DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13) - Rat Genome Database

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Gene: DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13) Homo sapiens
Analyze
Symbol: DNAJC13
Name: DnaJ heat shock protein family (Hsp40) member C13
RGD ID: 1317589
HGNC Page HGNC:30343
Description: Involved in endosome organization; regulation of early endosome to late endosome transport; and regulation of early endosome to recycling endosome transport. Located in WASH complex; cytosol; and early endosome membrane. Implicated in Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DnaJ (Hsp40) homolog, subfamily C, member 13; DnaJ domain-containing protein RME-8; dnaJ homolog subfamily C member 13; FLJ25863; KIAA0678; PARK21; required for receptor-mediated endocytosis 8; RME-8; RME8
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
GRCh383132,417,502 - 132,539,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)EnsemblGRCh38hg38GRCh38
GRCh373132,136,346 - 132,257,876 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363133,619,243 - 133,740,566 (+)NCBINCBI36Build 36hg18NCBI36
Celera3130,562,832 - 130,684,152 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3129,515,775 - 129,637,299 (+)NCBIHuRef
CHM1_13132,099,536 - 132,220,871 (+)NCBICHM1_1
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)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

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

References - curated
# Reference Title Reference Citation
1. Retromer and sorting nexins in endosomal sorting. Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290.
2. The endosomal pathway in Parkinson's disease. Perrett RM, etal., Mol Cell Neurosci. 2015 May;66(Pt A):21-8. doi: 10.1016/j.mcn.2015.02.009. Epub 2015 Feb 19.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9734811   PMID:12438707   PMID:12477932   PMID:14702039   PMID:15051737   PMID:15302935   PMID:15489334   PMID:15538384   PMID:15840729   PMID:16179350   PMID:16210410   PMID:17897319  
PMID:18022941   PMID:18256511   PMID:18307993   PMID:19056867   PMID:19874558   PMID:19946888   PMID:20467437   PMID:21145461   PMID:21674799   PMID:21873635   PMID:21900206   PMID:22507240  
PMID:22810586   PMID:23402259   PMID:24097068   PMID:24126164   PMID:24218364   PMID:24639526   PMID:24643499   PMID:25118025   PMID:25186792   PMID:25393719   PMID:25544563   PMID:25550792  
PMID:25921289   PMID:26134565   PMID:26167880   PMID:26186194   PMID:26278106   PMID:26344197   PMID:26496610   PMID:26965686   PMID:27034005   PMID:27173435   PMID:27236598   PMID:27432908  
PMID:27591049   PMID:27880917   PMID:28065597   PMID:28514442   PMID:28611215   PMID:29180619   PMID:29309590   PMID:29467282   PMID:29478914   PMID:29491746   PMID:29507755   PMID:29509190  
PMID:29568061   PMID:29887357   PMID:30021884   PMID:30471916   PMID:30737378   PMID:31048545   PMID:31082451   PMID:31091453   PMID:31343991   PMID:31586073   PMID:32322926   PMID:32513696  
PMID:32614325   PMID:32687490   PMID:32850835   PMID:33005030   PMID:33239198   PMID:33239621   PMID:33545068   PMID:33658012   PMID:33731348   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34315543   PMID:34349018   PMID:34432599   PMID:34650049   PMID:34709266   PMID:34732716   PMID:35271311   PMID:35439318   PMID:35844135   PMID:35850772   PMID:35915203   PMID:35944360  
PMID:36168628   PMID:36215168   PMID:36232890   PMID:36517590   PMID:36538041   PMID:37232246   PMID:38113892   PMID:38697112   PMID:39098523  


Genomics

Comparative Map Data
DNAJC13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383132,417,502 - 132,539,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)EnsemblGRCh38hg38GRCh38
GRCh373132,136,346 - 132,257,876 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363133,619,243 - 133,740,566 (+)NCBINCBI36Build 36hg18NCBI36
Celera3130,562,832 - 130,684,152 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3129,515,775 - 129,637,299 (+)NCBIHuRef
CHM1_13132,099,536 - 132,220,871 (+)NCBICHM1_1
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBIT2T-CHM13v2.0
Dnajc13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399104,028,796 - 104,140,807 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9104,028,481 - 104,140,129 (-)EnsemblGRCm39 Ensembl
GRCm389104,151,597 - 104,263,608 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9104,151,282 - 104,262,930 (-)EnsemblGRCm38mm10GRCm38
MGSCv379104,053,927 - 104,165,260 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369104,009,627 - 104,124,570 (-)NCBIMGSCv36mm8
Celera9103,704,588 - 103,815,197 (-)NCBICelera
Cytogenetic Map9F1NCBI
cM Map956.61NCBI
Dnajc13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88113,646,573 - 113,756,104 (-)NCBIGRCr8
mRatBN7.28104,767,785 - 104,877,317 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8104,767,788 - 104,877,317 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8110,414,878 - 110,524,417 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08108,614,065 - 108,723,604 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08106,456,768 - 106,566,306 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08112,697,907 - 112,830,445 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8112,698,348 - 112,807,598 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08112,084,097 - 112,193,820 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48109,211,093 - 109,304,212 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18109,230,855 - 109,340,202 (-)NCBI
Celera8104,132,362 - 104,265,570 (-)NCBICelera
Cytogenetic Map8q32NCBI
Dnajc13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555015,976,182 - 6,093,384 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555015,980,407 - 6,111,424 (-)NCBIChiLan1.0ChiLan1.0
DNAJC13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22130,370,262 - 130,489,497 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13130,374,990 - 130,494,225 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03129,492,658 - 129,612,040 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13136,970,007 - 137,088,775 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3136,970,007 - 137,088,775 (+)Ensemblpanpan1.1panPan2
DNAJC13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12329,389,120 - 29,506,339 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2329,389,979 - 29,506,343 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2329,363,599 - 29,480,811 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02329,902,287 - 30,019,700 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2329,902,343 - 30,019,691 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12329,595,604 - 29,713,015 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02329,654,643 - 29,772,015 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02329,903,248 - 30,021,073 (+)NCBIUU_Cfam_GSD_1.0
Dnajc13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560269,007,767 - 69,123,177 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365295,785,538 - 5,883,097 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365295,768,229 - 5,883,841 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJC13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1373,573,926 - 73,707,948 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11373,573,887 - 73,707,951 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21381,147,749 - 81,279,638 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJC13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11557,727,636 - 57,846,469 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1557,726,576 - 57,846,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604130,715,919 - 30,836,232 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnajc13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247308,517,998 - 8,648,318 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247308,497,781 - 8,649,058 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAJC13
259 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) single nucleotide variant Essential tremor [RCV000170476]|Parkinson disease 21 [RCV000170494]|Parkinson disease, late-onset [RCV000049582] Chr3:132477995 [GRCh38]
Chr3:132196839 [GRCh37]
Chr3:3q22.1		 pathogenic|uncertain significance
NM_015268.4(DNAJC13):c.217C>T (p.Arg73Cys) single nucleotide variant not specified [RCV004118827] Chr3:132447393 [GRCh38]
Chr3:132166237 [GRCh37]
Chr3:133648927 [NCBI36]
Chr3:3q22.1		 uncertain significance|not provided
NM_015268.3(DNAJC13):c.1984G>A (p.Ala662Thr) single nucleotide variant Malignant melanoma [RCV000065841] Chr3:132466314 [GRCh38]
Chr3:132185158 [GRCh37]
Chr3:133667848 [NCBI36]
Chr3:3q22.1		 not provided
NM_015268.3(DNAJC13):c.4558C>T (p.Leu1520Phe) single nucleotide variant Malignant melanoma [RCV000065842] Chr3:132502310 [GRCh38]
Chr3:132221154 [GRCh37]
Chr3:133703844 [NCBI36]
Chr3:3q22.1		 not provided
NM_015268.4(DNAJC13):c.5450C>T (p.Ser1817Phe) single nucleotide variant not specified [RCV004273767] Chr3:132514635 [GRCh38]
Chr3:132233479 [GRCh37]
Chr3:133716169 [NCBI36]
Chr3:3q22.1		 uncertain significance|not provided
NM_015268.3(DNAJC13):c.3268-1454A>G single nucleotide variant Lung cancer [RCV000092920] Chr3:132486844 [GRCh38]
Chr3:132205688 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4199G>A (p.Arg1400Gln) single nucleotide variant not provided [RCV000999551] Chr3:132499168 [GRCh38]
Chr3:132218012 [GRCh37]
Chr3:3q22.1		 likely benign|uncertain significance
NM_015268.4(DNAJC13):c.6545G>A (p.Arg2182His) single nucleotide variant not provided [RCV000999552] Chr3:132531017 [GRCh38]
Chr3:132249861 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.246T>G (p.Thr82=) single nucleotide variant not provided [RCV001655917]|not specified [RCV001580128] Chr3:132447422 [GRCh38]
Chr3:132166266 [GRCh37]
Chr3:3q22.1		 benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24		 pathogenic
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
