DYM (dymeclin) - Rat Genome Database

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Gene: DYM (dymeclin) Homo sapiens
Analyze
Symbol: DYM
Name: dymeclin
RGD ID: 1350887
HGNC Page HGNC:21317
Description: Enables enzyme binding activity. Involved in Golgi organization and bone development. Located in Golgi apparatus. Implicated in Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia 1; and osteochondrodysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DMC; dyggve-Melchior-Clausen syndrome protein; FLJ20071; FLJ90130; SMC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,036,387 - 49,460,645 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1849,036,387 - 49,461,347 (-)EnsemblGRCh38hg38GRCh38
GRCh371846,562,757 - 46,987,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,824,170 - 45,241,077 (-)NCBINCBI36Build 36hg18NCBI36
Build 341844,824,169 - 45,241,077NCBI
Celera1843,423,709 - 43,842,456 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,422,918 - 43,840,755 (-)NCBIHuRef
CHM1_11846,565,142 - 46,982,392 (-)NCBICHM1_1
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanosteochondrodysplasia  IAGP 1598787 RGD 
1 to 20 of 36 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanchromosome 18q deletion syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Monosomy 18q and deletion 18qClinVarPMID:31690835
DYMHumanconnective tissue disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Connective tissue disorderClinVarPMID:25741868
DYMHumanconnective tissue disease  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:25741868
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVar 
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12161821 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:28492532
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12554689 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:25741868 and PMID:32886330
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 more ...
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:12491225 and PMID:16097008
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:16097008
DYMHumanDyggve-Melchior-Clausen disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndromeClinVarPMID:25741868 and PMID:28492532
DYMHumangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:12491225 more ...
DYMHumangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
1 to 20 of 36 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanDyggve-Melchior-Clausen disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
DYMHumanSmith-McCort dysplasia  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanSmith-McCort dysplasia  ISSDym (Mus musculus)13592920 MouseDO 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanDyggve-Melchior-Clausen disease  IAGP 7240710 OMIM 
DYMHumanSmith-McCort dysplasia 1  IAGP 7240710 OMIM 

1 to 20 of 62 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISODym (Mus musculus)6480464[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of DYM mRNACTDPMID:16214954
DYMHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISODym (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of DYM mRNACTDPMID:33387578 and PMID:34747641
DYMHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISODym (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of DYM mRNACTDPMID:21570461
DYMHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODym (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of DYM mRNACTDPMID:21215274 and PMID:32109520
DYMHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISODym (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of DYM mRNACTDPMID:18796159
DYMHuman2,3,7,8-Tetrachlorodibenzofuran decreases expressionISODym (Rattus norvegicus)64804642 more ...CTDPMID:32109520
DYMHumanaflatoxin B1 affects expressionEXP 6480464Aflatoxin B1 affects the expression of DYM proteinCTDPMID:20106945
DYMHumanaflatoxin B1 increases methylationEXP 6480464Aflatoxin B1 results in increased methylation of DYM intronCTDPMID:30157460
DYMHumanaflatoxin B1 decreases expressionISODym (Mus musculus)6480464Aflatoxin B1 results in decreased expression of DYM mRNACTDPMID:19770486
DYMHumanall-trans-retinoic acid decreases expressionEXP 6480464Tretinoin results in decreased expression of DYM mRNACTDPMID:33167477
DYMHumanaristolochic acid A decreases expressionEXP 6480464aristolochic acid I results in decreased expression of DYM mRNACTDPMID:33212167
DYMHumanarsane affects methylationEXP 6480464Arsenic affects the methylation of DYM geneCTDPMID:25304211
DYMHumanarsenic atom affects methylationEXP 6480464Arsenic affects the methylation of DYM geneCTDPMID:25304211
DYMHumanbenzo[a]pyrene decreases expressionISODym (Mus musculus)6480464Benzo(a)pyrene results in decreased expression of DYM mRNACTDPMID:19770486 and PMID:21715664
DYMHumanbenzo[a]pyrene increases methylationISODym (Mus musculus)6480464Benzo(a)pyrene results in increased methylation of DYM intronCTDPMID:27901495
DYMHumanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of DYM promoterCTDPMID:27901495
DYMHumanbenzo[a]pyrene decreases expressionEXP 6480464Benzo(a)pyrene results in decreased expression of DYM mRNACTDPMID:20064835 more ...
DYMHumanbenzo[e]pyrene increases methylationEXP 6480464benzo(e)pyrene results in increased methylation of DYM intronCTDPMID:30157460
DYMHumanbis(2-chloroethyl) sulfide affects expressionISODym (Rattus norvegicus)6480464Mustard Gas affects the expression of DYM mRNACTDPMID:15651846
DYMHumanbisphenol A increases expressionISODym (Rattus norvegicus)6480464bisphenol A results in increased expression of DYM mRNACTDPMID:25181051

