DYDC2 (DPY30 domain containing 2) - Rat Genome Database

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Gene: DYDC2 (DPY30 domain containing 2) Homo sapiens
Analyze
Symbol: DYDC2
Name: DPY30 domain containing 2
RGD ID: 1352468
HGNC Page HGNC:23468
Description: Predicted to be part of Set1C/COMPASS complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA36D19.6; DPY30 domain-containing protein 2; MGC16186
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381080,344,745 - 80,368,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1080,344,745 - 80,368,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371082,104,501 - 82,127,829 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361082,106,538 - 82,117,809 (+)NCBINCBI36Build 36hg18NCBI36
Celera1076,106,909 - 76,118,178 (+)NCBICelera
Cytogenetic Map10q23.1NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBIHuRef
CHM1_11082,387,562 - 82,410,890 (+)NCBICHM1_1
T2T-CHM13v2.01081,213,847 - 81,237,175 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16385451   PMID:18197198   PMID:19447967   PMID:21873635   PMID:31515488   PMID:32296183  
PMID:33961781  


Genomics

Comparative Map Data
DYDC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381080,344,745 - 80,368,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1080,344,745 - 80,368,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371082,104,501 - 82,127,829 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361082,106,538 - 82,117,809 (+)NCBINCBI36Build 36hg18NCBI36
Celera1076,106,909 - 76,118,178 (+)NCBICelera
Cytogenetic Map10q23.1NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBIHuRef
CHM1_11082,387,562 - 82,410,890 (+)NCBICHM1_1
T2T-CHM13v2.01081,213,847 - 81,237,175 (+)NCBIT2T-CHM13v2.0
Dydc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391440,770,573 - 40,795,014 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1440,771,074 - 40,791,165 (-)EnsemblGRCm39 Ensembl
GRCm381441,048,957 - 41,073,037 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1441,049,117 - 41,069,208 (-)EnsemblGRCm38mm10GRCm38
MGSCv371441,862,498 - 41,882,363 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361439,957,830 - 39,978,276 (-)NCBIMGSCv36mm8
Celera1437,209,905 - 37,229,113 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1422.36NCBI
Dydc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81616,962,273 - 16,976,034 (-)NCBIGRCr8
mRatBN7.21616,928,172 - 16,941,950 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1616,928,194 - 16,936,164 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1616,992,426 - 17,006,190 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01618,119,131 - 18,132,825 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01617,045,326 - 17,059,090 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01618,635,235 - 18,649,074 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1618,635,388 - 18,645,941 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01618,506,799 - 18,520,613 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41617,489,349 - 17,503,052 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1617,153,567 - 17,167,234 (-)NCBICelera
Cytogenetic Map16p14NCBI
Dydc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955510337,286 - 348,640 (+)NCBIChiLan1.0ChiLan1.0
DYDC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2892,318,871 - 92,341,330 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11092,324,197 - 92,348,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01076,753,681 - 76,776,990 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11080,366,292 - 80,377,100 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1080,366,287 - 80,377,100 (+)Ensemblpanpan1.1panPan2
DYDC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1429,505,037 - 29,514,787 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl429,509,614 - 29,514,409 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha429,630,332 - 29,640,141 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0429,807,913 - 29,817,818 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl429,807,924 - 29,817,440 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1429,677,716 - 29,687,538 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0429,879,966 - 29,889,863 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0430,234,237 - 30,244,042 (+)NCBIUU_Cfam_GSD_1.0