NM_015268.4(DNAJC13):c.6626-6T>C single nucleotide variant not provided [RCV000958707] Chr3:132538170 [GRCh38]
Chr3:132257014 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1059A>G (p.Glu353=) single nucleotide variant not provided [RCV000415845] Chr3:132456361 [GRCh38]
Chr3:132175205 [GRCh37]
Chr3:3q22.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_015268.4(DNAJC13):c.3337A>G (p.Asn1113Asp) single nucleotide variant not specified [RCV004320832] Chr3:132488367 [GRCh38]
Chr3:132207211 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2360C>T (p.Thr787Ile) single nucleotide variant not specified [RCV004299790] Chr3:132475000 [GRCh38]
Chr3:132193844 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.422A>T (p.Asn141Ile) single nucleotide variant not specified [RCV004285834] Chr3:132450732 [GRCh38]
Chr3:132169576 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2365G>C (p.Glu789Gln) single nucleotide variant not specified [RCV004316957] Chr3:132475005 [GRCh38]
Chr3:132193849 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.730T>C (p.Ser244Pro) single nucleotide variant not specified [RCV004308515] Chr3:132453490 [GRCh38]
Chr3:132172334 [GRCh37]
Chr3:3q22.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_015268.4(DNAJC13):c.6133G>A (p.Val2045Ile) single nucleotide variant not specified [RCV004309773] Chr3:132525682 [GRCh38]
Chr3:132244526 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5153T>C (p.Ile1718Thr) single nucleotide variant not specified [RCV004313370] Chr3:132511104 [GRCh38]
Chr3:132229948 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.160A>G (p.Ile54Val) single nucleotide variant not specified [RCV004325323] Chr3:132447336 [GRCh38]
Chr3:132166180 [GRCh37]
Chr3:3q22.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_015268.4(DNAJC13):c.1349+102C>T single nucleotide variant not provided [RCV001679066] Chr3:132456934 [GRCh38]
Chr3:132175778 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3825+288T>C single nucleotide variant not provided [RCV001667226] Chr3:132492903 [GRCh38]
Chr3:132211747 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2064+176T>A single nucleotide variant not provided [RCV001533867] Chr3:132466570 [GRCh38]
Chr3:132185414 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2550-9A>T single nucleotide variant not provided [RCV001673223]|not specified [RCV001579831] Chr3:132477972 [GRCh38]
Chr3:132477972..132477973 [GRCh38]
Chr3:132196816 [GRCh37]
Chr3:132196816..132196817 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=) single nucleotide variant DNAJC13-related disorder [RCV003931222]|not provided [RCV001579983]|not specified [RCV001727912] Chr3:132447458 [GRCh38]
Chr3:132166302 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.5560+4A>T single nucleotide variant DNAJC13-related disorder [RCV003983986]|not provided [RCV001685546]|not specified [RCV001580135] Chr3:132516500 [GRCh38]
Chr3:132235344 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5486-280A>G single nucleotide variant not provided [RCV001691758] Chr3:132516142 [GRCh38]
Chr3:132516142..132516143 [GRCh38]
Chr3:132234986 [GRCh37]
Chr3:132234986..132234987 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-249C>G single nucleotide variant not provided [RCV001668089] Chr3:132434289 [GRCh38]
Chr3:132153133 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1558-243C>T single nucleotide variant not provided [RCV001690303] Chr3:132460807 [GRCh38]
Chr3:132179651 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-108_2292-106del deletion not provided [RCV001725329] Chr3:132474815..132474817 [GRCh38]
Chr3:132193659..132193661 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3594T>C (p.Thr1198=) single nucleotide variant not provided [RCV000949900] Chr3:132491022 [GRCh38]
Chr3:132209866 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.4305C>T (p.Leu1435=) single nucleotide variant DNAJC13-related disorder [RCV004740486]|not provided [RCV000884404] Chr3:132499274 [GRCh38]
Chr3:132218118 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.2550-10T>A single nucleotide variant not provided [RCV000898824] Chr3:132477971 [GRCh38]
Chr3:132196815 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.6675G>A (p.Met2225Ile) single nucleotide variant DNAJC13-related disorder [RCV003925934]|not provided [RCV000950660] Chr3:132538225 [GRCh38]
Chr3:132257069 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.108T>C (p.Thr36=) single nucleotide variant not provided [RCV000923837] Chr3:132446514 [GRCh38]
Chr3:132165358 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=) single nucleotide variant not provided [RCV000881123] Chr3:132495088 [GRCh38]
Chr3:132213932 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4546C>T (p.Arg1516Cys) single nucleotide variant DNAJC13-related disorder [RCV003928422]|not provided [RCV000966883] Chr3:132502298 [GRCh38]
Chr3:132221142 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5385+7G>A single nucleotide variant DNAJC13-related disorder [RCV003928423]|not provided [RCV000966884] Chr3:132513106 [GRCh38]
Chr3:132231950 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2736G>A (p.Arg912=) single nucleotide variant not provided [RCV000948268] Chr3:132479253 [GRCh38]
Chr3:132198097 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4813A>G (p.Ile1605Val) single nucleotide variant not provided [RCV000879641] Chr3:132503310 [GRCh38]
Chr3:132222154 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1450-9dup duplication not provided [RCV000946764] Chr3:132460240..132460241 [GRCh38]
Chr3:132179084..132179085 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2336A>G (p.Lys779Arg) single nucleotide variant not provided [RCV000897110] Chr3:132474976 [GRCh38]
Chr3:132193820 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5979C>T (p.Ala1993=) single nucleotide variant not provided [RCV000958706] Chr3:132523632 [GRCh38]
Chr3:132242476 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr) single nucleotide variant DNAJC13-related disorder [RCV003920527]|not provided [RCV000881124] Chr3:132523168 [GRCh38]
Chr3:132242012 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2550-6del deletion not provided [RCV000908777] Chr3:132477972 [GRCh38]
Chr3:132196816 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5983G>C (p.Val1995Leu) single nucleotide variant DNAJC13-related disorder [RCV003930827]|not provided [RCV000892553] Chr3:132523636 [GRCh38]
Chr3:132242480 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.2979+3A>G single nucleotide variant DNAJC13-related disorder [RCV003932866]|not provided [RCV000903514] Chr3:132482333 [GRCh38]
Chr3:132201177 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.932+16del deletion not provided [RCV000946763] Chr3:132454161 [GRCh38]
Chr3:132173005 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.932+15_932+16del deletion not provided [RCV000961038] Chr3:132454161..132454162 [GRCh38]
Chr3:132173005..132173006 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5953T>C (p.Leu1985=) single nucleotide variant not provided [RCV000900812] Chr3:132523606 [GRCh38]
Chr3:132242450 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5886+10A>G single nucleotide variant not provided [RCV000967834] Chr3:132523209 [GRCh38]
Chr3:132242053 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.730T>A (p.Ser244Thr) single nucleotide variant not specified [RCV004309713] Chr3:132453490 [GRCh38]
Chr3:132172334 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His) single nucleotide variant not provided [RCV000960016]|not specified [RCV001727828] Chr3:132499777 [GRCh38]
Chr3:132499777..132499778 [GRCh38]
Chr3:132218621 [GRCh37]
Chr3:132218621..132218622 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5934T>G (p.Leu1978=) single nucleotide variant not provided [RCV000915530] Chr3:132523587 [GRCh38]
Chr3:132242431 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2517T>C (p.Asp839=) single nucleotide variant not provided [RCV000893380] Chr3:132477860 [GRCh38]
Chr3:132196704 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.654T>C (p.Tyr218=) single nucleotide variant not provided [RCV000938567] Chr3:132453414 [GRCh38]
Chr3:132172258 [GRCh37]
Chr3:3q22.1		 likely benign
NC_000003.12:g.(?_132465995)_(132722355_?)dup duplication Nephronophthisis [RCV001032225] Chr3:132184839..132441199 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2710-272C>G single nucleotide variant not provided [RCV001653200] Chr3:132478955 [GRCh38]
Chr3:132197799 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5674-159G>C single nucleotide variant not provided [RCV001686729] Chr3:132522669 [GRCh38]
Chr3:132241513 [GRCh37]
Chr3:3q22.1		 benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
NM_015268.4(DNAJC13):c.2446-272C>T single nucleotide variant not provided [RCV001690361] Chr3:132477517 [GRCh38]
Chr3:132196361 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-206_-13-194del deletion not provided [RCV001616813] Chr3:132434332..132434344 [GRCh38]
Chr3:132153176..132153188 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2980-206C>T single nucleotide variant not provided [RCV001714836] Chr3:132483169 [GRCh38]
Chr3:132202013 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1349+103C>A single nucleotide variant not provided [RCV001637294] Chr3:132456935 [GRCh38]
Chr3:132175779 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1892+257A>G single nucleotide variant not provided [RCV001715896] Chr3:132464074 [GRCh38]
Chr3:132182918 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4341+42C>T single nucleotide variant not provided [RCV001715897] Chr3:132499352 [GRCh38]
Chr3:132218196 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1449+98G>C single nucleotide variant not provided [RCV001715898] Chr3:132457466 [GRCh38]
Chr3:132176310 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-49_-13-48insAG insertion not provided [RCV001715903] Chr3:132434489..132434490 [GRCh38]
