST00000418774
RefSeq Acc Id: ENSP00000402083   ⟸   ENST00000430619
RefSeq Acc Id: ENSP00000343034   ⟸   ENST00000341012
RefSeq Acc Id: ENSP00000403736   ⟸   ENST00000448212
RefSeq Acc Id: ENSP00000504628   ⟸   ENST00000676915
RefSeq Acc Id: ENSP00000502911   ⟸   ENST00000676835
RefSeq Acc Id: ENSP00000503093   ⟸   ENST00000676803
RefSeq Acc Id: ENSP00000503281   ⟸   ENST00000676640
RefSeq Acc Id: ENSP00000503307   ⟸   ENST00000677167
RefSeq Acc Id: ENSP00000502936   ⟸   ENST00000677029
RefSeq Acc Id: ENSP00000503896   ⟸   ENST00000677028
RefSeq Acc Id: ENSP00000504553   ⟸   ENST00000677099
RefSeq Acc Id: ENSP00000503364   ⟸   ENST00000677444
RefSeq Acc Id: ENSP00000504346   ⟸   ENST00000677295
RefSeq Acc Id: ENSP00000504278   ⟸   ENST00000677293
RefSeq Acc Id: ENSP00000503772   ⟸   ENST00000677216
RefSeq Acc Id: ENSP00000504710   ⟸   ENST00000677944
RefSeq Acc Id: ENSP00000503488   ⟸   ENST00000677853
RefSeq Acc Id: ENSP00000503581   ⟸   ENST00000677729
RefSeq Acc Id: ENSP00000503552   ⟸   ENST00000677626
RefSeq Acc Id: ENSP00000504353   ⟸   ENST00000678366
RefSeq Acc Id: ENSP00000503696   ⟸   ENST00000678303
RefSeq Acc Id: ENSP00000503157   ⟸   ENST00000678264
RefSeq Acc Id: ENSP00000503893   ⟸   ENST00000678833
RefSeq Acc Id: ENSP00000504231   ⟸   ENST00000678785
RefSeq Acc Id: ENSP00000503285   ⟸   ENST00000678733
RefSeq Acc Id: ENSP00000503806   ⟸   ENST00000678739
RefSeq Acc Id: ENSP00000503062   ⟸   ENST00000678546
RefSeq Acc Id: ENSP00000503934   ⟸   ENST00000678548
RefSeq Acc Id: ENSP00000504690   ⟸   ENST00000678942
RefSeq Acc Id: ENSP00000504422   ⟸   ENST00000679221
RefSeq Acc Id: ENSP00000504257   ⟸   ENST00000679111
RefSeq Acc Id: ENSP00000503356   ⟸   ENST00000679189
RefSeq Acc Id: ENSP00000503718   ⟸   ENST00000679023
RefSeq Acc Id: ENSP00000504356   ⟸   ENST00000679073
RefSeq Acc Id: ENSP00000504492   ⟸   ENST00000679076
Protein Domains
MIR   PMT

Promoters
RGD ID:7216445
Promoter ID:EPDNEW_H13965
Type:initiation region
Name:POMT1_1
Description:protein O-mannosyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,502,944 - 131,503,004EPDNEW
RGD ID:6807529
Promoter ID:HG_KWN:65360
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:ENST00000372221,   ENST00000404875,   NM_001077365,   NM_001077366,   NM_001136114,   NM_007171,   OTTHUMT00000054741,   OTTHUMT00000054742,   OTTHUMT00000054743,   OTTHUMT00000054744,   OTTHUMT00000054745,   OTTHUMT00000054746,   UC004CAX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,367,871 - 133,368,371 (+)MPROMDB
RGD ID:6807526
Promoter ID:HG_KWN:65361
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:ENST00000402686
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,369,239 - 133,369,739 (+)MPROMDB
RGD ID:6807976
Promoter ID:HG_KWN:65365
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054750
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,386,336 - 133,386,836 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001077365.2(POMT1):c.332C>T (p.Ala111Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000548757] Chr9:131507419 [GRCh38]
Chr9:134382806 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.2132C>T (p.Ala711Val) single nucleotide variant not specified [RCV000516313] Chr9:131523060 [GRCh38]
Chr9:134398447 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.1484C>T (p.Ala495Val) single nucleotide variant not specified [RCV000516425] Chr9:131518955 [GRCh38]
Chr9:134394342 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) duplication Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003396] Chr9:131522970..131522971 [GRCh38]
Chr9:134398357..134398358 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) deletion Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003397] Chr9:131515444..131515446 [GRCh38]
Chr9:134390831..134390833 [GRCh37]
Chr9:9q34.13
pathogenic
POMT1, ARG541TER variation MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003404] Chr9:9q34.1 pathogenic
POMT1, GLN590HIS variation MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003405] Chr9:9q34.1 pathogenic
NM_001077365.2(POMT1):c.1175+1G>A single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003407] Chr9:131513332 [GRCh38]
Chr9:134388719 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) microsatellite Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 [RCV000587199]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003408]|not provided [RCV000150016] Chr9:131523038..131523039 [GRCh38]
