DSE (dermatan sulfate epimerase) - Rat Genome Database
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Gene: DSE (dermatan sulfate epimerase) Homo sapiens
Analyze
Symbol: DSE
Name: dermatan sulfate epimerase
RGD ID: 1312897
HGNC Page HGNC
Description: Exhibits chondroitin-glucuronate 5-epimerase activity. Involved in dermatan sulfate biosynthetic process. Localizes to several cellular components, including Golgi apparatus; endoplasmic reticulum; and nucleoplasm. Implicated in Ehlers-Danlos syndrome musculocontractural type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chondroitin-glucuronate 5-epimerase; dermatan-sulfate epimerase; DS epimerase; DS-epi1; DSEP; DSEPI; EDSMC2; SART-2; SART2; squamous cell carcinoma antigen recognized by T-cells 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL353616.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6116,254,173 - 116,444,861 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6116,254,173 - 116,444,860 (+)EnsemblGRCh38hg38GRCh38
GRCh386116,254,171 - 116,444,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,601,231 - 116,762,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,707,976 - 116,866,135 (+)NCBINCBI36hg18NCBI36
Build 346116,798,881 - 116,866,133NCBI
Celera6117,344,314 - 117,502,508 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6114,181,450 - 114,339,311 (+)NCBIHuRef
CHM1_16116,839,208 - 117,023,097 (+)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
Abnormal heart valve morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality of mesentery morphology  (IAGP)
Adducted thumb  (IAGP)
Arachnodactyly  (IAGP)
Arthralgia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Astigmatism  (IAGP)
Atlantoaxial dislocation  (IAGP)
Atrophic scars  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Cerebral atrophy  (IAGP)
Cervical kyphosis  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Constipation  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Decreased muscle mass  (IAGP)
Decreased palmar creases  (IAGP)
Delayed gross motor development  (IAGP)
Dental crowding  (IAGP)
Disproportionate tall stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
External ear malformation  (IAGP)
Facial hypotonia  (IAGP)
Frontal bossing  (IAGP)
Functional abnormality of the bladder  (IAGP)
Generalized joint laxity  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hyperalgesia  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Inguinal hernia  (IAGP)
Kyphoscoliosis  (IAGP)
Large fontanelles  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrotia  (IAGP)
Malrotation of small bowel  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Nephrolithiasis  (IAGP)
Ocular hypertension  (IAGP)
Patent foramen ovale  (IAGP)
Pneumothorax  (IAGP)
Prominent nasolabial fold  (IAGP)
Protruding ear  (IAGP)
Recurrent joint dislocation  (IAGP)
Recurrent skin infections  (IAGP)
Redundant skin  (IAGP)
Retinal detachment  (IAGP)
Short nose  (IAGP)
Slender finger  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Ventriculomegaly  (IAGP)
References

Additional References at PubMed
PMID:10679095   PMID:11092984   PMID:11920522   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16505484   PMID:19004833   PMID:19188366   PMID:20929582  
PMID:21480325   PMID:21873635   PMID:21988832   PMID:22350411   PMID:22366580   PMID:23441919   PMID:23704329   PMID:24324885   PMID:25130324   PMID:25186462   PMID:25703627   PMID:25798074  
PMID:26186194   PMID:26373698   PMID:26900446   PMID:28514442   PMID:29507755   PMID:29676528   PMID:29864158   PMID:29976758   PMID:29987050   PMID:31972438  


Genomics

Comparative Map Data
DSE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6116,254,173 - 116,444,861 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl6116,254,173 - 116,444,860 (+)EnsemblGRCh38hg38GRCh38
GRCh386116,254,171 - 116,444,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376116,601,231 - 116,762,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366116,707,976 - 116,866,135 (+)NCBINCBI36hg18NCBI36
Build 346116,798,881 - 116,866,133NCBI
Celera6117,344,314 - 117,502,508 (+)NCBI
Cytogenetic Map6q22.1NCBI
HuRef6114,181,450 - 114,339,311 (+)NCBIHuRef
CHM1_16116,839,208 - 117,023,097 (+)NCBICHM1_1
Dse
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391034,027,385 - 34,084,267 (-)NCBIGRCm39mm39
GRCm381034,151,389 - 34,208,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1034,151,393 - 34,207,715 (-)EnsemblGRCm38mm10GRCm38