Dydc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721351,207,948 - 51,217,369 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936716193,332 - 203,048 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936716193,371 - 202,521 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DYDC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1482,197,189 - 82,209,280 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11482,197,194 - 82,209,477 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21488,804,970 - 88,817,166 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DYDC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1951,468,299 - 51,478,407 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl951,468,506 - 51,473,067 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604811,793,315 - 11,803,452 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dydc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248416,794,144 - 6,798,945 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248416,794,243 - 6,806,347 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DYDC2
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 copy number loss See cases [RCV000052534] Chr10:79719429..87358394 [GRCh38]
Chr10:81479185..89118151 [GRCh37]
Chr10:81149191..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 copy number loss See cases [RCV000052537] Chr10:79802022..87358394 [GRCh38]
Chr10:81561459..89118151 [GRCh37]
Chr10:81541288..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000052539] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 copy number loss See cases [RCV000052541] Chr10:79898516..86964367 [GRCh38]
Chr10:81658272..88724124 [GRCh37]
Chr10:81648252..88714104 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 copy number loss See cases [RCV000052542] Chr10:79898516..87358394 [GRCh38]
Chr10:81658272..89118151 [GRCh37]
Chr10:81648252..89108131 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 copy number loss See cases [RCV000052544] Chr10:79898516..87109827 [GRCh38]
Chr10:81658272..88869584 [GRCh37]
Chr10:81648252..88859564 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 copy number gain See cases [RCV000053558] Chr10:79881238..87182117 [GRCh38]
Chr10:81640994..88941874 [GRCh37]
Chr10:81630974..88931854 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
NM_138812.3(DYDC1):c.28C>T (p.Leu10Phe) single nucleotide variant Malignant melanoma [RCV000069049] Chr10:80352574 [GRCh38]
Chr10:82112330 [GRCh37]
Chr10:82102310 [NCBI36]
Chr10:10q23.1		 not provided
GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 copy number loss See cases [RCV000135348] Chr10:79925613..86951708 [GRCh38]
Chr10:81685369..88711465 [GRCh37]
Chr10:81675349..88701445 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 copy number loss See cases [RCV000136565] Chr10:79802022..87068261 [GRCh38]
Chr10:81561459..88828018 [GRCh37]
Chr10:81263385..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 copy number loss See cases [RCV000141724] Chr10:79689360..87223773 [GRCh38]
Chr10:81449116..88983530 [GRCh37]
Chr10:81119122..88973510 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 copy number loss See cases [RCV000143178] Chr10:79881238..87180672 [GRCh38]
Chr10:81640994..88940429 [GRCh37]
Chr10:81630974..88930409 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000148069] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1(chr10:82096699-82117672)x3 copy number gain See cases [RCV000447267] Chr10:82096699..82117672 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88975551)x1 copy number loss See cases [RCV000447214] Chr10:81630468..88975551 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1 copy number loss See cases [RCV000447520] Chr10:81892411..88722952 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88973570)x3 copy number gain See cases [RCV000448704] Chr10:81630468..88973570 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1 copy number loss See cases [RCV000511644] Chr10:81597767..88951347 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1 copy number loss See cases [RCV000511659] Chr10:82013260..89166455 [GRCh37]