Chr9:134398425..134398426 [GRCh37]
Chr9:9q34.13
pathogenic
POMT1, 1-BP INS, 2111G insertion Walker-Warburg congenital muscular dystrophy [RCV000003409] Chr9:9q34.1 pathogenic
NM_001077365.2(POMT1):c.418_420del (p.Met140del) deletion Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003410] Chr9:131507503..131507505 [GRCh38]
Chr9:134382890..134382892 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000546035]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003411]|POMT1-Related Disorders [RCV000778874]|not provided [RCV000081487] Chr9:131523025..131523026 [GRCh38]
Chr9:134398412..134398413 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) deletion not provided [RCV000517413] Chr9:131509777..131509778 [GRCh38]
Chr9:134385164..134385165 [GRCh37]
Chr9:9q34.13
likely pathogenic
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000799994]|not provided [RCV000729516] Chr9:131515445..131515446 [GRCh38]
Chr9:134390832..134390833 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.592T>A (p.Ser198Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001300866]|not provided [RCV000727719] Chr9:131509795 [GRCh38]
Chr9:134385182 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.699+67G>A single nucleotide variant not provided [RCV000729095] Chr9:131510063 [GRCh38]
Chr9:134385450 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) single nucleotide variant not provided [RCV000728764] Chr9:131522989 [GRCh38]
Chr9:134398376 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.1193C>T (p.Pro398Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000545477] Chr9:131515443 [GRCh38]
Chr9:134390830 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.1448G>A (p.Ser483Asn) single nucleotide variant not provided [RCV000548190] Chr9:131518919 [GRCh38]
Chr9:134394306 [GRCh37]
Chr9:9q34.13
likely benign
NM_001077365.2(POMT1):c.781G>A (p.Val261Ile) single nucleotide variant not specified [RCV000518154] Chr9:131510341 [GRCh38]
Chr9:134385728 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.1047= (p.Asp349=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000542198]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000576810] Chr9:131512101 [GRCh38]
Chr9:134387488 [GRCh37]
Chr9:9q34.13
benign
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003394]|not provided [RCV001171882] Chr9:131506217 [GRCh38]
Chr9:134381604 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000003395] Chr9:131510401 [GRCh38]
Chr9:134385788 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003398] Chr9:131520175 [GRCh38]
Chr9:134395562 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 [RCV001264826]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000003399]|not provided [RCV000179928] Chr9:131509801 [GRCh38]
Chr9:134385188 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003400] Chr9:131506184 [GRCh38]
Chr9:134381571 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003401]|not provided [RCV000760355] Chr9:131518945 [GRCh38]
Chr9:134394332 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003402]|not provided [RCV000175324] Chr9:131521351 [GRCh38]
Chr9:134396738 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000694423]|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 [RCV000003406]|not provided [RCV000414180] Chr9:131522160 [GRCh38]
Chr9:134397547 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001077365.2(POMT1):c.430A>G (p.Asn144Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000032629] Chr9:131508913 [GRCh38]
Chr9:134384300 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1175C>T (p.Thr392Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000032630] Chr9:131513331 [GRCh38]
Chr9:134388718 [GRCh37]
Chr9:9q34.13
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 copy number loss See cases [RCV000052935] Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3 copy number gain See cases [RCV000053780] Chr9:131261516..131741175 [GRCh38]
Chr9:134136903..134616562 [GRCh37]
Chr9:133126724..133606383 [NCBI36]
Chr9:9q34.13
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_001077365.2(POMT1):c.639C>T (p.Leu213=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000926546] Chr9:131509936 [GRCh38]
Chr9:134385323 [GRCh37]
Chr9:133375144 [NCBI36]
Chr9:9q34.13
likely benign|not provided
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys) single nucleotide variant not provided [RCV000081475] Chr9:131511458 [GRCh38]