Chr3:132153333..132153334 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3826-303A>G single nucleotide variant not provided [RCV001715904] Chr3:132493841 [GRCh38]
Chr3:132212685 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2445+153G>T single nucleotide variant not provided [RCV001715909] Chr3:132475238 [GRCh38]
Chr3:132194082 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3469-86T>A single nucleotide variant not provided [RCV001675537] Chr3:132490811 [GRCh38]
Chr3:132209655 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser) single nucleotide variant DNAJC13-related disorder [RCV003921243]|not provided [RCV001579431]|not specified [RCV001726601] Chr3:132502295 [GRCh38]
Chr3:132221139 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.3651C>T (p.Ala1217=) single nucleotide variant DNAJC13-related disorder [RCV003976017]|not provided [RCV001695857] Chr3:132492441 [GRCh38]
Chr3:132211285 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-109_2292-106del deletion not provided [RCV001667141] Chr3:132474815..132474818 [GRCh38]
Chr3:132193659..132193662 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3942-152del deletion not provided [RCV001693534] Chr3:132494925 [GRCh38]
Chr3:132213769 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.336+111G>A single nucleotide variant not provided [RCV001669069] Chr3:132448050 [GRCh38]
Chr3:132166894 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.537+26dup duplication not provided [RCV001696547] Chr3:132450861..132450862 [GRCh38]
Chr3:132169705..132169706 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5486-222A>C single nucleotide variant not provided [RCV001669128] Chr3:132516200 [GRCh38]
Chr3:132235044 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-140dup duplication not provided [RCV001689378] Chr3:132434384..132434385 [GRCh38]
Chr3:132153228..132153229 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1771-96del deletion not provided [RCV001656746] Chr3:132463600 [GRCh38]
Chr3:132182444 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2875-351T>G single nucleotide variant not provided [RCV001670428] Chr3:132481875 [GRCh38]
Chr3:132200719 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6625+86G>C single nucleotide variant not provided [RCV001541498] Chr3:132531183 [GRCh38]
Chr3:132250027 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.144+209del deletion not provided [RCV001656919] Chr3:132446757 [GRCh38]
Chr3:132165601 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5486-244G>T single nucleotide variant not provided [RCV001667786] Chr3:132516178 [GRCh38]
Chr3:132235022 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1449+179C>T single nucleotide variant not provided [RCV001656977] Chr3:132457547 [GRCh38]
Chr3:132176391 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6240+119C>T single nucleotide variant not provided [RCV001595247] Chr3:132525908 [GRCh38]
Chr3:132244752 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1449+45C>G single nucleotide variant not provided [RCV001540144] Chr3:132457413 [GRCh38]
Chr3:132176257 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) single nucleotide variant Parkinson disease 21 [RCV000987334]|not provided [RCV000887960] Chr3:132494190 [GRCh38]
Chr3:132213034 [GRCh37]
Chr3:3q22.1		 likely benign|conflicting interpretations of pathogenicity
NM_015268.4(DNAJC13):c.2292-6G>A single nucleotide variant not provided [RCV000954403] Chr3:132474926 [GRCh38]
Chr3:132193770 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6150T>G (p.His2050Gln) single nucleotide variant not provided [RCV000909991] Chr3:132525699 [GRCh38]
Chr3:132244543 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr) single nucleotide variant DNAJC13-related disorder [RCV003915826]|not provided [RCV000953203] Chr3:132475009 [GRCh38]
Chr3:132193853 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.6423C>T (p.Leu2141=) single nucleotide variant not provided [RCV000910828] Chr3:132528230 [GRCh38]
Chr3:132247074 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5578C>T (p.Leu1860=) single nucleotide variant not provided [RCV000899126] Chr3:132516721 [GRCh38]
Chr3:132235565 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.4999-8_4999-7del deletion DNAJC13-related disorder [RCV003913032]|not provided [RCV000912525] Chr3:132507227..132507228 [GRCh38]
Chr3:132226071..132226072 [GRCh37]
Chr3:3q22.1		 likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_015268.4(DNAJC13):c.4417-84T>C single nucleotide variant not provided [RCV001715907] Chr3:132500710 [GRCh38]
Chr3:132219554 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.294+167C>T single nucleotide variant not provided [RCV001715931] Chr3:132447637 [GRCh38]
Chr3:132166481 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2445+72T>A single nucleotide variant not provided [RCV001674514] Chr3:132475157 [GRCh38]
Chr3:132194001 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5486-189C>T single nucleotide variant not provided [RCV001639683] Chr3:132516233 [GRCh38]
Chr3:132235077 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3267+79T>C single nucleotide variant not provided [RCV001688399] Chr3:132484751 [GRCh38]
Chr3:132203595 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4020+186C>T single nucleotide variant not provided [RCV001618969] Chr3:132495352 [GRCh38]
Chr3:132214196 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2291+58T>C single nucleotide variant not provided [RCV001672216] Chr3:132473285 [GRCh38]
Chr3:132192129 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4885-18G>A single nucleotide variant not provided [RCV001713059]|not specified [RCV001579874] Chr3:132505284 [GRCh38]
Chr3:132224128 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-266G>C single nucleotide variant not provided [RCV001678206] Chr3:132434272 [GRCh38]
Chr3:132153116 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1770+127T>G single nucleotide variant not provided [RCV001686093] Chr3:132462650 [GRCh38]
Chr3:132181494 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1558-207_1558-199del deletion not provided [RCV001621550] Chr3:132460843..132460851 [GRCh38]
Chr3:132179687..132179695 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.145-160A>G single nucleotide variant not provided [RCV001657672] Chr3:132447161 [GRCh38]
Chr3:132166005 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.69-141A>T single nucleotide variant not provided [RCV001614502] Chr3:132446334 [GRCh38]
Chr3:132446334..132446335 [GRCh38]
Chr3:132165178 [GRCh37]
Chr3:132165178..132165179 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2710-14A>G single nucleotide variant not provided [RCV001670584] Chr3:132479213 [GRCh38]
Chr3:132198057 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5674-162C>T single nucleotide variant not provided [RCV001656554] Chr3:132522666 [GRCh38]
Chr3:132241510 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2208+30G>A single nucleotide variant not provided [RCV001718443] Chr3:132467343 [GRCh38]
Chr3:132186187 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5673+330G>A single nucleotide variant not provided [RCV001656561] Chr3:132517146 [GRCh38]
Chr3:132235990 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5485+158G>A single nucleotide variant not provided [RCV001676723] Chr3:132514828 [GRCh38]
Chr3:132233672 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.336+232C>T single nucleotide variant not provided [RCV001715899] Chr3:132448171 [GRCh38]
Chr3:132167015 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.933-320A>G single nucleotide variant not provided [RCV001658451] Chr3:132455915 [GRCh38]
Chr3:132174759 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4885-163T>C single nucleotide variant not provided [RCV001598924] Chr3:132505139 [GRCh38]
Chr3:132223983 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.*293A>G single nucleotide variant not provided [RCV001674385] Chr3:132538575 [GRCh38]
Chr3:132538575..132538576 [GRCh38]
Chr3:132257419 [GRCh37]
Chr3:132257419..132257420 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5116-203A>G single nucleotide variant not provided [RCV001617816] Chr3:132510864 [GRCh38]
Chr3:132229708 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-107C>T single nucleotide variant not provided [RCV001612003] Chr3:132474825 [GRCh38]
Chr3:132193669 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-277del deletion not provided [RCV001693337] Chr3:132474649 [GRCh38]
Chr3:132193493 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.538-34A>T single nucleotide variant not provided [RCV001708511] Chr3:132453264 [GRCh38]
Chr3:132172108 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5673+134C>G single nucleotide variant not provided [RCV001648020] Chr3:132516950 [GRCh38]
Chr3:132235794 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-316dup duplication not provided [RCV001693383] Chr3:132474614..132474615 [GRCh38]
Chr3:132193458..132193459 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4156+264G>A single nucleotide variant not provided [RCV001648135] Chr3:132496927 [GRCh38]
Chr3:132215771 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6061-48G>A single nucleotide variant not provided [RCV001652155] Chr3:132525562 [GRCh38]
Chr3:132244406 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1557+194T>C single nucleotide variant not provided [RCV001666067] Chr3:132460551 [GRCh38]
Chr3:132179395 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-107_2292-106del deletion not provided [RCV001680358] Chr3:132474815..132474816 [GRCh38]
Chr3:132193659..132193660 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4537-41del deletion not provided [RCV001694612] Chr3:132502233 [GRCh38]
Chr3:132221077 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-106del deletion not provided [RCV001641796] Chr3:132474815 [GRCh38]
Chr3:132193659 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4387G>T (p.Ala1463Ser) single nucleotide variant not provided [RCV001619990]|not specified [RCV001579441] Chr3:132499779 [GRCh38]