1 to 20 of 62 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanbone development involved_inIMP 150520179 PMID:21280149UniProtPMID:21280149
DYMHumanGolgi organization involved_inIMP 150520179 PMID:21280149UniProtPMID:21280149
DYMHumanGolgi organization involved_inIBAPANTHER:PTN000307154 and UniProtKB:Q7RTS9150520179 GO_CentralGO_REF:0000033

Cellular Component
1 to 9 of 9 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
DYMHumancytoplasm located_inIEAUniProtKB-SubCell:SL-0086150520179 UniProtGO_REF:0000044
DYMHumancytoplasm located_inIDA 150520179 PMID:21280149UniProtPMID:21280149
DYMHumanGolgi apparatus located_inIEAUniProtKB-SubCell:SL-0132150520179 UniProtGO_REF:0000044
DYMHumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
DYMHumanGolgi apparatus is_active_inIBAPANTHER:PTN000307154 and UniProtKB:Q7RTS9150520179 GO_CentralGO_REF:0000033
DYMHumanGolgi apparatus located_inIDA 150520179 PMID:21280149UniProtGO_REF:0000052 and PMID:21280149
DYMHumanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
DYMHumanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
1 to 9 of 9 rows

Molecular Function

  

1 to 20 of 155 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanAbdominal distention  IAGP 8699517 HPOMIM:223800
DYMHumanAbnormal circulating enzyme concentration or activity  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormal femoral head morphology  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormal hip bone morphology  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormal pelvis bone morphology  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormality of the ankle  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormality of the vertebral column  IAGP 8699517 HPOORPHA:239
DYMHumanAbnormality of the vertebral endplates  IAGP 8699517 HPOORPHA:239
DYMHumanAbsent speech  IAGP 8699517 HPOMIM:223800
DYMHumanAtlantoaxial instability  IAGP 8699517 HPOMIM:607326
DYMHumanAtlantoaxial instability  IAGP 8699517 HPOORPHA:239
DYMHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:607326
DYMHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:223800
DYMHumanBarrel-shaped chest  IAGP 8699517 HPOMIM:223800
DYMHumanBarrel-shaped chest  IAGP 8699517 HPOMIM:607326
DYMHumanBeaking of vertebral bodies  IAGP 8699517 HPOMIM:223800
DYMHumanBeaking of vertebral bodies  IAGP 8699517 HPOORPHA:239
DYMHumanBeaking of vertebral bodies  IAGP 8699517 HPOMIM:607326
DYMHumanBrachydactyly  IAGP 8699517 HPOMIM:223800
DYMHumanBroad carpal bones  IAGP 8699517 HPOORPHA:239
1 to 20 of 155 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DYMHumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVar 
DYMHumanProstate cancer  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Prostatic cancerClinVarPMID:23265383
DYMHumanSchizophrenia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SchizophreniaClinVar 

#
Reference Title
Reference Citation
1. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Cohn DH, etal., Am J Hum Genet. 2003 Feb;72(2):419-28. Epub 2002 Dec 16.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
PMID:8125298   PMID:11827452   PMID:12161821   PMID:12362026   PMID:12477932   PMID:12554689   PMID:14702039   PMID:15489334   PMID:17456239   PMID:18029348   PMID:18391952   PMID:18996921  
PMID:20379614   PMID:20546612   PMID:20555340   PMID:20865280   PMID:20881960   PMID:21280149   PMID:21873635   PMID:21998595   PMID:22021425   PMID:23064961   PMID:23563607   PMID:24300288  
PMID:25429064   PMID:25652408   PMID:26186194   PMID:26618866   PMID:27432908   PMID:28514442   PMID:28611215   PMID:30833792   PMID:31091453   PMID:32886330   PMID:33060197   PMID:33961781  
PMID:35007762   PMID:35831314   PMID:36215168   PMID:37827155  