MGSCv371033,871,199 - 33,927,357 (-)NCBIGRCm37mm9NCBIm37
MGSCv361033,840,809 - 33,896,967 (-)NCBImm8
Celera1035,061,127 - 35,117,279 (-)NCBICelera
Cytogenetic Map10B1NCBI
Dse
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02027,703,738 - 27,784,982 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2027,703,732 - 27,782,586 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02029,528,495 - 29,603,741 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42037,568,889 - 37,647,574 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12037,588,364 - 37,668,729 (+)NCBI
Celera2027,571,821 - 27,650,168 (-)NCBICelera
Cytogenetic Map20q11NCBI
Dse
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955526348,673 - 393,328 (-)NCBIChiLan1.0ChiLan1.0
DSE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16118,347,786 - 118,386,201 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v06114,173,641 - 114,246,129 (+)NCBIMhudiblu_PPA_v0panPan3
DSE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl156,787,256 - 56,867,716 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1156,787,809 - 56,868,037 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dse
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936824957,783 - 995,465 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1181,996,894 - 82,063,847 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2192,246,856 - 92,286,951 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DSE
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11357,377,001 - 57,447,589 (-)NCBI
Dse
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248561,990,967 - 2,100,162 (-)NCBI

Position Markers
A008K19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,688,696 - 116,688,875UniSTSGRCh37
Build 366116,795,389 - 116,795,568RGDNCBI36
Celera6117,431,735 - 117,431,914RGD
Cytogenetic Map6q22UniSTS
GeneMap99-GB4 RH Map6490.51UniSTS
STS-N35795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,723,669 - 116,723,805UniSTSGRCh37
Build 366116,830,362 - 116,830,498RGDNCBI36
Celera6117,466,711 - 117,466,847RGD
Cytogenetic Map6q22UniSTS
HuRef6114,303,879 - 114,304,015UniSTS
GeneMap99-GB4 RH Map6490.41UniSTS
RH27490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,672,420 - 116,672,459UniSTSGRCh37
Build 366116,779,113 - 116,779,152RGDNCBI36
Celera6117,415,459 - 117,415,498RGD
Cytogenetic Map6q22UniSTS
HuRef6114,252,633 - 114,252,672UniSTS
SHGC-148523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,637,747 - 116,638,054UniSTSGRCh37
Build 366116,744,440 - 116,744,747RGDNCBI36
Celera6117,380,735 - 117,381,042RGD
Cytogenetic Map6q22UniSTS
HuRef6114,217,915 - 114,218,222UniSTS
TNG Radiation Hybrid Map655876.0UniSTS
STS-R33137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,688,631 - 116,688,787UniSTSGRCh37
Build 366116,795,324 - 116,795,480RGDNCBI36
Celera6117,431,670 - 117,431,826RGD
Cytogenetic Map6q22UniSTS
HuRef6114,268,843 - 114,268,999UniSTS
GeneMap99-GB4 RH Map6490.41UniSTS
RH70193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,679,732 - 116,679,935UniSTSGRCh37
Build 366116,786,425 - 116,786,628RGDNCBI36
Celera6117,422,771 - 117,422,974RGD
Cytogenetic Map6q22UniSTS
HuRef6114,259,945 - 114,260,148UniSTS
GeneMap99-GB4 RH Map6490.41UniSTS
SHGC-34640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,679,654 - 116,679,803UniSTSGRCh37
Build 366116,786,347 - 116,786,496RGDNCBI36
Celera6117,422,693 - 117,422,842RGD
Cytogenetic Map6q22UniSTS
HuRef6114,259,867 - 114,260,016UniSTS
TNG Radiation Hybrid Map655846.0UniSTS
Stanford-G3 RH Map64873.0UniSTS
GeneMap99-GB4 RH Map6490.51UniSTS
GeneMap99-GB4 RH Map6490.41UniSTS
Whitehead-RH Map6705.4UniSTS
NCBI RH Map61469.2UniSTS
GeneMap99-G3 RH Map65176.0UniSTS
D6S1448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,726,469 - 116,726,686UniSTSGRCh37
Build 366116,833,162 - 116,833,379RGDNCBI36
Celera6117,469,512 - 117,469,729RGD
Cytogenetic Map6q22UniSTS
HuRef6114,306,679 - 114,306,896UniSTS
Whitehead-YAC Contig Map6 UniSTS
SART2_3581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376116,758,620 - 116,759,538UniSTSGRCh37
Build 366116,865,313 - 116,866,231RGDNCBI36
Celera6117,501,686 - 117,502,604RGD
HuRef6114,338,489 - 114,339,407UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2944
Count of miRNA genes:918
Interacting mature miRNAs:1090
Transcripts:ENST00000331677, ENST00000359564, ENST00000430252, ENST00000452085, ENST00000537543, ENST00000540275, ENST00000606265, ENST00000606712, ENST00000607094
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.