Chr3:132218623 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys) single nucleotide variant not provided [RCV001579691]|not specified [RCV001726604] Chr3:132507256 [GRCh38]
Chr3:132507256..132507257 [GRCh38]
Chr3:132226100 [GRCh37]
Chr3:132226100..132226101 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.6240+120G>A single nucleotide variant not provided [RCV001666364] Chr3:132525909 [GRCh38]
Chr3:132244753 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-89_2292-88dup duplication not provided [RCV001725328] Chr3:132474826..132474827 [GRCh38]
Chr3:132193670..132193671 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5293+22C>T single nucleotide variant not provided [RCV001692891] Chr3:132511266 [GRCh38]
Chr3:132230110 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2627C>G (p.Ala876Gly) single nucleotide variant not provided [RCV000999550] Chr3:132478058 [GRCh38]
Chr3:132196902 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4416+231T>C single nucleotide variant not provided [RCV001609520] Chr3:132500039 [GRCh38]
Chr3:132218883 [GRCh37]
Chr3:3q22.1		 benign
GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3 copy number gain Intellectual disability [RCV001250258] Chr3:131507971..132143591 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.68+150A>G single nucleotide variant not provided [RCV001641741] Chr3:132434768 [GRCh38]
Chr3:132153612 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4416+172T>C single nucleotide variant not provided [RCV001536705] Chr3:132499980 [GRCh38]
Chr3:132218824 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4157-13T>G single nucleotide variant not provided [RCV001579813]|not specified [RCV001727910] Chr3:132499113 [GRCh38]
Chr3:132217957 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.5386-139T>A single nucleotide variant not provided [RCV001536267] Chr3:132514432 [GRCh38]
Chr3:132233276 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2529A>C (p.Glu843Asp) single nucleotide variant not provided [RCV001326863] Chr3:132477872 [GRCh38]
Chr3:132196716 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4157-267G>A single nucleotide variant not provided [RCV001540947] Chr3:132498859 [GRCh38]
Chr3:132217703 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.744+47C>T single nucleotide variant not provided [RCV001541617] Chr3:132453551 [GRCh38]
Chr3:132172395 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2292-106C>T single nucleotide variant not provided [RCV001617135] Chr3:132474826 [GRCh38]
Chr3:132193670 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4342-135dup duplication not provided [RCV001617452] Chr3:132499597..132499598 [GRCh38]
Chr3:132218441..132218442 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2549+25G>A single nucleotide variant not provided [RCV001617587] Chr3:132477917 [GRCh38]
Chr3:132196761 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6061-141C>T single nucleotide variant not provided [RCV001667195] Chr3:132525469 [GRCh38]
Chr3:132244313 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.4157-174G>A single nucleotide variant not provided [RCV001684822] Chr3:132498952 [GRCh38]
Chr3:132217796 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.537+14T>A single nucleotide variant not provided [RCV001684578] Chr3:132450861 [GRCh38]
Chr3:132169705 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5485+198G>C single nucleotide variant not provided [RCV001653306] Chr3:132514868 [GRCh38]
Chr3:132233712 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1770+285T>C single nucleotide variant not provided [RCV001687517] Chr3:132462808 [GRCh38]
Chr3:132181652 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3422+258A>G single nucleotide variant not provided [RCV001617593] Chr3:132488710 [GRCh38]
Chr3:132207554 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1557+34T>C single nucleotide variant not provided [RCV001641085] Chr3:132460391 [GRCh38]
Chr3:132179235 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.-13-317dup duplication not provided [RCV001709974] Chr3:132434209..132434210 [GRCh38]
Chr3:132153053..132153054 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.932+280G>A single nucleotide variant not provided [RCV001671972] Chr3:132454437 [GRCh38]
Chr3:132173281 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2710-76T>G single nucleotide variant not provided [RCV001673987] Chr3:132479151 [GRCh38]
Chr3:132197995 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3267+167C>T single nucleotide variant not provided [RCV001715915] Chr3:132484839 [GRCh38]
Chr3:132203683 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.2772+23C>T single nucleotide variant not provided [RCV001647938] Chr3:132479312 [GRCh38]
Chr3:132198156 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.69-264T>A single nucleotide variant not provided [RCV001674986] Chr3:132446211 [GRCh38]
Chr3:132165055 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3182+28T>A single nucleotide variant not provided [RCV001649875] Chr3:132483605 [GRCh38]
Chr3:132202449 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3422+72T>C single nucleotide variant not provided [RCV001714773] Chr3:132488524 [GRCh38]
Chr3:132207368 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5486-219A>G single nucleotide variant not provided [RCV001616913] Chr3:132516203 [GRCh38]
Chr3:132235047 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.6060+85C>T single nucleotide variant not provided [RCV001708927] Chr3:132523798 [GRCh38]
Chr3:132242642 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3826-320dup duplication not provided [RCV001619159] Chr3:132493821..132493822 [GRCh38]
Chr3:132212665..132212666 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met) single nucleotide variant not provided [RCV001725901]|not specified [RCV002246465] Chr3:132522838 [GRCh38]
Chr3:132241682 [GRCh37]
Chr3:3q22.1		 likely benign|uncertain significance
NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val) single nucleotide variant Vascular dementia [RCV002051764] Chr3:132456338 [GRCh38]
Chr3:132175182 [GRCh37]
Chr3:3q22.1		 uncertain significance
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_015268.4(DNAJC13):c.5007T>G (p.Cys1669Trp) single nucleotide variant not specified [RCV004311927] Chr3:132507245 [GRCh38]
Chr3:132226089 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3761A>G (p.Asn1254Ser) single nucleotide variant not specified [RCV004292163] Chr3:132492551 [GRCh38]
Chr3:132211395 [GRCh37]
Chr3:3q22.1		 uncertain significance
GRCh37/hg19 3q22.1(chr3:132080316-132705445)x3 copy number gain not provided [RCV002474722] Chr3:132080316..132705445 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.857G>A (p.Cys286Tyr) single nucleotide variant not specified [RCV004110525] Chr3:132454082 [GRCh38]
Chr3:132172926 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5137A>G (p.Ser1713Gly) single nucleotide variant not specified [RCV004230963] Chr3:132511088 [GRCh38]
Chr3:132229932 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6106A>G (p.Ser2036Gly) single nucleotide variant not specified [RCV004139308] Chr3:132525655 [GRCh38]
Chr3:132244499 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5152A>G (p.Ile1718Val) single nucleotide variant not specified [RCV004197900] Chr3:132511103 [GRCh38]
Chr3:132229947 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6638C>A (p.Ala2213Asp) single nucleotide variant not specified [RCV004145450] Chr3:132538188 [GRCh38]
Chr3:132257032 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5312T>C (p.Ile1771Thr) single nucleotide variant not specified [RCV004208301] Chr3:132513026 [GRCh38]
Chr3:132231870 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2062A>G (p.Met688Val) single nucleotide variant not provided [RCV004696247]|not specified [RCV004229903] Chr3:132466392 [GRCh38]
Chr3:132185236 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4853C>T (p.Ala1618Val) single nucleotide variant not specified [RCV004202686] Chr3:132503350 [GRCh38]
Chr3:132222194 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3853G>T (p.Ala1285Ser) single nucleotide variant not specified [RCV004128001] Chr3:132494171 [GRCh38]
Chr3:132213015 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2479A>G (p.Ile827Val) single nucleotide variant not specified [RCV004141843] Chr3:132477822 [GRCh38]
Chr3:132196666 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.784T>G (p.Leu262Val) single nucleotide variant not specified [RCV004122799] Chr3:132453638 [GRCh38]
Chr3:132172482 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5395A>G (p.Ile1799Val) single nucleotide variant not specified [RCV004134839] Chr3:132514580 [GRCh38]
Chr3:132233424 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.20A>G (p.Asn7Ser) single nucleotide variant not specified [RCV004210088] Chr3:132434570 [GRCh38]
Chr3:132153414 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.289G>A (p.Ala97Thr) single nucleotide variant not specified [RCV004202360] Chr3:132447465 [GRCh38]
Chr3:132166309 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3002G>C (p.Gly1001Ala) single nucleotide variant not specified [RCV004210345] Chr3:132483397 [GRCh38]
Chr3:132202241 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2784G>C (p.Lys928Asn) single nucleotide variant not specified [RCV004145836] Chr3:132480380 [GRCh38]
Chr3:132199224 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5540T>C (p.Ile1847Thr) single nucleotide variant not specified [RCV004106938] Chr3:132516476 [GRCh38]
Chr3:132235320 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1831C>A (p.Pro611Thr) single nucleotide variant not specified [RCV004231399] Chr3:132463756 [GRCh38]
Chr3:132182600 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5796T>G (p.Asp1932Glu) single nucleotide variant not specified [RCV004189401] Chr3:132522950 [GRCh38]