DYM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,036,387 - 49,460,645 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1849,036,387 - 49,461,347 (-)EnsemblGRCh38hg38GRCh38
GRCh371846,562,757 - 46,987,015 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,824,170 - 45,241,077 (-)NCBINCBI36Build 36hg18NCBI36
Build 341844,824,169 - 45,241,077NCBI
Celera1843,423,709 - 43,842,456 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,422,918 - 43,840,755 (-)NCBIHuRef
CHM1_11846,565,142 - 46,982,392 (-)NCBICHM1_1
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBIT2T-CHM13v2.0
Dym
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391875,151,772 - 75,420,037 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1875,151,852 - 75,420,035 (+)EnsemblGRCm39 Ensembl
GRCm381875,018,699 - 75,286,966 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1875,018,781 - 75,286,964 (+)EnsemblGRCm38mm10GRCm38
MGSCv371875,178,426 - 75,446,620 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361875,144,137 - 75,412,331 (+)NCBIMGSCv36mm8
Celera1876,242,337 - 76,521,558 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1850.97NCBI
Dym
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81870,879,835 - 71,176,006 (+)NCBIGRCr8
mRatBN7.21868,605,131 - 68,900,905 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1868,605,185 - 68,900,903 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1870,718,041 - 71,013,638 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01871,386,410 - 71,683,811 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01869,244,060 - 69,539,675 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01870,996,074 - 71,313,033 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1870,996,044 - 71,313,084 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01870,178,416 - 70,449,688 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41871,889,053 - 72,188,251 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11871,962,174 - 72,261,226 (+)NCBI
Celera1866,780,263 - 67,073,707 (+)NCBICelera
Cytogenetic Map18q12.2NCBI
Dym
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540234,150,783 - 34,542,507 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540234,150,783 - 34,541,944 (-)NCBIChiLan1.0ChiLan1.0
DYM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21766,578,224 - 66,989,529 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11852,268,524 - 52,682,132 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01842,427,493 - 42,842,450 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11845,780,831 - 46,179,616 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1845,783,379 - 46,162,835 (-)Ensemblpanpan1.1panPan2
DYM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1779,286,558 - 79,629,451 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl779,286,614 - 79,629,043 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha778,691,499 - 79,034,045 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0779,353,467 - 79,696,604 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl779,353,400 - 79,697,033 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1779,068,269 - 79,410,974 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0779,098,408 - 79,441,226 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0779,383,285 - 79,726,463 (+)NCBIUU_Cfam_GSD_1.0
Dym
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494438,237,505 - 38,575,582 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649713,476,326 - 13,818,059 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649713,476,376 - 13,816,515 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DYM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl198,638,339 - 99,024,642 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1198,642,506 - 99,024,664 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21108,216,906 - 108,352,210 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DYM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11831,513,665 - 31,902,064 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1831,513,735 - 31,901,811 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660505,734,433 - 6,137,618 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dym
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477812,541,566 - 12,977,314 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477812,541,566 - 12,977,319 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in DYM
385 total Variants

1 to 10 of 416 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV001591181]|not provided [RCV000519107] Chr18:49379744 [GRCh38]
Chr18:46906114 [GRCh37]
Chr18:18q21.1
pathogenic|likely pathogenic
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003334]|not provided [RCV005089150] Chr18:49430347 [GRCh38]
Chr18:46956717 [GRCh37]
Chr18:18q21.1
pathogenic
NM_001353214.3(DYM):c.763del (p.Thr255fs) deletion Dyggve-Melchior-Clausen syndrome [RCV000003335] Chr18:49331864 [GRCh38]
Chr18:46858234 [GRCh37]
Chr18:18q21.1
pathogenic
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003336]|Dyggve-Melchior-Clausen syndrome [RCV002482820]|Inborn genetic diseases [RCV002512699]|not provided [RCV001851607] Chr18:49378592 [GRCh38]
Chr18:46904962 [GRCh37]
Chr18:18q21.1
pathogenic|likely pathogenic
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr) single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003337] Chr18:49257065 [GRCh38]
Chr18:46783435 [GRCh37]
Chr18:18q21.1
pathogenic
DYM, IVS7AS, A-G, -2 single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003339]|Smith McCort dysplasia [RCV000003338]|Smith-McCort dysplasia 1 [RCV000003338] Chr18:18q12-q21.1 pathogenic
NM_001353214.3(DYM):c.259G>A (p.Glu87Lys) single nucleotide variant DYM-related disorder [RCV004758589]|Smith-McCort dysplasia 1 [RCV000003340]|not provided [RCV002512700] Chr18:49379693 [GRCh38]
Chr18:46906063 [GRCh37]
Chr18:18q21.1
pathogenic|uncertain significance
NM_001353214.3(DYM):c.1252-1G>A single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003341]|not provided [RCV001851608] Chr18:49258494 [GRCh38]
Chr18:46784864 [GRCh37]
Chr18:18q21.1
pathogenic
NM_001353214.3(DYM):c.2043del (p.Lys681fs) deletion Dyggve-Melchior-Clausen syndrome [RCV000003342]|not provided [RCV001851609] Chr18:49044187 [GRCh38]
Chr18:46570557 [GRCh37]
Chr18:18q21.1
pathogenic|likely pathogenic
NM_001353214.3(DYM):c.422-2A>G single nucleotide variant Dyggve-Melchior-Clausen syndrome [RCV000003343] Chr18:49363235 [GRCh38]
Chr18:46889605 [GRCh37]
Chr18:18q21.1
pathogenic
1 to 10 of 416 rows