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
High
Medium 428 1245 155 24 705 17 2707 237 715 101 586 742 18 1146 1567 2
Low 1973 1693 1556 584 1176 433 1613 1942 2970 313 861 858 154 58 1221 2
Below cutoff 32 48 15 14 68 14 35 14 42 5 9 10 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF098066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW292369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW630671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX095954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX110619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX404448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX489961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB282412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC333659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY012067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331677   ⟹   ENSP00000332151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,370,358 - 116,441,261 (+)Ensembl
RefSeq Acc Id: ENST00000359564   ⟹   ENSP00000352567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,371,050 - 116,438,243 (+)Ensembl
RefSeq Acc Id: ENST00000430252   ⟹   ENSP00000397597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,254,173 - 116,426,589 (+)Ensembl
RefSeq Acc Id: ENST00000448740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,254,207 - 116,256,743 (+)Ensembl
RefSeq Acc Id: ENST00000449314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,199 - 116,370,273 (+)Ensembl
RefSeq Acc Id: ENST00000452085   ⟹   ENSP00000404049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,120 - 116,444,860 (+)Ensembl
RefSeq Acc Id: ENST00000453463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,218 - 116,370,273 (+)Ensembl
RefSeq Acc Id: ENST00000606265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,412,465 - 116,426,726 (+)Ensembl
RefSeq Acc Id: ENST00000606712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,432,529 - 116,438,277 (+)Ensembl
RefSeq Acc Id: ENST00000607094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,279,143 - 116,401,272 (+)Ensembl
RefSeq Acc Id: ENST00000642434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,154 - 116,366,496 (+)Ensembl
RefSeq Acc Id: ENST00000643175   ⟹   ENSP00000495885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,108 - 116,399,937 (+)Ensembl
RefSeq Acc Id: ENST00000644252   ⟹   ENSP00000494147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,370,947 - 116,444,861 (+)Ensembl
RefSeq Acc Id: ENST00000645959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,280,071 - 116,370,216 (+)Ensembl
RefSeq Acc Id: ENST00000645988   ⟹   ENSP00000494202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,369,847 - 116,399,659 (+)Ensembl
RefSeq Acc Id: ENST00000646710   ⟹   ENSP00000495970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,370,987 - 116,438,139 (+)Ensembl
RefSeq Acc Id: ENST00000647046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,254,207 - 116,259,240 (+)Ensembl
RefSeq Acc Id: ENST00000647244   ⟹   ENSP00000495184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6116,254,177 - 116,435,765 (+)Ensembl
RefSeq Acc Id: NM_001080976   ⟹   NP_001074445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,444,861 (+)NCBI
GRCh376116,601,231 - 116,762,422 (+)NCBI
Build 366116,707,976 - 116,866,135 (+)NCBI Archive
Celera6117,344,314 - 117,502,508 (+)RGD
HuRef6114,181,450 - 114,339,311 (+)ENTREZGENE
CHM1_16116,865,134 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322937   ⟹   NP_001309866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,444,861 (+)NCBI
CHM1_16116,839,208 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322938   ⟹   NP_001309867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,444,861 (+)NCBI
CHM1_16116,839,208 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322939   ⟹   NP_001309868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,369,819 - 116,444,861 (+)NCBI
CHM1_16116,954,967 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322940   ⟹   NP_001309869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,444,861 (+)NCBI
CHM1_16116,839,208 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322941   ⟹   NP_001309870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,370,947 - 116,444,861 (+)NCBI
CHM1_16116,955,990 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322943   ⟹   NP_001309872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,370,947 - 116,444,861 (+)NCBI
CHM1_16116,955,990 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001322944   ⟹   NP_001309873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,370,947 - 116,444,861 (+)NCBI
CHM1_16116,955,990 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374520   ⟹   NP_001361449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,444,861 (+)NCBI
RefSeq Acc Id: NM_001374521   ⟹   NP_001361450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,444,861 (+)NCBI
RefSeq Acc Id: NM_001374522   ⟹   NP_001361451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,431,814 (+)NCBI