Chr3:132241794 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1226C>G (p.Thr409Arg) single nucleotide variant not specified [RCV004156011] Chr3:132456709 [GRCh38]
Chr3:132175553 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.217C>G (p.Arg73Gly) single nucleotide variant not specified [RCV004107092] Chr3:132447393 [GRCh38]
Chr3:132166237 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.101C>T (p.Ala34Val) single nucleotide variant not specified [RCV004130852] Chr3:132446507 [GRCh38]
Chr3:132165351 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.99T>A (p.His33Gln) single nucleotide variant not specified [RCV004178636] Chr3:132446505 [GRCh38]
Chr3:132165349 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3587T>A (p.Phe1196Tyr) single nucleotide variant not specified [RCV004099366] Chr3:132491015 [GRCh38]
Chr3:132209859 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1361G>A (p.Arg454His) single nucleotide variant not specified [RCV004074956] Chr3:132457280 [GRCh38]
Chr3:132176124 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6163A>C (p.Ile2055Leu) single nucleotide variant DNAJC13-related disorder [RCV003420475]|not specified [RCV004177845] Chr3:132525712 [GRCh38]
Chr3:132244556 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4792G>A (p.Ala1598Thr) single nucleotide variant not specified [RCV004083147] Chr3:132503289 [GRCh38]
Chr3:132222133 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1268C>T (p.Ala423Val) single nucleotide variant not specified [RCV004175799] Chr3:132456751 [GRCh38]
Chr3:132175595 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3136C>G (p.Leu1046Val) single nucleotide variant not specified [RCV004218216] Chr3:132483531 [GRCh38]
Chr3:132202375 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4636T>C (p.Tyr1546His) single nucleotide variant not specified [RCV004148793] Chr3:132502388 [GRCh38]
Chr3:132221232 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.3479A>C (p.Gln1160Pro) single nucleotide variant not specified [RCV004103356] Chr3:132490907 [GRCh38]
Chr3:132209751 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2008G>A (p.Val670Ile) single nucleotide variant not specified [RCV004103370] Chr3:132466338 [GRCh38]
Chr3:132185182 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6502C>G (p.Arg2168Gly) single nucleotide variant not specified [RCV004171796] Chr3:132528309 [GRCh38]
Chr3:132247153 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2081T>A (p.Phe694Tyr) single nucleotide variant not specified [RCV004120620] Chr3:132467186 [GRCh38]
Chr3:132186030 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.152A>G (p.Tyr51Cys) single nucleotide variant not specified [RCV004085012] Chr3:132447328 [GRCh38]
Chr3:132166172 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5240C>T (p.Pro1747Leu) single nucleotide variant not specified [RCV004076911] Chr3:132511191 [GRCh38]
Chr3:132230035 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3919A>G (p.Asn1307Asp) single nucleotide variant not specified [RCV004098611] Chr3:132494237 [GRCh38]
Chr3:132213081 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5457A>T (p.Leu1819Phe) single nucleotide variant not specified [RCV004322809] Chr3:132514642 [GRCh38]
Chr3:132233486 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2123C>T (p.Ala708Val) single nucleotide variant not specified [RCV004252189] Chr3:132467228 [GRCh38]
Chr3:132186072 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1952T>G (p.Leu651Trp) single nucleotide variant not specified [RCV004268904] Chr3:132466054 [GRCh38]
Chr3:132184898 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3206G>A (p.Arg1069Gln) single nucleotide variant not specified [RCV004267898] Chr3:132484611 [GRCh38]
Chr3:132203455 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5767C>G (p.His1923Asp) single nucleotide variant not specified [RCV004271712] Chr3:132522921 [GRCh38]
Chr3:132241765 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6181A>T (p.Arg2061Trp) single nucleotide variant not specified [RCV004253200] Chr3:132525730 [GRCh38]
Chr3:132244574 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2498G>A (p.Arg833Lys) single nucleotide variant not provided [RCV003327126] Chr3:132477841 [GRCh38]
Chr3:132196685 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4414C>A (p.Gln1472Lys) single nucleotide variant not specified [RCV004338072] Chr3:132499806 [GRCh38]
Chr3:132218650 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4961A>C (p.Glu1654Ala) single nucleotide variant not specified [RCV004349117] Chr3:132505378 [GRCh38]
Chr3:132224222 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4599G>C (p.Trp1533Cys) single nucleotide variant not specified [RCV004351076] Chr3:132502351 [GRCh38]
Chr3:132221195 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.829C>T (p.Pro277Ser) single nucleotide variant not specified [RCV004360043] Chr3:132453683 [GRCh38]
Chr3:132172527 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5309G>A (p.Cys1770Tyr) single nucleotide variant not specified [RCV004350817] Chr3:132513023 [GRCh38]
Chr3:132231867 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2579G>A (p.Arg860His) single nucleotide variant not specified [RCV004354594] Chr3:132478010 [GRCh38]
Chr3:132196854 [GRCh37]
Chr3:3q22.1		 uncertain significance
GRCh37/hg19 3q22.1(chr3:132099645-132381259)x3 copy number gain not provided [RCV003484145] Chr3:132099645..132381259 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6169G>T (p.Ala2057Ser) single nucleotide variant not provided [RCV003427391] Chr3:132525718 [GRCh38]
Chr3:132244562 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.2940C>T (p.Asn980=) single nucleotide variant not provided [RCV003427388] Chr3:132482291 [GRCh38]
Chr3:132201135 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5071A>G (p.Ile1691Val) single nucleotide variant DNAJC13-related disorder [RCV003397259] Chr3:132507309 [GRCh38]
Chr3:132226153 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6111A>G (p.Ala2037=) single nucleotide variant not provided [RCV003427390] Chr3:132525660 [GRCh38]
Chr3:132244504 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.98A>G (p.His33Arg) single nucleotide variant DNAJC13-related disorder [RCV003397623] Chr3:132446504 [GRCh38]
Chr3:132165348 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.197C>T (p.Thr66Met) single nucleotide variant DNAJC13-related disorder [RCV003408712] Chr3:132447373 [GRCh38]
Chr3:132166217 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5081G>A (p.Arg1694Lys) single nucleotide variant not provided [RCV003427389] Chr3:132507319 [GRCh38]
Chr3:132226163 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2708G>A (p.Arg903Lys) single nucleotide variant DNAJC13-related disorder [RCV003929133]|not provided [RCV003427387] Chr3:132478139 [GRCh38]
Chr3:132196983 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.6509T>G (p.Leu2170Trp) single nucleotide variant DNAJC13-related disorder [RCV003919188]|not provided [RCV003427392] Chr3:132528316 [GRCh38]
Chr3:132247160 [GRCh37]
Chr3:3q22.1		 benign|likely benign
NM_015268.4(DNAJC13):c.2773-4C>T single nucleotide variant DNAJC13-related disorder [RCV003949469] Chr3:132480365 [GRCh38]
Chr3:132199209 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.4262C>T (p.Ala1421Val) single nucleotide variant DNAJC13-related disorder [RCV003972257] Chr3:132499231 [GRCh38]
Chr3:132218075 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.1080G>A (p.Arg360=) single nucleotide variant DNAJC13-related disorder [RCV003961940] Chr3:132456382 [GRCh38]
Chr3:132175226 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5349T>C (p.Val1783=) single nucleotide variant DNAJC13-related disorder [RCV003944707] Chr3:132513063 [GRCh38]
Chr3:132231907 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5646G>C (p.Met1882Ile) single nucleotide variant DNAJC13-related disorder [RCV003936887] Chr3:132516789 [GRCh38]
Chr3:132235633 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.4547G>A (p.Arg1516His) single nucleotide variant DNAJC13-related disorder [RCV003931377]|not provided [RCV004598288] Chr3:132502299 [GRCh38]
Chr3:132221143 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5983G>A (p.Val1995Ile) single nucleotide variant DNAJC13-related disorder [RCV003904736] Chr3:132523636 [GRCh38]
Chr3:132242480 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.873A>G (p.Pro291=) single nucleotide variant DNAJC13-related disorder [RCV003911653] Chr3:132454098 [GRCh38]
Chr3:132172942 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.1173A>T (p.Thr391=) single nucleotide variant DNAJC13-related disorder [RCV003934349] Chr3:132456574 [GRCh38]
Chr3:132175418 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.6240+4T>C single nucleotide variant not provided [RCV003885879] Chr3:132525793 [GRCh38]
Chr3:132244637 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.5202G>A (p.Ala1734=) single nucleotide variant DNAJC13-related disorder [RCV003981454] Chr3:132511153 [GRCh38]
Chr3:132229997 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.2550-10dup duplication DNAJC13-related disorder [RCV003982319] Chr3:132477961..132477962 [GRCh38]
Chr3:132196805..132196806 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.3585A>G (p.Glu1195=) single nucleotide variant DNAJC13-related disorder [RCV003946828] Chr3:132491013 [GRCh38]
Chr3:132209857 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.1042A>G (p.Met348Val) single nucleotide variant not specified [RCV004379337] Chr3:132456344 [GRCh38]
Chr3:132175188 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.718G>A (p.Val240Ile) single nucleotide variant not specified [RCV004379360] Chr3:132453478 [GRCh38]
Chr3:132172322 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.715G>T (p.Val239Leu) single nucleotide variant not specified [RCV004379359] Chr3:132453475 [GRCh38]
Chr3:132172319 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6458C>T (p.Ala2153Val) single nucleotide variant not specified [RCV004379358] Chr3:132528265 [GRCh38]