Predicted Target Of
Summary Value
Count of predictions:2668
Count of miRNA genes:1029
Interacting mature miRNAs:1251
Transcripts:ENST00000269445, ENST00000418472, ENST00000442713, ENST00000577481, ENST00000577734, ENST00000577836, ENST00000578396, ENST00000578596, ENST00000579058, ENST00000580615, ENST00000581409, ENST00000581738, ENST00000582095, ENST00000582399, ENST00000583225, ENST00000583270, ENST00000583280, ENST00000583353, ENST00000584977, ENST00000584983
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.


1 to 10 of 108 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597308312GWAS1404386_HBMI-adjusted hip circumference QTL GWAS1404386 (human)2e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)184903794349037944Human
597233821GWAS1329895_Happendicular lean mass QTL GWAS1329895 (human)1e-38appendicular lean mass184908547249085473Human
597308063GWAS1404137_HBMI-adjusted hip circumference QTL GWAS1404137 (human)5e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)184916314149163142Human
597233822GWAS1329896_Happendicular lean mass QTL GWAS1329896 (human)2e-09appendicular lean mass184911695949116960Human
597240979GWAS1337053_HBMI-adjusted waist-hip ratio QTL GWAS1337053 (human)2e-10body size trait (VT:0100005)184905180149051802Human
597308560GWAS1404634_HBMI-adjusted hip circumference QTL GWAS1404634 (human)3e-23BMI-adjusted hip circumferencehip circumference (CMO:0000014)184939713349397134Human
597240978GWAS1337052_HBMI-adjusted waist-hip ratio QTL GWAS1337052 (human)6e-09body size trait (VT:0100005)184905678349056784Human
597240981GWAS1337055_HBMI-adjusted waist-hip ratio QTL GWAS1337055 (human)2e-08body size trait (VT:0100005)184918321949183220Human
597240980GWAS1337054_HBMI-adjusted waist-hip ratio QTL GWAS1337054 (human)4e-08body size trait (VT:0100005)184906128449061285Human
597341079GWAS1437153_Hcartilage thickness measurement QTL GWAS1437153 (human)9e-20cartilage morphology trait (VT:0000163)184911441249114413Human