RefSeq Acc Id: NM_013352   ⟹   NP_037484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,370,947 - 116,444,861 (+)NCBI
GRCh376116,601,231 - 116,762,422 (+)NCBI
Build 366116,798,803 - 116,866,135 (+)NCBI Archive
Celera6117,344,314 - 117,502,508 (+)RGD
HuRef6114,181,450 - 114,339,311 (+)ENTREZGENE
CHM1_16116,955,990 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136520
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,254,171 - 116,256,745 (+)NCBI
CHM1_16116,839,208 - 116,841,801 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136521
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,370,273 (+)NCBI
CHM1_16116,865,134 - 116,955,394 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136522
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,370,273 (+)NCBI
CHM1_16116,865,134 - 116,955,394 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136523
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,370,273 (+)NCBI
CHM1_16116,865,134 - 116,955,394 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136524
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,444,861 (+)NCBI
CHM1_16116,865,134 - 117,023,097 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010795   ⟹   XP_016866284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,186 - 116,438,282 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010796   ⟹   XP_016866285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,395,147 - 116,438,283 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010797   ⟹   XP_016866286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,368,996 - 116,441,261 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001074445   ⟸   NM_001080976
- Peptide Label: isoform a precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_037484   ⟸   NM_013352
- Peptide Label: isoform a precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309866   ⟸   NM_001322937
- Peptide Label: isoform a precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot),   B7Z1T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309869   ⟸   NM_001322940
- Peptide Label: isoform c
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot),   B7Z1T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309867   ⟸   NM_001322938
- Peptide Label: isoform a precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot),   B7Z1T3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309868   ⟸   NM_001322939
- Peptide Label: isoform b
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot),   B7Z765 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309873   ⟸   NM_001322944
- Peptide Label: isoform d precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309872   ⟸   NM_001322943
- Peptide Label: isoform e precursor
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309870   ⟸   NM_001322941
- Peptide Label: isoform c
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016866284   ⟸   XM_017010795
- Peptide Label: isoform X1
- UniProtKB: B7Z765 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866286   ⟸   XM_017010797
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016866285   ⟸   XM_017010796
- Peptide Label: isoform X2
- UniProtKB: Q9UL01 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001361449   ⟸   NM_001374520
- Peptide Label: isoform f
RefSeq Acc Id: NP_001361450   ⟸   NM_001374521
- Peptide Label: isoform g
RefSeq Acc Id: NP_001361451   ⟸   NM_001374522
- Peptide Label: isoform h precursor
RefSeq Acc Id: ENSP00000352567   ⟸   ENST00000359564
RefSeq Acc Id: ENSP00000332151   ⟸   ENST00000331677
RefSeq Acc Id: ENSP00000404049   ⟸   ENST00000452085
RefSeq Acc Id: ENSP00000397597   ⟸   ENST00000430252
RefSeq Acc Id: ENSP00000495885   ⟸   ENST00000643175
RefSeq Acc Id: ENSP00000494147   ⟸   ENST00000644252
RefSeq Acc Id: ENSP00000494202   ⟸   ENST00000645988
RefSeq Acc Id: ENSP00000495970   ⟸   ENST00000646710
RefSeq Acc Id: ENSP00000495184   ⟸   ENST00000647244
Protein Domains
DUF4962

Promoters
RGD ID:7208949
Promoter ID:EPDNEW_H10220
Type:initiation region
Name:DSE_2
Description:dermatan sulfate epimerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10221  EPDNEW_H10223  EPDNEW_H10224  EPDNEW_H10222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,280,086 - 116,280,146EPDNEW
RGD ID:7208951
Promoter ID:EPDNEW_H10221
Type:initiation region
Name:DSE_1
Description:dermatan sulfate epimerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10220  EPDNEW_H10223  EPDNEW_H10224  EPDNEW_H10222  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,370,947 - 116,371,007EPDNEW
RGD ID:7208959
Promoter ID:EPDNEW_H10222
Type:initiation region
Name:DSE_4
Description:dermatan sulfate epimerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10220  EPDNEW_H10221  EPDNEW_H10223  EPDNEW_H10224  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,437,245 - 116,437,305EPDNEW
RGD ID:7208953
Promoter ID:EPDNEW_H10223
Type:initiation region
Name:DSE_5
Description:dermatan sulfate epimerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10220  EPDNEW_H10221  EPDNEW_H10224  EPDNEW_H10222  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,437,550 - 116,437,610EPDNEW
RGD ID:7208955
Promoter ID:EPDNEW_H10224