Chr10:10q23.1-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss See cases [RCV000511693] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3 copy number gain not provided [RCV000683275] Chr10:79808669..84008729 [GRCh37]
Chr10:10q22.3-23.1		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3 copy number gain not provided [RCV000683282] Chr10:81644079..88973306 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic|likely pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10q23.1(chr10:82017686-82108610)x1 copy number loss not provided [RCV000749693] Chr10:82017686..82108610 [GRCh37]
Chr10:10q23.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847) copy number loss not provided [RCV000767565] Chr10:81697811..88768847 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
NM_032372.6(DYDC2):c.148-2A>G single nucleotide variant not provided [RCV000965810] Chr10:80362949 [GRCh38]
Chr10:82122705 [GRCh37]
Chr10:10q23.1		 benign
NM_032372.6(DYDC2):c.70G>T (p.Val24Phe) single nucleotide variant not provided [RCV000881478] Chr10:80362513 [GRCh38]
Chr10:82122269 [GRCh37]
Chr10:10q23.1		 benign
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss not provided [RCV001006339] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.1(chr10:81858697-82127631)x1 copy number loss not provided [RCV000849648] Chr10:81858697..82127631 [GRCh37]
Chr10:10q22.3-23.1		 uncertain significance
GRCh37/hg19 10q23.1(chr10:82008644-82210730)x3 copy number gain not provided [RCV001258453] Chr10:82008644..82210730 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1 copy number loss not provided [RCV001258451] Chr10:81457752..89253430 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1 copy number loss not provided [RCV001258450] Chr10:81617260..89146780 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
Single allele deletion not provided [RCV001260503] Chr10:81585301..89101700 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q23.1(chr10:82028518-82819271)x1 copy number loss not provided [RCV001270636] Chr10:82028518..82819271 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1 copy number loss not provided [RCV001827611] Chr10:81622295..83932730 [GRCh37]
Chr10:10q22.3-23.1		 uncertain significance
NM_001269053.2(DYDC1):c.74G>A (p.Arg25His) single nucleotide variant Inborn genetic diseases [RCV003277002] Chr10:80352528 [GRCh38]
Chr10:82112284 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961) copy number loss Chromosome 10q23 deletion syndrome [RCV002280714] Chr10:81630468..88980961 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
GRCh37/hg19 10q22.3-23.31(chr10:80585057-89721049)x3 copy number gain not provided [RCV002266548] Chr10:80585057..89721049 [GRCh37]
Chr10:10q22.3-23.31		 not provided
NM_032372.6(DYDC2):c.55G>T (p.Ala19Ser) single nucleotide variant Inborn genetic diseases [RCV002839607] Chr10:80362498 [GRCh38]
Chr10:82122254 [GRCh37]
Chr10:10q23.1		 uncertain significance
NM_032372.6(DYDC2):c.73C>T (p.Arg25Trp) single nucleotide variant Inborn genetic diseases [RCV002817890] Chr10:80362516 [GRCh38]
Chr10:82122272 [GRCh37]
Chr10:10q23.1		 uncertain significance
NM_032372.6(DYDC2):c.493G>A (p.Val165Ile) single nucleotide variant Inborn genetic diseases [RCV002925958] Chr10:80366910 [GRCh38]
Chr10:82126666 [GRCh37]
Chr10:10q23.1		 likely benign
NM_001269053.2(DYDC1):c.175C>T (p.Arg59Cys) single nucleotide variant Inborn genetic diseases [RCV002978787] Chr10:80351975 [GRCh38]
Chr10:82111731 [GRCh37]
Chr10:10q23.1		 uncertain significance
NM_001269053.2(DYDC1):c.166A>G (p.Lys56Glu) single nucleotide variant Inborn genetic diseases [RCV002854680] Chr10:80351984 [GRCh38]
Chr10:82111740 [GRCh37]
Chr10:10q23.1		 likely benign
NM_032372.6(DYDC2):c.386T>C (p.Ile129Thr) single nucleotide variant Inborn genetic diseases [RCV002934238] Chr10:80366803 [GRCh38]
Chr10:82126559 [GRCh37]
Chr10:10q23.1		 uncertain significance
NM_032372.6(DYDC2):c.143A>T (p.Glu48Val) single nucleotide variant Inborn genetic diseases [RCV002718172] Chr10:80362586 [GRCh38]
Chr10:82122342 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3 copy number gain See cases [RCV003329515] Chr10:81611360..89264122 [GRCh37]