1 to 10 of 108 rows
SHGC-77740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,687,194 - 46,687,528UniSTSGRCh37
Build 361844,941,192 - 44,941,526RGDNCBI36
Celera1843,541,617 - 43,541,951RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,540,454 - 43,540,788UniSTS
TNG Radiation Hybrid Map1818443.0UniSTS
G62992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,878,840 - 46,879,115UniSTSGRCh37
Build 361845,132,838 - 45,133,113RGDNCBI36
Celera1843,733,294 - 43,733,569RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,732,413 - 43,732,688UniSTS
TNG Radiation Hybrid Map1818571.0UniSTS
D18S106E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,797,252 - 46,797,433UniSTSGRCh37
GRCh371846,797,473 - 46,797,567UniSTSGRCh37
Build 361845,051,471 - 45,051,565RGDNCBI36
Celera1843,651,900 - 43,651,994RGD
Celera1843,651,679 - 43,651,860UniSTS
Cytogenetic Map18q21.1UniSTS
HuRef1843,651,048 - 43,651,142UniSTS
HuRef1843,650,827 - 43,651,008UniSTS
TNG Radiation Hybrid Map1818519.0UniSTS
Stanford-G3 RH Map181845.0UniSTS
NCBI RH Map18590.6UniSTS
GeneMap99-G3 RH Map181845.0UniSTS
SHGC-144774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,581,716 - 46,582,008UniSTSGRCh37
Build 361844,835,714 - 44,836,006RGDNCBI36
Celera1843,435,253 - 43,435,545RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,434,457 - 43,434,749UniSTS
TNG Radiation Hybrid Map1818392.0UniSTS
WI-17768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,924,292 - 46,924,391UniSTSGRCh37
Build 361845,178,290 - 45,178,389RGDNCBI36
Celera1843,778,716 - 43,778,815RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,777,865 - 43,777,964UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
Whitehead-RH Map18345.8UniSTS
NCBI RH Map18589.6UniSTS
SHGC-144977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,972,686 - 46,973,030UniSTSGRCh37
Build 361845,226,684 - 45,227,028RGDNCBI36
Celera1843,828,064 - 43,828,408RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,826,412 - 43,826,706UniSTS
TNG Radiation Hybrid Map1818639.0UniSTS
SHGC-154967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,835,527 - 46,835,733UniSTSGRCh37
Build 361845,089,525 - 45,089,731RGDNCBI36
Celera1843,689,949 - 43,690,155RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,689,089 - 43,689,295UniSTS
TNG Radiation Hybrid Map1818554.0UniSTS
RH46385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,670,769 - 46,670,938UniSTSGRCh37
Build 361844,924,767 - 44,924,936RGDNCBI36
Celera1843,525,185 - 43,525,354RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,524,021 - 43,524,190UniSTS
GeneMap99-GB4 RH Map18379.84UniSTS
NCBI RH Map18589.6UniSTS
SHGC-30879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,621,849 - 46,621,992UniSTSGRCh37
Build 361844,875,847 - 44,875,990RGDNCBI36
Celera1843,476,265 - 43,476,408RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,475,105 - 43,475,248UniSTS
Stanford-G3 RH Map181850.0UniSTS
GeneMap99-GB4 RH Map18347.95UniSTS
Whitehead-RH Map18345.4UniSTS
NCBI RH Map18591.6UniSTS
GeneMap99-G3 RH Map181850.0UniSTS
D18S361E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,733,738 - 46,733,831UniSTSGRCh37
GRCh371846,733,669 - 46,733,760UniSTSGRCh37
Build 361844,987,667 - 44,987,758RGDNCBI36
Celera1843,588,165 - 43,588,258UniSTS
Celera1843,588,096 - 43,588,187RGD
HuRef1843,587,354 - 43,587,447UniSTS
HuRef1843,587,285 - 43,587,376UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
RH46012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,962,673 - 46,962,834UniSTSGRCh37
Build 361845,216,671 - 45,216,832RGDNCBI36
Celera1843,818,069 - 43,818,230RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,816,237 - 43,816,398UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
D18S917E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,570,206 - 46,570,360UniSTSGRCh37
Build 361844,824,204 - 44,824,358RGDNCBI36
Celera1843,423,743 - 43,423,897RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,422,952 - 43,423,106UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
D18S106E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.1UniSTS
D18S361E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.1UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 30 of 83 rows
RefSeq Transcripts NG_009239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 83 rows