Type:multiple initiation site
Name:DSE_3
Description:dermatan sulfate epimerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10220  EPDNEW_H10221  EPDNEW_H10223  EPDNEW_H10222  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386116,439,751 - 116,439,811EPDNEW
RGD ID:6803770
Promoter ID:HG_KWN:54762
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562
Transcripts:NM_001080976,   OTTHUMT00000041941,   OTTHUMT00000041943,   UC003PWQ.1,   UC003PWR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 366116,706,919 - 116,707,419 (+)MPROMDB
RGD ID:6803951
Promoter ID:HG_KWN:54763
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000331677,   NM_013352
Position:
Human AssemblyChrPosition (strand)Source
Build 366116,797,746 - 116,798,887 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013352.4(DSE):c.2842T>C (p.Trp948Arg) single nucleotide variant not provided [RCV000521617] Chr6:116437310 [GRCh38]
Chr6:116758473 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000723332] Chr6:116436036 [GRCh38]
Chr6:116757199 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000074436] Chr6:116431086 [GRCh38]
Chr6:116752249 [GRCh37]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2
pathogenic
GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1 copy number loss See cases [RCV000052195] Chr6:115220054..117196371 [GRCh38]
Chr6:115541218..117517534 [GRCh37]
Chr6:115647911..117624227 [NCBI36]
Chr6:6q22.1
pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1 copy number loss See cases [RCV000052196] Chr6:115601230..128514324 [GRCh38]
Chr6:115922394..128835469 [GRCh37]
Chr6:116029087..128877162 [NCBI36]
Chr6:6q22.1-22.33
pathogenic
GRCh38/hg38 6q22.1(chr6:115890731-116427566)x3 copy number gain See cases [RCV000053368] Chr6:115890731..116427566 [GRCh38]
Chr6:116211895..116748729 [GRCh37]
Chr6:116318588..116855422 [NCBI36]
Chr6:6q22.1
uncertain significance
NM_001080976.1(DSE):c.1460C>T (p.Ser487Phe) single nucleotide variant Malignant melanoma [RCV000067082] Chr6:116435928 [GRCh38]
Chr6:116757091 [GRCh37]
Chr6:116863784 [NCBI36]
Chr6:6q22.1
not provided
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1 copy number loss See cases [RCV000135623] Chr6:115326962..117935240 [GRCh38]
Chr6:115648126..118256403 [GRCh37]
Chr6:115754819..118363096 [NCBI36]
Chr6:6q22.1-22.2
likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31
pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31
pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31
pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1
pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del deletion Delayed speech and language development [RCV000157076] Chr6:116735056..119687719 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
NM_013352.4(DSE):c.1897G>A (p.Val633Met) single nucleotide variant not provided [RCV000522074] Chr6:116436365 [GRCh38]
Chr6:116757528 [GRCh37]
Chr6:6q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3 copy number gain not provided [RCV000487884] Chr6:114318401..116957002 [GRCh37]
Chr6:6q21-22.1
uncertain significance
NM_013352.4(DSE):c.2168G>A (p.Arg723Gln) single nucleotide variant not provided [RCV000520971] Chr6:116436636 [GRCh38]
Chr6:116757799 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.2083G>A (p.Ala695Thr) single nucleotide variant not provided [RCV000520023] Chr6:116436551 [GRCh38]
Chr6:116757714 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1926= (p.Asn642=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000526647] Chr6:116436394 [GRCh38]
Chr6:116757557 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.1428G>A (p.Lys476=) single nucleotide variant not specified [RCV000606268] Chr6:116435896 [GRCh38]
Chr6:116757059 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.450G>A (p.Pro150=) single nucleotide variant not specified [RCV000601499] Chr6:116426607 [GRCh38]
Chr6:116747770 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.74_75delinsTT (p.Thr25Ile) indel not specified [RCV000605657] Chr6:116399324..116399325 [GRCh38]
Chr6:116720487..116720488 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) deletion Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000539080]|not specified [RCV000603318] Chr6:116437085..116437087 [GRCh38]
Chr6:116758248..116758250 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.844A>G (p.Ile282Val) single nucleotide variant not specified [RCV000441451] Chr6:116431127 [GRCh38]
Chr6:116752290 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.2661A>G (p.Thr887=) single nucleotide variant not specified [RCV000424133] Chr6:116437129 [GRCh38]
Chr6:116758292 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.711G>C (p.Leu237=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000960492]|not provided [RCV001172175]|not specified [RCV000442323] Chr6:116430994 [GRCh38]
Chr6:116752157 [GRCh37]
Chr6:6q22.1
benign|likely benign
NM_013352.4(DSE):c.910+20G>A single nucleotide variant not specified [RCV000419161] Chr6:116431213 [GRCh38]
Chr6:116752376 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2547C>T (p.Pro849=) single nucleotide variant not specified [RCV000442892] Chr6:116437015 [GRCh38]