Chr3:132247109 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5722A>G (p.Met1908Val) single nucleotide variant not specified [RCV004379356] Chr3:132522876 [GRCh38]
Chr3:132241720 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.472G>A (p.Gly158Arg) single nucleotide variant not specified [RCV004379353] Chr3:132450782 [GRCh38]
Chr3:132169626 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4013A>G (p.Glu1338Gly) single nucleotide variant not specified [RCV004379346] Chr3:132495159 [GRCh38]
Chr3:132214003 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1022A>T (p.Gln341Leu) single nucleotide variant not specified [RCV004379336] Chr3:132456324 [GRCh38]
Chr3:132175168 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1264A>G (p.Asn422Asp) single nucleotide variant not specified [RCV004379338] Chr3:132456747 [GRCh38]
Chr3:132175591 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.536T>C (p.Leu179Ser) single nucleotide variant not specified [RCV004379354] Chr3:132450846 [GRCh38]
Chr3:132169690 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.467T>C (p.Ile156Thr) single nucleotide variant not specified [RCV004379352] Chr3:132450777 [GRCh38]
Chr3:132169621 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4516C>T (p.Arg1506Trp) single nucleotide variant not specified [RCV004379350] Chr3:132500893 [GRCh38]
Chr3:132219737 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4267A>G (p.Thr1423Ala) single nucleotide variant not specified [RCV004379347] Chr3:132499236 [GRCh38]
Chr3:132218080 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.259A>G (p.Thr87Ala) single nucleotide variant not specified [RCV004379341] Chr3:132447435 [GRCh38]
Chr3:132166279 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2711G>A (p.Cys904Tyr) single nucleotide variant not specified [RCV004379342] Chr3:132479228 [GRCh38]
Chr3:132198072 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.460A>G (p.Arg154Gly) single nucleotide variant not specified [RCV004379351] Chr3:132450770 [GRCh38]
Chr3:132169614 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.394G>T (p.Val132Leu) single nucleotide variant not specified [RCV004379345] Chr3:132450704 [GRCh38]
Chr3:132169548 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3498T>A (p.Ser1166Arg) single nucleotide variant not specified [RCV004379344] Chr3:132490926 [GRCh38]
Chr3:132209770 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4375G>A (p.Val1459Ile) single nucleotide variant not specified [RCV004379348] Chr3:132499767 [GRCh38]
Chr3:132218611 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.325A>G (p.Ile109Val) single nucleotide variant not specified [RCV004379343] Chr3:132447928 [GRCh38]
Chr3:132166772 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.914A>G (p.Lys305Arg) single nucleotide variant not specified [RCV004379362] Chr3:132454139 [GRCh38]
Chr3:132172983 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.788T>C (p.Val263Ala) single nucleotide variant not specified [RCV004379361] Chr3:132453642 [GRCh38]
Chr3:132172486 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4514G>C (p.Cys1505Ser) single nucleotide variant not specified [RCV004379349] Chr3:132500891 [GRCh38]
Chr3:132219735 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6218T>C (p.Ile2073Thr) single nucleotide variant not specified [RCV004379357] Chr3:132525767 [GRCh38]
Chr3:132244611 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5500C>G (p.Leu1834Val) single nucleotide variant not specified [RCV004379355] Chr3:132516436 [GRCh38]
Chr3:132235280 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2294T>C (p.Phe765Ser) single nucleotide variant not specified [RCV004379340] Chr3:132474934 [GRCh38]
Chr3:132193778 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1270G>A (p.Glu424Lys) single nucleotide variant not specified [RCV004379339] Chr3:132456753 [GRCh38]
Chr3:132175597 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1376T>C (p.Val459Ala) single nucleotide variant not specified [RCV004622178] Chr3:132457295 [GRCh38]
Chr3:132176139 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.511A>G (p.Ile171Val) single nucleotide variant not specified [RCV004622184] Chr3:132450821 [GRCh38]
Chr3:132169665 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5908G>A (p.Val1970Met) single nucleotide variant not specified [RCV004622186] Chr3:132523561 [GRCh38]
Chr3:132242405 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6109G>A (p.Ala2037Thr) single nucleotide variant not specified [RCV004622188] Chr3:132525658 [GRCh38]
Chr3:132244502 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.5003A>T (p.Asp1668Val) single nucleotide variant not specified [RCV004622189] Chr3:132507241 [GRCh38]
Chr3:132226085 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4900A>G (p.Asn1634Asp) single nucleotide variant not specified [RCV004622192] Chr3:132505317 [GRCh38]
Chr3:132224161 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1345C>G (p.Pro449Ala) single nucleotide variant not specified [RCV004622180] Chr3:132456828 [GRCh38]
Chr3:132175672 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2922G>T (p.Lys974Asn) single nucleotide variant not specified [RCV004622181] Chr3:132482273 [GRCh38]
Chr3:132201117 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2237G>A (p.Arg746Gln) single nucleotide variant not specified [RCV004622190] Chr3:132473173 [GRCh38]
Chr3:132192017 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3125A>G (p.Asp1042Gly) single nucleotide variant not specified [RCV004622191] Chr3:132483520 [GRCh38]
Chr3:132202364 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2762T>C (p.Ile921Thr) single nucleotide variant not specified [RCV004622195] Chr3:132479279 [GRCh38]
Chr3:132198123 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2172G>A (p.Met724Ile) single nucleotide variant not specified [RCV004622183] Chr3:132467277 [GRCh38]
Chr3:132186121 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6137C>T (p.Pro2046Leu) single nucleotide variant not specified [RCV004622185] Chr3:132525686 [GRCh38]
Chr3:132244530 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4549G>T (p.Val1517Leu) single nucleotide variant not specified [RCV004622198] Chr3:132502301 [GRCh38]
Chr3:132221145 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.6712G>C (p.Asp2238His) single nucleotide variant not specified [RCV004624182] Chr3:132538262 [GRCh38]
Chr3:132257106 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3067A>G (p.Ile1023Val) single nucleotide variant not specified [RCV004624183] Chr3:132483462 [GRCh38]
Chr3:132202306 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.664C>T (p.Arg222Cys) single nucleotide variant not specified [RCV004624184] Chr3:132453424 [GRCh38]
Chr3:132172268 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.3205C>T (p.Arg1069Trp) single nucleotide variant not specified [RCV004624185] Chr3:132484610 [GRCh38]
Chr3:132203454 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1671G>T (p.Glu557Asp) single nucleotide variant not specified [RCV004622196] Chr3:132461163 [GRCh38]
Chr3:132180007 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4990A>T (p.Ile1664Phe) single nucleotide variant not specified [RCV004622199] Chr3:132505407 [GRCh38]
Chr3:132224251 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.*10G>A single nucleotide variant DNAJC13-related disorder [RCV004739744] Chr3:132538292 [GRCh38]
Chr3:132257136 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.5516C>T (p.Ala1839Val) single nucleotide variant DNAJC13-related disorder [RCV004740218] Chr3:132516452 [GRCh38]
Chr3:132235296 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.2021A>C (p.Asp674Ala) single nucleotide variant DNAJC13-related disorder [RCV004739075] Chr3:132466351 [GRCh38]
Chr3:132185195 [GRCh37]
Chr3:3q22.1		 likely benign
NM_015268.4(DNAJC13):c.745-5dup duplication DNAJC13-related disorder [RCV004739236] Chr3:132453588..132453589 [GRCh38]
Chr3:132172432..132172433 [GRCh37]
Chr3:3q22.1		 benign
NM_015268.4(DNAJC13):c.3248G>C (p.Cys1083Ser) single nucleotide variant DNAJC13-related disorder [RCV004728232] Chr3:132484653 [GRCh38]
Chr3:132203497 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.548C>T (p.Ala183Val) single nucleotide variant DNAJC13-related disorder [RCV004739769] Chr3:132453308 [GRCh38]
Chr3:132172152 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.4661A>T (p.Tyr1554Phe) single nucleotide variant not specified [RCV004622197] Chr3:132502413 [GRCh38]
Chr3:132221257 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.604A>G (p.Ile202Val) single nucleotide variant not specified [RCV004622179] Chr3:132453364 [GRCh38]
Chr3:132172208 [GRCh37]
Chr3:3q22.1		 uncertain significance
NM_015268.4(DNAJC13):c.1936G>T (p.Ala646Ser) single nucleotide variant not specified [RCV004622187] Chr3:132466038 [GRCh38]
Chr3:132184882 [GRCh37]
Chr3:3q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1086
Count of miRNA genes:708
Interacting mature miRNAs:800
Transcripts:ENST00000260818, ENST00000463038, ENST00000464766, ENST00000471925, ENST00000486798, ENST00000506813, ENST00000509279, ENST00000513822
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407336647GWAS985623_Hmean corpuscular hemoglobin concentration QTL GWAS985623 (human)6e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)3132438585132438586Human
407292871GWAS941847_Hlow density lipoprotein cholesterol measurement QTL GWAS941847 (human)4e-30low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132465147132465148Human
407337541GWAS986517_Hneutrophil count QTL GWAS986517 (human)9e-09neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)3132532106132532107Human
406975173GWAS624149_Htotal iron binding capacity QTL GWAS624149 (human)0.0000008total iron binding capacity3132417596132417597Human
407016907GWAS665883_Hurate measurement QTL GWAS665883 (human)1e-09urate measurementblood uric acid level (CMO:0000501)3132469319132469320Human