Chr10:10q22.3-23.2		 pathogenic
NM_032372.6(DYDC2):c.250A>C (p.Asn84His) single nucleotide variant Inborn genetic diseases [RCV003357655] Chr10:80363053 [GRCh38]
Chr10:82122809 [GRCh37]
Chr10:10q23.1		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2007
Count of miRNA genes:517
Interacting mature miRNAs:545
Transcripts:ENST00000256039, ENST00000372197, ENST00000372198, ENST00000372199, ENST00000411538, ENST00000444807
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-56385  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q23.1UniSTS
HuRef1075,969,792 - 75,969,891UniSTS
TNG Radiation Hybrid Map1027350.0UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 1 3 3 1 3 3 106 150 72
Low 34 2 304 116 21 118 246 13 1723 64 472 422 1 22 20
Below cutoff 1232 807 911 376 471 267 2221 926 1074 223 564 813 116 757 1201 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001270041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_070308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_070309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK093378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX823815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ229460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA590784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000256039   ⟹   ENSP00000256039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,356,781 - 80,368,073 (+)Ensembl
RefSeq Acc Id: ENST00000372197   ⟹   ENSP00000361271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,344,759 - 80,368,073 (+)Ensembl
RefSeq Acc Id: ENST00000372198   ⟹   ENSP00000361272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,344,745 - 80,368,073 (+)Ensembl
RefSeq Acc Id: ENST00000372199   ⟹   ENSP00000361273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,344,745 - 80,368,073 (+)Ensembl
RefSeq Acc Id: ENST00000411538   ⟹   ENSP00000401333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,356,773 - 80,366,794 (+)Ensembl
RefSeq Acc Id: ENST00000444807   ⟹   ENSP00000410285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,356,297 - 80,367,281 (+)Ensembl
RefSeq Acc Id: ENST00000616870   ⟹   ENSP00000483479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1080,356,768 - 80,368,073 (+)Ensembl
RefSeq Acc Id: NM_001270041   ⟹   NP_001256970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,356,781 - 80,368,073 (+)NCBI
GRCh371082,104,501 - 82,127,829 (+)NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBI
CHM1_11082,399,594 - 82,410,890 (+)NCBI
T2T-CHM13v2.01081,225,883 - 81,237,175 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270042   ⟹   NP_001256971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,344,745 - 80,368,073 (+)NCBI
GRCh371082,104,501 - 82,127,829 (+)NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBI
CHM1_11082,387,562 - 82,410,890 (+)NCBI
T2T-CHM13v2.01081,213,847 - 81,237,175 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032372   ⟹   NP_115748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,356,781 - 80,368,073 (+)NCBI
GRCh371082,104,501 - 82,127,829 (+)NCBI
Build 361082,106,538 - 82,117,809 (+)NCBI Archive
Celera1076,106,909 - 76,118,178 (+)RGD
HuRef1075,947,715 - 75,970,951 (+)NCBI
CHM1_11082,399,594 - 82,410,890 (+)NCBI
T2T-CHM13v2.01081,225,883 - 81,237,175 (+)NCBI
Sequence:
RefSeq Acc Id: NR_070308
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,344,745 - 80,368,073 (+)NCBI
GRCh371082,104,501 - 82,127,829 (+)NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBI
CHM1_11082,387,562 - 82,410,890 (+)NCBI
T2T-CHM13v2.01081,213,847 - 81,237,175 (+)NCBI
Sequence:
RefSeq Acc Id: NR_070309
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,344,745 - 80,368,073 (+)NCBI
GRCh371082,104,501 - 82,127,829 (+)NCBI
HuRef1075,947,715 - 75,970,951 (+)NCBI
CHM1_11082,387,562 - 82,410,890 (+)NCBI
T2T-CHM13v2.01081,213,847 - 81,237,175 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540267   ⟹   XP_011538569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,358,870 - 80,368,073 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540268   ⟹   XP_011538570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,358,926 - 80,368,073 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540270   ⟹   XP_011538572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,358,869 - 80,367,153 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054366930   ⟹   XP_054222905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01081,227,972 - 81,237,175 (+)NCBI