Chr6:116758178 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) single nucleotide variant not specified [RCV000419462] Chr6:116399324 [GRCh38]
Chr6:116720487 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.101C>T (p.Pro34Leu) single nucleotide variant not specified [RCV000425605] Chr6:116399351 [GRCh38]
Chr6:116720514 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.495G>T (p.Leu165Phe) single nucleotide variant not provided [RCV000425933] Chr6:116426652 [GRCh38]
Chr6:116747815 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000946968]|not specified [RCV000426170] Chr6:116399303 [GRCh38]
Chr6:116720466 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.1004G>A (p.Arg335His) single nucleotide variant not provided [RCV000436673] Chr6:116433436 [GRCh38]
Chr6:116754599 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) single nucleotide variant not specified [RCV000426390] Chr6:116435610 [GRCh38]
Chr6:116756773 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.359T>C (p.Ile120Thr) single nucleotide variant not specified [RCV000443982] Chr6:116399609 [GRCh38]
Chr6:116720772 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_013352.4(DSE):c.1118+15G>A single nucleotide variant not specified [RCV000602992] Chr6:116433565 [GRCh38]
Chr6:116754728 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000515451] Chr6:116431082 [GRCh38]
Chr6:116752245 [GRCh37]
Chr6:6q22.1
pathogenic
NM_013352.4(DSE):c.516A>G (p.Thr172=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000912322]|not specified [RCV000601617] Chr6:116426673 [GRCh38]
Chr6:116747836 [GRCh37]
Chr6:6q22.1
likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss PARP Inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2
drug response
NM_013352.4(DSE):c.483T>G (p.Ala161=) single nucleotide variant not specified [RCV000609405] Chr6:116426640 [GRCh38]
Chr6:116747803 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1752G>C (p.Ala584=) single nucleotide variant not specified [RCV000612130] Chr6:116436220 [GRCh38]
Chr6:116757383 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.209G>A (p.Arg70His) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000957867]|not specified [RCV000600185] Chr6:116399459 [GRCh38]
Chr6:116720622 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.1271G>A (p.Gly424Glu) single nucleotide variant Inborn genetic diseases [RCV000624169] Chr6:116435739 [GRCh38]
Chr6:116756902 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.2001A>G (p.Pro667=) single nucleotide variant not specified [RCV000612523] Chr6:116436469 [GRCh38]
Chr6:116757632 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2005A>G (p.Ile669Val) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000651850] Chr6:116436473 [GRCh38]
Chr6:116757636 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.-59G>T single nucleotide variant not specified [RCV000601901] Chr6:116371116 [GRCh38]
Chr6:116692279 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.416+13C>T single nucleotide variant not specified [RCV000607355] Chr6:116399679 [GRCh38]
Chr6:116720842 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly) single nucleotide variant not specified [RCV000602303] Chr6:116436896 [GRCh38]
Chr6:116758059 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.114C>T (p.Ala38=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000973393]|not specified [RCV000607855] Chr6:116399364 [GRCh38]
Chr6:116720527 [GRCh37]
Chr6:6q22.1
benign|likely benign
NM_013352.4(DSE):c.240C>T (p.Ser80=) single nucleotide variant not specified [RCV000610571] Chr6:116399490 [GRCh38]
Chr6:116720653 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1221T>A (p.Pro407=) single nucleotide variant not provided [RCV000931372]|not specified [RCV000613605] Chr6:116435689 [GRCh38]
Chr6:116756852 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1827G>A (p.Gln609=) single nucleotide variant not specified [RCV000608325] Chr6:116436295 [GRCh38]
Chr6:116757458 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2601C>T (p.Tyr867=) single nucleotide variant not provided [RCV000908391]|not specified [RCV000608370] Chr6:116437069 [GRCh38]
Chr6:116758232 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2727T>C (p.Ile909=) single nucleotide variant not specified [RCV000611675] Chr6:116437195 [GRCh38]
Chr6:116758358 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.911-15A>G single nucleotide variant not specified [RCV000614644] Chr6:116433328 [GRCh38]
Chr6:116754491 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.136C>T (p.Leu46=) single nucleotide variant not specified [RCV000614868] Chr6:116399386 [GRCh38]
Chr6:116720549 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1841A>G (p.Tyr614Cys) single nucleotide variant not provided [RCV000512750] Chr6:116436309 [GRCh38]
Chr6:116757472 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1499G>A (p.Gly500Asp) single nucleotide variant Inborn genetic diseases [RCV000622470] Chr6:116435967 [GRCh38]
Chr6:116757130 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1613G>A (p.Arg538Gln) single nucleotide variant not provided [RCV000513294] Chr6:116436081 [GRCh38]