Chr9:134386845 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.1082+16G>A single nucleotide variant not specified [RCV000081476] Chr9:131512152 [GRCh38]
Chr9:134387539 [GRCh37]
Chr9:9q34.13
benign
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 [RCV000578428]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000686940]|not provided [RCV000081477] Chr9:131513243 [GRCh38]
Chr9:134388630 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.123-5dup duplication Congenital muscular dystrophy [RCV000150009]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000265747]|not specified [RCV000081478] Chr9:131506100..131506101 [GRCh38]
Chr9:134381487..134381488 [GRCh37]
Chr9:9q34.13
benign|likely benign|uncertain significance
NM_001077365.2(POMT1):c.1214_1215delinsTC (p.Glu405Val) indel not provided [RCV000174566] Chr9:131515464..131515465 [GRCh38]
Chr9:134390851..134390852 [GRCh37]
Chr9:9q34.13
likely pathogenic
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000391550]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000560291]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000576701]|not specified [RCV000081480] Chr9:131515483 [GRCh38]
Chr9:134390870 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) single nucleotide variant not provided [RCV000177268] Chr9:131506123 [GRCh38]
Chr9:134381510 [GRCh37]
Chr9:9q34.13
likely pathogenic|uncertain significance
NM_001077365.2(POMT1):c.1365+15C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000406427]|not provided [RCV000723552]|not specified [RCV000250460] Chr9:131518552 [GRCh38]
Chr9:134393939 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000302685]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000537255]|not specified [RCV000081483] Chr9:131518887 [GRCh38]
Chr9:134394274 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) single nucleotide variant Intellectual disability [RCV001252355]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000515174]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001085429]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001166758]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV001332898]|not provided [RCV000443667]|not specified [RCV000192982] Chr9:131519401 [GRCh38]
Chr9:134394788 [GRCh37]
Chr9:9q34.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.2003+13C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000282408]|not specified [RCV000081486] Chr9:131522237 [GRCh38]
Chr9:134397624 [GRCh37]
Chr9:9q34.13
benign
NM_007171.3(POMT1):c.2167dupG (p.Asp723Glyfs) duplication Congenital muscular dystrophy [RCV000150015]|not provided [RCV000081487] Chr9:131523029 [GRCh38]
Chr9:134398416 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000285946]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001087221]|not provided [RCV000712823]|not specified [RCV000253981] Chr9:131523043 [GRCh38]
Chr9:134398430 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000534194]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001169206]|not specified [RCV000081489] Chr9:131523065 [GRCh38]
Chr9:134398452 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) single nucleotide variant not provided [RCV000081490] Chr9:131507397 [GRCh38]
Chr9:134382784 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.452G>C (p.Arg151Thr) single nucleotide variant not provided [RCV000081491] Chr9:131508935 [GRCh38]
Chr9:134384322 [GRCh37]
Chr9:9q34.13
likely pathogenic|uncertain significance
NM_001077365.2(POMT1):c.699+52C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000326785]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000555657]|not provided [RCV000576730]|not specified [RCV000081492] Chr9:131510048 [GRCh38]
Chr9:134385435 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001077365.2(POMT1):c.699+53= single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000529405]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000576343]|not specified [RCV000081493] Chr9:131510049 [GRCh38]
Chr9:134385436 [GRCh37]
Chr9:9q34.13
benign
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter) single nucleotide variant not provided [RCV000081494] Chr9:131510287 [GRCh38]
Chr9:134385674 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000764803]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001341723]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV001328597]|not provided [RCV000081495] Chr9:131510312 [GRCh38]