407383873GWAS1032849_Hobsolete_red blood cell distribution width QTL GWAS1032849 (human)4e-38obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
406963400GWAS612376_Hlow density lipoprotein cholesterol measurement QTL GWAS612376 (human)1e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132490359132490360Human
407323726GWAS972702_Hlow density lipoprotein cholesterol measurement QTL GWAS972702 (human)2e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132498859132498860Human
407262543GWAS911519_Hbrain measurement QTL GWAS911519 (human)1e-11brain measurementbrain measurement (CMO:0000911)3132507256132507257Human
407288522GWAS937498_Hserum albumin measurement QTL GWAS937498 (human)7e-15serum albumin measurementserum albumin level (CMO:0000550)3132498859132498860Human
407005391GWAS654367_Hmean corpuscular hemoglobin QTL GWAS654367 (human)2e-33mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)3132507256132507257Human
406953295GWAS602271_Heducational attainment QTL GWAS602271 (human)8e-08educational attainment3132513479132513480Human
406953294GWAS602270_Heducational attainment QTL GWAS602270 (human)7e-09educational attainment3132504385132504386Human
407310039GWAS959015_Hlow density lipoprotein cholesterol measurement QTL GWAS959015 (human)4e-36low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132465147132465148Human
407289943GWAS938919_Htotal cholesterol measurement QTL GWAS938919 (human)4e-42total cholesterol measurementblood total cholesterol level (CMO:0000051)3132465147132465148Human
407203159GWAS852135_Hcortical surface area measurement QTL GWAS852135 (human)4e-11cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)3132532106132532107Human
407004497GWAS653473_Hneutrophil count QTL GWAS653473 (human)1e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)3132487447132487448Human
407359826GWAS1008802_Hcreatinine measurement QTL GWAS1008802 (human)1e-08creatinine measurementblood creatinine measurement (CMO:0000767)3132469319132469320Human
407201616GWAS850592_Habdominal fat cell number QTL GWAS850592 (human)0.0000008abdominal fat cell number3132499777132499778Human
406918359GWAS567335_Hlow density lipoprotein cholesterol measurement QTL GWAS567335 (human)8e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132498859132498860Human
406909784GWAS558760_Hlow density lipoprotein cholesterol measurement QTL GWAS558760 (human)0.0000003low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132444356132444357Human
407279710GWAS928686_Htotal cholesterol measurement QTL GWAS928686 (human)1e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)3132507256132507257Human
406909785GWAS558761_Hlow density lipoprotein cholesterol measurement QTL GWAS558761 (human)6e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132444356132444357Human
407257823GWAS906799_Haspartate aminotransferase measurement QTL GWAS906799 (human)2e-16aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3132532097132532098Human
407336028GWAS985004_Huric acid measurement QTL GWAS985004 (human)8e-17uric acid measurementblood uric acid level (CMO:0000501)3132498859132498860Human
407033950GWAS682926_Hmyeloid white cell count QTL GWAS682926 (human)8e-14myeloid white cell countwhite blood cell count (CMO:0000027)3132465682132465683Human
406911326GWAS560302_Hlow density lipoprotein cholesterol measurement QTL GWAS560302 (human)1e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132462976132462977Human
407212647GWAS861623_Htotal cholesterol measurement QTL GWAS861623 (human)4e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)3132422330132422331Human
407309797GWAS958773_Hlow density lipoprotein cholesterol measurement QTL GWAS958773 (human)2e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132507256132507257Human
406939629GWAS588605_Hhemoglobin measurement QTL GWAS588605 (human)7e-17hemoglobin measurementhemoglobin measurement (CMO:0000508)3132507256132507257Human
406923118GWAS572094_Hapolipoprotein B measurement QTL GWAS572094 (human)9e-19apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)3132498859132498860Human
407323880GWAS972856_Hlow density lipoprotein cholesterol measurement QTL GWAS972856 (human)2e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132498859132498860Human
407389688GWAS1038664_Hobsolete_red blood cell distribution width QTL GWAS1038664 (human)1e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132483605132483606Human
407021168GWAS670144_Hurate measurement QTL GWAS670144 (human)0.0000001urate measurementblood uric acid level (CMO:0000501)3132469319132469320Human
407031664GWAS680640_Hmean corpuscular volume QTL GWAS680640 (human)2e-27mean corpuscular volumemean corpuscular volume (CMO:0000038)3132507256132507257Human
406978549GWAS627525_Hhematocrit QTL GWAS627525 (human)5e-09hematocrithematocrit (CMO:0000037)3132487241132487242Human
407256318GWAS905294_Hglomerular filtration rate QTL GWAS905294 (human)1e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)3132485966132485967Human
406954363GWAS603339_HC-C motif chemokine 19 measurement QTL GWAS603339 (human)8e-13C-C motif chemokine 19 measurement3132479151132479152Human
407001081GWAS650057_Hsex hormone-binding globulin measurement QTL GWAS650057 (human)2e-08sex hormone-binding globulin measurement3132479151132479152Human
407048195GWAS697171_Hlow density lipoprotein cholesterol measurement QTL GWAS697171 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132444356132444357Human
407069058GWAS718034_Htotal cholesterol measurement QTL GWAS718034 (human)0.0000005total cholesterol measurementblood total cholesterol level (CMO:0000051)3132444356132444357Human
406903809GWAS552785_Htotal cholesterol measurement QTL GWAS552785 (human)0.000001total cholesterol measurementblood total cholesterol level (CMO:0000051)3132534874132534875Human
407069057GWAS718033_Htotal cholesterol measurement QTL GWAS718033 (human)0.0000006total cholesterol measurementblood total cholesterol level (CMO:0000051)3132444356132444357Human
407008384GWAS657360_Hneutrophil count QTL GWAS657360 (human)1e-13neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)3132483605132483606Human
406954372GWAS603348_HC-C motif chemokine 21 measurement QTL GWAS603348 (human)8e-122C-C motif chemokine 21 measurement3132500710132500711Human
407258624GWAS907600_Hglomerular filtration rate QTL GWAS907600 (human)9e-15glomerular filtration rateglomerular filtration rate (CMO:0000490)3132465682132465683Human
407007237GWAS656213_Htotal cholesterol measurement QTL GWAS656213 (human)2e-10total cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132469319132469320Human
407103755GWAS752731_Hmean corpuscular hemoglobin QTL GWAS752731 (human)2e-34mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)3132507256132507257Human
407051404GWAS700380_Hhigh density lipoprotein cholesterol measurement QTL GWAS700380 (human)5e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)3132444356132444357Human
406916883GWAS565859_Hlow density lipoprotein cholesterol measurement QTL GWAS565859 (human)1e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132498859132498860Human
407233687GWAS882663_HCCL21 measurement QTL GWAS882663 (human)1e-67CCL21 measurement3132522666132522667Human
407233686GWAS882662_HCCL21 measurement QTL GWAS882662 (human)9e-27CCL21 measurement3132512108132512109Human
407342228GWAS991204_Hurate measurement QTL GWAS991204 (human)3e-15urate measurementblood uric acid level (CMO:0000501)3132516500132516501Human
406978325GWAS627301_Haspartate aminotransferase measurement QTL GWAS627301 (human)3e-13aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3132479151132479152Human
407015828GWAS664804_Hmean corpuscular hemoglobin concentration QTL GWAS664804 (human)4e-14mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)3132516142132516143Human
406904854GWAS553830_Hlow density lipoprotein cholesterol measurement QTL GWAS553830 (human)0.000006low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132534874132534875Human
407076244GWAS725220_Htotal blood protein measurement QTL GWAS725220 (human)4e-13total blood protein measurementblood protein measurement (CMO:0000028)3132462976132462977Human
407196690GWAS845666_HC-C motif chemokine 21 measurement QTL GWAS845666 (human)5e-13C-C motif chemokine 21 measurement3132538575132538576Human
407110301GWAS759277_Hleukocyte count QTL GWAS759277 (human)2e-10leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)3132465682132465683Human
407288349GWAS937325_HC-C motif chemokine 21 measurement QTL GWAS937325 (human)6e-16C-C motif chemokine 21 measurement3132493177132493179Human
406892061GWAS541037_HC-C motif chemokine 21 measurement QTL GWAS541037 (human)1e-57C-C motif chemokine 21 measurement3132521256132521257Human
407198235GWAS847211_Haspartate aminotransferase measurement QTL GWAS847211 (human)2e-16aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3132507256132507257Human
406908959GWAS557935_Hlow density lipoprotein cholesterol measurement QTL GWAS557935 (human)0.000002low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132462976132462977Human
407116699GWAS765675_Hneutrophil count QTL GWAS765675 (human)6e-11neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)3132470204132470205Human
407404311GWAS1053287_Hobsolete_red blood cell distribution width QTL GWAS1053287 (human)4e-37obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
407335960GWAS984936_Hmean corpuscular volume QTL GWAS984936 (human)9e-21mean corpuscular volumemean corpuscular volume (CMO:0000038)3132507256132507257Human
407414824GWAS1063800_Hdiastolic blood pressure QTL GWAS1063800 (human)0.0000001diastolic blood pressurediastolic blood pressure (CMO:0000005)3132477972132477973Human
407400362GWAS1049338_Hurate measurement QTL GWAS1049338 (human)2e-09urate measurementblood uric acid level (CMO:0000501)3132516500132516501Human
407318821GWAS967797_HX-24309 measurement QTL GWAS967797 (human)3e-25X-24309 measurement3132535169132535170Human
407034657GWAS683633_Hmyeloid white cell count QTL GWAS683633 (human)7e-16myeloid white cell countwhite blood cell count (CMO:0000027)3132532097132532098Human