Chr6:116757244 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1
pathogenic
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1 copy number loss not provided [RCV000682711] Chr6:113261042..117842826 [GRCh37]
Chr6:6q21-22.1
pathogenic
GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3 copy number gain not provided [RCV000682713] Chr6:116656963..116903944 [GRCh37]
Chr6:6q22.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q22.1(chr6:116601285-117057982)x3 copy number gain not provided [RCV000745999] Chr6:116601285..117057982 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.730C>T (p.Leu244=) single nucleotide variant not provided [RCV000977559] Chr6:116431013 [GRCh38]
Chr6:116752176 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.35T>A (p.Phe12Tyr) single nucleotide variant not provided [RCV000762432] Chr6:116399285 [GRCh38]
Chr6:116720448 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.1927G>A (p.Gly643Arg) single nucleotide variant not provided [RCV000762433] Chr6:116436395 [GRCh38]
Chr6:116757558 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.885A>C (p.Ala295=) single nucleotide variant not provided [RCV000919858] Chr6:116431168 [GRCh38]
Chr6:116752331 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2058C>T (p.Phe686=) single nucleotide variant not provided [RCV000903898] Chr6:116436526 [GRCh38]
Chr6:116757689 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.753G>A (p.Thr251=) single nucleotide variant not provided [RCV000904651] Chr6:116431036 [GRCh38]
Chr6:116752199 [GRCh37]
Chr6:6q22.1
likely benign
NM_003309.4(TSPYL1):c.1269G>A (p.Arg423=) single nucleotide variant not provided [RCV000922417] Chr6:116278562 [GRCh38]
Chr6:116599725 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2635C>G (p.Arg879Gly) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001057996] Chr6:116437103 [GRCh38]
Chr6:116758266 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001078769]|not provided [RCV000827035] Chr6:116437119 [GRCh38]
Chr6:116758282 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000914958] Chr6:116436429 [GRCh38]
Chr6:116757592 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2334G>T (p.Leu778=) single nucleotide variant not provided [RCV000841720] Chr6:116436802 [GRCh38]
Chr6:116757965 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2370T>C (p.Ile790=) single nucleotide variant not provided [RCV000840191] Chr6:116436838 [GRCh38]
Chr6:116758001 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.-53-232T>A single nucleotide variant not provided [RCV000843633] Chr6:116398966 [GRCh38]
Chr6:116720129 [GRCh37]
Chr6:6q22.1
benign
NM_003309.4(TSPYL1):c.723_724TG[1] (p.Val242fs) microsatellite Sudden infant death with dysgenesis of the testes syndrome [RCV000993688] Chr6:116279105..116279106 [GRCh38]
Chr6:116600268..116600269 [GRCh37]
Chr6:6q22.1
pathogenic|likely pathogenic
NM_013352.4(DSE):c.355A>C (p.Asn119His) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000796415] Chr6:116399605 [GRCh38]
Chr6:116720768 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.216G>A (p.Thr72=) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV001087018]|not provided [RCV000827034] Chr6:116399466 [GRCh38]
Chr6:116720629 [GRCh37]
Chr6:6q22.1
benign|likely benign
NM_013352.4(DSE):c.1225G>A (p.Glu409Lys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000809603] Chr6:116435693 [GRCh38]
Chr6:116756856 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.-53-4G>A single nucleotide variant not provided [RCV000828043] Chr6:116399194 [GRCh38]
Chr6:116720357 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.417-15T>G single nucleotide variant not provided [RCV000841341] Chr6:116426559 [GRCh38]
Chr6:116747722 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2082C>T (p.Tyr694=) single nucleotide variant not provided [RCV000827289] Chr6:116436550 [GRCh38]
Chr6:116757713 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.911-50G>T single nucleotide variant not provided [RCV000837687] Chr6:116433293 [GRCh38]
Chr6:116754456 [GRCh37]
Chr6:6q22.1
benign
NM_003309.4(TSPYL1):c.354C>T (p.Asp118=) single nucleotide variant not provided [RCV000920000] Chr6:116279477 [GRCh38]
Chr6:116600640 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.693A>G (p.Leu231=) single nucleotide variant not provided [RCV000941120] Chr6:116430976 [GRCh38]
Chr6:116752139 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.911-229G>A single nucleotide variant not provided [RCV000838182] Chr6:116433114 [GRCh38]
Chr6:116754277 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.-53-89A>G single nucleotide variant not provided [RCV000838731] Chr6:116399109 [GRCh38]
Chr6:116720272 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.1284T>C (p.Tyr428=) single nucleotide variant not provided [RCV000842336] Chr6:116435752 [GRCh38]
Chr6:116756915 [GRCh37]
Chr6:6q22.1
likely benign
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31
pathogenic
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr) single nucleotide variant not provided [RCV000929701] Chr6:116435849 [GRCh38]