Chr9:134385699 [GRCh37]
Chr9:9q34.13
uncertain significance
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000388392]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001079487]|not provided [RCV000712830]|not specified [RCV000081496] Chr9:131511372 [GRCh38]
Chr9:134386759 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000296590]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000576678]|not specified [RCV000081497] Chr9:131511394 [GRCh38]
Chr9:134386781 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001077365.2(POMT1):c.1125C>T (p.His375=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000281358]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001081388]|not provided [RCV000576492]|not specified [RCV000118029] Chr9:131513281 [GRCh38]
Chr9:134388668 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000298065]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000533631]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000576824]|not specified [RCV000118030] Chr9:131518447 [GRCh38]
Chr9:134393834 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001083096]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001166236]|not provided [RCV000576455]|not specified [RCV000118031] Chr9:131518950 [GRCh38]
Chr9:134394337 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000528768]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001166761]|not provided [RCV000712815]|not specified [RCV000118032] Chr9:131520187 [GRCh38]
Chr9:134395574 [GRCh37]
Chr9:9q34.13
benign
NM_001077365.2(POMT1):c.1826-6C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000292825]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001086685]|not provided [RCV000712819]|not specified [RCV000118033] Chr9:131522041 [GRCh38]
Chr9:134397428 [GRCh37]
Chr9:9q34.13
benign|likely benign|uncertain significance
NM_001077365.2(POMT1):c.1826-7C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001079178]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001168476]|not provided [RCV000712820]|not specified [RCV000118034] Chr9:131522040 [GRCh38]
Chr9:134397427 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000331368]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001085455]|not provided [RCV000712821]|not specified [RCV000118035] Chr9:131522077 [GRCh38]
Chr9:134397464 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001088136]|not provided [RCV000828432]|not specified [RCV000259157] Chr9:131523096 [GRCh38]
Chr9:134398483 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000358291]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001080506]|not provided [RCV000544741]|not specified [RCV000118037] Chr9:131504296 [GRCh38]
Chr9:134379683 [GRCh37]
Chr9:9q34.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001077365.2(POMT1):c.1657del (p.Leu553fs) deletion not provided [RCV000175198] Chr9:131520150 [GRCh38]
Chr9:134395537 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000648152]|not provided [RCV000175455] Chr9:131522113 [GRCh38]
Chr9:134397500 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000704810]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV001292652]|not provided [RCV000175325] Chr9:131521445 [GRCh38]
Chr9:134396832 [GRCh37]
Chr9:9q34.13
pathogenic
Single allele duplication Walker-Warburg congenital muscular dystrophy [RCV000176085] Chr9:134398416..134398417 [GRCh37] pathogenic
NM_001077365.2(POMT1):c.2004-1G>C single nucleotide variant not provided [RCV000176087] Chr9:131522931 [GRCh38]
Chr9:134398318 [GRCh37]
Chr9:9q34.13
pathogenic
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV000535678]|not provided [RCV000176088] Chr9:131523025 [GRCh38]
Chr9:134398412 [GRCh37]
Chr9:9q34.13
pathogenic|likely pathogenic|uncertain significance
NM_001077365.2(POMT1):c.123-6_123-5dup duplication Limb-Girdle Muscular Dystrophy, Recessive [RCV000327854]|not specified [RCV000177269] Chr9:131506100..131506101 [GRCh38]
Chr9:134381487..134381488 [GRCh37]
Chr9:9q34.13
benign|likely benign
NM_001077365.2(POMT1):c.1251C>A (p.Pro417=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 [RCV001348942] Chr9:131515501 [GRCh38]
Chr9:134390888 [GRCh37]
Chr9:9q34.13
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_007171.3(POMT1):c.123-7_123-6dupTT duplication not specified [RCV000153763] Chr9:131506107..131506108 [GRCh38]
Chr9:134381494..134381495 [GRCh37]
Chr9:9q34.13
benign
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)