Ensembl Acc Id: ENST00000269445   ⟹   ENSP00000269445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,041,474 - 49,460,802 (-)Ensembl
Ensembl Acc Id: ENST00000418472   ⟹   ENSP00000415292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,448 - 49,411,941 (-)Ensembl
Ensembl Acc Id: ENST00000442713   ⟹   ENSP00000395942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,043,669 - 49,460,665 (-)Ensembl
Ensembl Acc Id: ENST00000577481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,379,746 - 49,460,638 (-)Ensembl
Ensembl Acc Id: ENST00000577734   ⟹   ENSP00000464163
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,043,804 - 49,097,493 (-)Ensembl
Ensembl Acc Id: ENST00000577836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,417,939 - 49,460,641 (-)Ensembl
Ensembl Acc Id: ENST00000578396   ⟹   ENSP00000463892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,321,125 - 49,378,649 (-)Ensembl
Ensembl Acc Id: ENST00000578596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,363,219 - 49,413,132 (-)Ensembl
Ensembl Acc Id: ENST00000579058   ⟹   ENSP00000462954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,378,623 - 49,460,627 (-)Ensembl
Ensembl Acc Id: ENST00000580615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,452 - 49,359,872 (-)Ensembl
Ensembl Acc Id: ENST00000581409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,391,610 - 49,460,643 (-)Ensembl
Ensembl Acc Id: ENST00000581738   ⟹   ENSP00000464183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,489 - 49,368,713 (-)Ensembl
Ensembl Acc Id: ENST00000582095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,391,620 - 49,460,645 (-)Ensembl
Ensembl Acc Id: ENST00000582399   ⟹   ENSP00000462657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,163,711 - 49,258,408 (-)Ensembl
Ensembl Acc Id: ENST00000583225   ⟹   ENSP00000464653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,488 - 49,368,697 (-)Ensembl
Ensembl Acc Id: ENST00000583270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,097,185 - 49,116,189 (-)Ensembl
Ensembl Acc Id: ENST00000583280   ⟹   ENSP00000462466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,286,497 - 49,368,707 (-)Ensembl
Ensembl Acc Id: ENST00000583353   ⟹   ENSP00000464089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,378,659 - 49,461,347 (-)Ensembl
Ensembl Acc Id: ENST00000584977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,390,720 - 49,460,714 (-)Ensembl
Ensembl Acc Id: ENST00000584983   ⟹   ENSP00000461989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,282,168 - 49,368,706 (-)Ensembl
Ensembl Acc Id: ENST00000675505   ⟹   ENSP00000501694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1849,036,387 - 49,460,645 (-)Ensembl
RefSeq Acc Id: NM_001353210   ⟹   NP_001340139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353211   ⟹   NP_001340140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353212   ⟹   NP_001340141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353213   ⟹   NP_001340142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353214   ⟹   NP_001340143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353215   ⟹   NP_001340144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353216   ⟹   NP_001340145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374428   ⟹   NP_001361357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374429   ⟹   NP_001361358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374430   ⟹   NP_001361359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374431   ⟹   NP_001361360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374432   ⟹   NP_001361361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374433   ⟹   NP_001361362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374434   ⟹   NP_001361363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374435   ⟹   NP_001361364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374436   ⟹   NP_001361365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374437   ⟹   NP_001361366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374438   ⟹   NP_001361367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374439   ⟹   NP_001361368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374440   ⟹   NP_001361369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374441   ⟹   NP_001361370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374442   ⟹   NP_001361371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374443   ⟹   NP_001361372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374444   ⟹   NP_001361373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017653   ⟹   NP_060123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
GRCh371846,567,846 - 46,987,172 (-)NCBI
Build 361844,824,170 - 45,241,077 (-)NCBI Archive
HuRef1843,422,918 - 43,840,755 (-)ENTREZGENE
CHM1_11846,565,142 - 46,982,392 (-)NCBI
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006722492   ⟹   XP_006722555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,248,325 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526036   ⟹   XP_011524338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526037   ⟹   XP_011524339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526038   ⟹   XP_011524340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526039   ⟹   XP_011524341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526041   ⟹   XP_011524343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011526042   ⟹   XP_011524344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025795   ⟹   XP_016881284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437553   ⟹   XP_047293509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437554   ⟹   XP_047293510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437555   ⟹   XP_047293511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437556   ⟹   XP_047293512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437557   ⟹   XP_047293513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,097,426 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437558   ⟹   XP_047293514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437559   ⟹   XP_047293515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,036,387 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_047437560   ⟹   XP_047293516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,092,102 - 49,460,645 (-)NCBI
RefSeq Acc Id: XM_054318697   ⟹   XP_054174672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318698   ⟹   XP_054174673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318699   ⟹   XP_054174674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318700   ⟹   XP_054174675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318701   ⟹   XP_054174676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318702   ⟹   XP_054174677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318703   ⟹   XP_054174678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318704   ⟹   XP_054174679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318705   ⟹   XP_054174680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318706   ⟹   XP_054174681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318707   ⟹   XP_054174682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318708   ⟹   XP_054174683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,293,852 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318709   ⟹   XP_054174684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318710   ⟹   XP_054174685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318711   ⟹   XP_054174686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,231,816 - 49,569,630 (-)NCBI
RefSeq Acc Id: XM_054318712   ⟹   XP_054174687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,440,468 - 49,658,383 (-)NCBI
RefSeq Acc Id: XM_054318713   ⟹   XP_054174688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,288,528 - 49,658,383 (-)NCBI
1 to 30 of 82 rows
Protein RefSeqs NP_001340139 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361360 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361363 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361366 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361367 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361368 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361369 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361370 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361372 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361373 (Get FASTA)   NCBI Sequence Viewer  
  NP_060123 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722555 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524338 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524339 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524340 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524341 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 82 rows
1 to 5 of 71 rows
1 to 5 of 71 rows
RefSeq Acc Id: NP_060123   ⟸   NM_017653
- Peptide Label: isoform 1
- UniProtKB: Q9BVE9 (UniProtKB/Swiss-Prot),   Q8N2M0 (UniProtKB/Swiss-Prot),   Q6P2P5 (UniProtKB/Swiss-Prot),   Q3ZTS8 (UniProtKB/Swiss-Prot),   B4DKI7 (UniProtKB/Swiss-Prot),   B2RCF9 (UniProtKB/Swiss-Prot),   A8K5I8 (UniProtKB/Swiss-Prot),   Q9NPU7 (UniProtKB/Swiss-Prot),   Q7RTS9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722555   ⟸   XM_006722492
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_011524339   ⟸   XM_011526037
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011524340   ⟸   XM_011526038
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011524343   ⟸   XM_011526041
- Peptide Label: isoform X6
- Sequence:

Name Modeler Protein Id AA Range Protein Structure
AF-Q7RTS9-F1-model_v2 AlphaFold Q7RTS9 1-669 view protein structure

RGD ID:6794815
Promoter ID:HG_KWN:28000
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:NM_017653
Position:
Human AssemblyChrPosition (strand)Source
Build 361845,240,781 - 45,241,281 (-)MPROMDB
RGD ID:7237293
Promoter ID:EPDNEW_H24393
Type:multiple initiation site
Name:DYM_2
Description:dymeclin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24394  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,258,436 - 49,258,496EPDNEW
RGD ID:7237299
Promoter ID:EPDNEW_H24394
Type:initiation region
Name:DYM_1
Description:dymeclin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24393  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,460,645 - 49,460,705EPDNEW


1 to 40 of 48 rows
Database
Acc Id
Source(s)
COSMIC DYM COSMIC
Ensembl Genes ENSG00000141627 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269445 ENTREZGENE
  ENST00000269445.10 UniProtKB/Swiss-Prot
  ENST00000442713 ENTREZGENE
  ENST00000442713.6 UniProtKB/Swiss-Prot
  ENST00000675505 ENTREZGENE
GTEx ENSG00000141627 GTEx
HGNC ID HGNC:21317 ENTREZGENE
Human Proteome Map DYM Human Proteome Map
InterPro Dymeclin UniProtKB/Swiss-Prot
KEGG Report hsa:54808 UniProtKB/Swiss-Prot
NCBI Gene 54808 ENTREZGENE
OMIM 607461 OMIM
PANTHER DYMECLIN UniProtKB/Swiss-Prot
  PTHR12895 UniProtKB/Swiss-Prot
Pfam Dymeclin UniProtKB/Swiss-Prot
PharmGKB PA134879547 PharmGKB
UniProt A0A6Q8PF81 ENTREZGENE, UniProtKB/TrEMBL
  A5XEI3_HUMAN UniProtKB/TrEMBL
  A8K5I8 ENTREZGENE
  B2RCF9 ENTREZGENE
  B4DKI7 ENTREZGENE
  DYM_HUMAN UniProtKB/Swiss-Prot
  E9PG80_HUMAN UniProtKB/TrEMBL
  J3KRG4_HUMAN UniProtKB/TrEMBL
  J3KSF9_HUMAN UniProtKB/TrEMBL
  J3KTF2_HUMAN UniProtKB/TrEMBL
  J3QQT7_HUMAN UniProtKB/TrEMBL
  J3QR81_HUMAN UniProtKB/TrEMBL
  J3QRD8_HUMAN UniProtKB/TrEMBL
  J3QRF2_HUMAN UniProtKB/TrEMBL
  J3QSE7_HUMAN UniProtKB/TrEMBL
  Q3ZTS8 ENTREZGENE
  Q6P2P5 ENTREZGENE
  Q7RTS9 ENTREZGENE
  Q8N2M0 ENTREZGENE
  Q9BVE9 ENTREZGENE
  Q9NPU7 ENTREZGENE
  Q9NXS9_HUMAN UniProtKB/TrEMBL
1 to 40 of 48 rows