RefSeq Acc Id: XM_054366931   ⟹   XP_054222906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01081,228,028 - 81,237,175 (+)NCBI
RefSeq Acc Id: XM_054366932   ⟹   XP_054222907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01081,227,971 - 81,236,255 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_115748   ⟸   NM_032372
- Peptide Label: isoform 1
- UniProtKB: Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot),   Q96IM9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001256971   ⟸   NM_001270042
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MRQ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001256970   ⟸   NM_001270041
- Peptide Label: isoform 1
- UniProtKB: Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot),   Q96IM9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538569   ⟸   XM_011540267
- Peptide Label: isoform X1
- UniProtKB: Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot),   Q96IM9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538572   ⟸   XM_011540270
- Peptide Label: isoform X2
- UniProtKB: X1WI30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538570   ⟸   XM_011540268
- Peptide Label: isoform X1
- UniProtKB: Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot),   Q96IM9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361271   ⟸   ENST00000372197
RefSeq Acc Id: ENSP00000361273   ⟸   ENST00000372199
RefSeq Acc Id: ENSP00000361272   ⟸   ENST00000372198
RefSeq Acc Id: ENSP00000401333   ⟸   ENST00000411538
RefSeq Acc Id: ENSP00000256039   ⟸   ENST00000256039
RefSeq Acc Id: ENSP00000410285   ⟸   ENST00000444807
RefSeq Acc Id: ENSP00000483479   ⟸   ENST00000616870
RefSeq Acc Id: XP_054222907   ⟸   XM_054366932
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054222905   ⟸   XM_054366930
- Peptide Label: isoform X1
- UniProtKB: Q96IM9 (UniProtKB/Swiss-Prot),   Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222906   ⟸   XM_054366931
- Peptide Label: isoform X1
- UniProtKB: Q96IM9 (UniProtKB/Swiss-Prot),   Q5QP07 (UniProtKB/Swiss-Prot),   D3DWD6 (UniProtKB/Swiss-Prot),   Q5QP11 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96IM9-F1-model_v2 AlphaFold Q96IM9 1-177 view protein structure

Promoters
RGD ID:7217975
Promoter ID:EPDNEW_H14734
Type:single initiation site
Name:DYDC2_1
Description:DPY30 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381080,344,733 - 80,344,793EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23468 AgrOrtholog
COSMIC DYDC2 COSMIC
Ensembl Genes ENSG00000133665 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000256039 ENTREZGENE
  ENST00000256039.3 UniProtKB/Swiss-Prot
  ENST00000372197 ENTREZGENE
  ENST00000372197.5 UniProtKB/Swiss-Prot
  ENST00000372198 ENTREZGENE
  ENST00000372198.5 UniProtKB/TrEMBL
  ENST00000372199.5 UniProtKB/Swiss-Prot
  ENST00000411538 ENTREZGENE
  ENST00000411538.5 UniProtKB/TrEMBL
  ENST00000444807.6 UniProtKB/Swiss-Prot
  ENST00000616870 ENTREZGENE
  ENST00000616870.4 UniProtKB/Swiss-Prot
Gene3D-CATH cAMP-dependent protein kinase regulatory subunit, dimerization-anchoring domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133665 GTEx
HGNC ID HGNC:23468 ENTREZGENE
Human Proteome Map DYDC2 Human Proteome Map
InterPro Dpy-30_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DYDC-like_DD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sdc1/DPY30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84332 UniProtKB/Swiss-Prot
NCBI Gene 84332 ENTREZGENE
PANTHER DPY30 DOMAIN-CONTAINING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dpy-30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134988160 PharmGKB
UniProt A0A0A0MRQ7 ENTREZGENE, UniProtKB/TrEMBL
  D3DWD6 ENTREZGENE
  DYDC2_HUMAN UniProtKB/Swiss-Prot
  Q5QP07 ENTREZGENE
  Q5QP11 ENTREZGENE
  Q96IM9 ENTREZGENE
  X1WI30 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D3DWD6 UniProtKB/Swiss-Prot
  Q5QP07 UniProtKB/Swiss-Prot
  Q5QP11 UniProtKB/Swiss-Prot