Chr6:116757012 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.831G>A (p.Gln277=) single nucleotide variant not provided [RCV000975395] Chr6:116431114 [GRCh38]
Chr6:116752277 [GRCh37]
Chr6:6q22.1
likely benign
NM_003309.4(TSPYL1):c.1135A>G (p.Thr379Ala) single nucleotide variant not provided [RCV000952908] Chr6:116278696 [GRCh38]
Chr6:116599859 [GRCh37]
Chr6:6q22.1
benign
NM_003309.4(TSPYL1):c.99C>T (p.Tyr33=) single nucleotide variant not provided [RCV000974414] Chr6:116279732 [GRCh38]
Chr6:116600895 [GRCh37]
Chr6:6q22.1
benign
NM_013352.4(DSE):c.2298C>T (p.Asn766=) single nucleotide variant not provided [RCV000917983] Chr6:116436766 [GRCh38]
Chr6:116757929 [GRCh37]
Chr6:6q22.1
likely benign
NM_003309.4(TSPYL1):c.256G>A (p.Val86Ile) single nucleotide variant not provided [RCV000908171] Chr6:116279575 [GRCh38]
Chr6:116600738 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2580A>G (p.Leu860=) single nucleotide variant not provided [RCV000902505] Chr6:116437048 [GRCh38]
Chr6:116758211 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.78C>T (p.Asp26=) single nucleotide variant not provided [RCV000909648] Chr6:116399328 [GRCh38]
Chr6:116720491 [GRCh37]
Chr6:6q22.1
likely benign
NM_003309.4(TSPYL1):c.1098C>A (p.Phe366Leu) single nucleotide variant not provided [RCV000891397] Chr6:116278733 [GRCh38]
Chr6:116599896 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.120C>T (p.Tyr40=) single nucleotide variant not provided [RCV000913771] Chr6:116399370 [GRCh38]
Chr6:116720533 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys) single nucleotide variant Ehlers-Danlos syndrome, musculocontractural type 2 [RCV000956406] Chr6:116436588 [GRCh38]
Chr6:116757751 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.558G>T (p.Gly186=) single nucleotide variant not provided [RCV000912627] Chr6:116426715 [GRCh38]
Chr6:116747878 [GRCh37]
Chr6:6q22.1
likely benign
NM_013352.4(DSE):c.330A>C (p.Ala110=) single nucleotide variant not provided [RCV000933725] Chr6:116399580 [GRCh38]
Chr6:116720743 [GRCh37]
Chr6:6q22.1
likely benign
NM_003309.4(TSPYL1):c.280A>G (p.Ile94Val) single nucleotide variant not provided [RCV000912394] Chr6:116279551 [GRCh38]
Chr6:116600714 [GRCh37]
Chr6:6q22.1
likely benign
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1
pathogenic
NM_013352.4(DSE):c.29G>A (p.Ser10Asn) single nucleotide variant not provided [RCV001172174] Chr6:116399279 [GRCh38]
Chr6:116720442 [GRCh37]
Chr6:6q22.1
uncertain significance
NM_013352.4(DSE):c.936G>A (p.Ala312=) single nucleotide variant not provided [RCV001200481] Chr6:116433368 [GRCh38]
Chr6:116754531 [GRCh37]
Chr6:6q22.1
likely benign
NC_000006.11:g.116734559_123648104del deletion Seizures [RCV001256147] Chr6:116734559..123648104 [GRCh37]
Chr6:6q22.1-22.31
pathogenic
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer) deletion Inborn genetic diseases [RCV001267004] Chr6:116399637 [GRCh38]
Chr6:116720800 [GRCh37]
Chr6:6q22.1
pathogenic
NM_003309.4(TSPYL1):c.236del (p.Gly79fs) deletion Sudden infant death with dysgenesis of the testes syndrome [RCV001270429] Chr6:116279595 [GRCh38]
Chr6:116600758 [GRCh37]
Chr6:6q22.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21144 AgrOrtholog
COSMIC DSE COSMIC
Ensembl Genes ENSG00000111817 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000332151 UniProtKB/Swiss-Prot
  ENSP00000352567 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000397597 UniProtKB/TrEMBL
  ENSP00000404049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494202 UniProtKB/TrEMBL
  ENSP00000495184 UniProtKB/TrEMBL
  ENSP00000495885 UniProtKB/TrEMBL
  ENSP00000495970 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000331677 UniProtKB/Swiss-Prot
  ENST00000359564 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000430252 UniProtKB/TrEMBL
  ENST00000448740 ENTREZGENE
  ENST00000449314 ENTREZGENE
  ENST00000452085 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643175 UniProtKB/TrEMBL
  ENST00000644252 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645959 ENTREZGENE
  ENST00000645988 UniProtKB/TrEMBL
  ENST00000646710 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000647244 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111817 GTEx
HGNC ID HGNC:21144 ENTREZGENE
Human Proteome Map DSE Human Proteome Map
InterPro Chondroitin_lyas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HepII_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29940 UniProtKB/Swiss-Prot
NCBI Gene 29940 ENTREZGENE
OMIM 605942 OMIM
  615539 OMIM
Pfam DUF4962 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162384080 PharmGKB
Superfamily-SCOP SSF48230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.458358 ENTREZGENE
  Hs.547713 ENTREZGENE
UniProt A0A2R8Y4N7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6Y4_HUMAN UniProtKB/TrEMBL
  A0A2R8YE23_HUMAN UniProtKB/TrEMBL
  A0A2U3TZJ0_HUMAN UniProtKB/TrEMBL
  B7Z1T3 ENTREZGENE, UniProtKB/TrEMBL
  B7Z765 ENTREZGENE, UniProtKB/TrEMBL
  DSE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X6REM1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5R3K6 UniProtKB/Swiss-Prot