407010598GWAS659574_HAbnormality of refraction QTL GWAS659574 (human)5e-09Abnormality of refraction3132499779132499780Human
407233057GWAS882033_Hmean corpuscular volume QTL GWAS882033 (human)8e-17mean corpuscular volumemean corpuscular volume (CMO:0000038)3132507256132507257Human
407195936GWAS844912_Hapolipoprotein B measurement QTL GWAS844912 (human)4e-09apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)3132422330132422331Human
407336224GWAS985200_Hmean corpuscular hemoglobin QTL GWAS985200 (human)4e-27mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)3132507256132507257Human
407014057GWAS663033_Hsex hormone-binding globulin measurement QTL GWAS663033 (human)0.0000002sex hormone-binding globulin measurement3132479151132479152Human
407232939GWAS881915_Hbone density QTL GWAS881915 (human)4e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)3132432218132432219Human
407173044GWAS822020_Halkaline phosphatase measurement QTL GWAS822020 (human)9e-23alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)3132483169132483170Human
407038130GWAS687106_Hurate measurement QTL GWAS687106 (human)4e-09urate measurementblood uric acid level (CMO:0000501)3132503757132503758Human
407193908GWAS842884_Happendicular lean mass QTL GWAS842884 (human)8e-20appendicular lean mass3132465682132465683Human
407319731GWAS968707_Hnon-high density lipoprotein cholesterol measurement QTL GWAS968707 (human)3e-23non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)3132446334132446335Human
407009206GWAS658182_Hhemoglobin measurement QTL GWAS658182 (human)1e-10hemoglobin measurementhemoglobin measurement (CMO:0000508)3132507256132507257Human
407327282GWAS976258_Htotal cholesterol measurement QTL GWAS976258 (human)4e-34total cholesterol measurementblood total cholesterol level (CMO:0000051)3132462976132462977Human
407336753GWAS985729_Htotal cholesterol measurement QTL GWAS985729 (human)2e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)3132498859132498860Human
407090490GWAS739466_Hobsolete_red blood cell distribution width QTL GWAS739466 (human)1e-33obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
407385777GWAS1034753_Hobsolete_red blood cell distribution width QTL GWAS1034753 (human)4e-40obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
406922680GWAS571656_HC-C motif chemokine 19 measurement QTL GWAS571656 (human)8e-37C-C motif chemokine 19 measurement3132481875132481876Human
407102264GWAS751240_Hleukocyte count QTL GWAS751240 (human)2e-10leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)3132470204132470205Human
407341115GWAS990091_Hurate measurement QTL GWAS990091 (human)2e-17urate measurementblood uric acid level (CMO:0000501)3132516500132516501Human
407196730GWAS845706_Hapolipoprotein B measurement QTL GWAS845706 (human)2e-11apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)3132507256132507257Human

Markers in Region
RH103473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,239,209 - 132,239,335UniSTSGRCh37
Build 363133,721,899 - 133,722,025RGDNCBI36
Celera3130,665,485 - 130,665,611RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,618,632 - 129,618,758UniSTS
GeneMap99-GB4 RH Map3472.49UniSTS
SHGC-77351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,257,636 - 132,257,743UniSTSGRCh37
Build 363133,740,326 - 133,740,433RGDNCBI36
Celera3130,683,912 - 130,684,019RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,637,059 - 129,637,166UniSTS
TNG Radiation Hybrid Map376503.0UniSTS
GeneMap99-GB4 RH Map3470.32UniSTS
SHGC-77348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,224,730 - 132,224,867UniSTSGRCh37
Build 363133,707,420 - 133,707,557RGDNCBI36
Celera3130,651,006 - 130,651,143RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,604,146 - 129,604,283UniSTS
TNG Radiation Hybrid Map376471.0UniSTS
GeneMap99-GB4 RH Map3463.72UniSTS
A006Y18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,244,308 - 132,244,417UniSTSGRCh37
Build 363133,726,998 - 133,727,107RGDNCBI36
Celera3130,670,584 - 130,670,693RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,623,731 - 129,623,840UniSTS
GeneMap99-GB4 RH Map3472.97UniSTS
NCBI RH Map31186.1UniSTS
DNAJC13_3796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,257,228 - 132,257,906UniSTSGRCh37
Build 363133,739,918 - 133,740,596RGDNCBI36
Celera3130,683,504 - 130,684,182RGD
HuRef3129,636,651 - 129,637,329UniSTS


Expression

RNA-SEQ Expression

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 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI189887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY369172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY779857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000260818   ⟹   ENSP00000260818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)Ensembl
Ensembl Acc Id: ENST00000463038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,522,973 - 132,524,017 (+)Ensembl
Ensembl Acc Id: ENST00000464766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,474,256 - 132,482,289 (+)Ensembl
Ensembl Acc Id: ENST00000471925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,456,294 - 132,458,349 (+)Ensembl
Ensembl Acc Id: ENST00000486798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,709 - 132,467,346 (+)Ensembl
Ensembl Acc Id: ENST00000506813   ⟹   ENSP00000421735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,479,227 - 132,488,409 (+)Ensembl
Ensembl Acc Id: ENST00000509279   ⟹   ENSP00000426240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,528,202 - 132,538,508 (+)Ensembl
Ensembl Acc Id: ENST00000513822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,513,008 - 132,514,816 (+)Ensembl
Ensembl Acc Id: ENST00000650455   ⟹   ENSP00000496825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,708 - 132,539,021 (+)Ensembl
RefSeq Acc Id: NM_001329126   ⟹   NP_001316055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,502 - 132,539,032 (+)NCBI
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015268   ⟹   NP_056083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,502 - 132,539,032 (+)NCBI
GRCh373132,136,361 - 132,257,876 (+)NCBI
Build 363133,619,243 - 133,740,566 (+)NCBI Archive
Celera3130,562,832 - 130,684,152 (+)RGD
HuRef3129,515,775 - 129,637,299 (+)ENTREZGENE
CHM1_13132,099,536 - 132,220,871 (+)NCBI
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447819   ⟹   XP_047303775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,539,032 (+)NCBI
RefSeq Acc Id: XM_047447820   ⟹   XP_047303776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,539,032 (+)NCBI
RefSeq Acc Id: XM_054345884   ⟹   XP_054201859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03135,162,314 - 135,283,543 (+)NCBI
RefSeq Acc Id: XM_054345885   ⟹   XP_054201860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03135,162,315 - 135,283,543 (+)NCBI
RefSeq Acc Id: NP_056083   ⟸   NM_015268
- Peptide Label: isoform 2
- UniProtKB: Q96DC1 (UniProtKB/Swiss-Prot),   Q86XG3 (UniProtKB/Swiss-Prot),   Q6ZUT5 (UniProtKB/Swiss-Prot),   Q6ZSW1 (UniProtKB/Swiss-Prot),   Q6UJ77 (UniProtKB/Swiss-Prot),   Q6PI82 (UniProtKB/Swiss-Prot),   Q3L0T1 (UniProtKB/Swiss-Prot),   Q9BWK9 (UniProtKB/Swiss-Prot),   O75165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316055   ⟸   NM_001329126
- Peptide Label: isoform 1
- UniProtKB: B3KN02 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000421735   ⟸   ENST00000506813
Ensembl Acc Id: ENSP00000496825   ⟸   ENST00000650455
Ensembl Acc Id: ENSP00000426240   ⟸   ENST00000509279
Ensembl Acc Id: ENSP00000260818   ⟸   ENST00000260818
RefSeq Acc Id: XP_047303775   ⟸   XM_047447819
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047303776   ⟸   XM_047447820
- Peptide Label: isoform X2
- UniProtKB: Q96DC1 (UniProtKB/Swiss-Prot),   Q86XG3 (UniProtKB/Swiss-Prot),   Q6ZUT5 (UniProtKB/Swiss-Prot),   Q6ZSW1 (UniProtKB/Swiss-Prot),   Q6UJ77 (UniProtKB/Swiss-Prot),   Q6PI82 (UniProtKB/Swiss-Prot),   Q3L0T1 (UniProtKB/Swiss-Prot),   O75165 (UniProtKB/Swiss-Prot),   Q9BWK9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054201859   ⟸   XM_054345884
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201860   ⟸   XM_054345885
- Peptide Label: isoform X2
Protein Domains
DnaJ homologue subfamily C GRV2/DNAJC13 N-terminal   GYF   J

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75165-F1-model_v2 AlphaFold O75165 1-2243 view protein structure

Promoters
RGD ID:6865688
Promoter ID:EPDNEW_H6009
Type:initiation region
Name:DNAJC13_1
Description:DnaJ heat shock protein family member C13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6010  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,516 - 132,417,576EPDNEW
RGD ID:6865690
Promoter ID:EPDNEW_H6010
Type:initiation region
Name:DNAJC13_2
Description:DnaJ heat shock protein family member C13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6009  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,417,757EPDNEW
RGD ID:6800855
Promoter ID:HG_KWN:46229
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000260818,   UC010HTQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363133,618,681 - 133,619,522 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30343 AgrOrtholog
COSMIC DNAJC13 COSMIC
Ensembl Genes ENSG00000138246 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260818 ENTREZGENE
  ENST00000260818.11 UniProtKB/Swiss-Prot
  ENST00000506813.1 UniProtKB/TrEMBL
  ENST00000509279.1 UniProtKB/TrEMBL
  ENST00000650455.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot
  1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138246 GTEx
HGNC ID HGNC:30343 ENTREZGENE
Human Proteome Map DNAJC13 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain UniProtKB/Swiss-Prot
  GRV2/DNAJC13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRV2/DNAJC13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GYF-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GYF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23317 UniProtKB/Swiss-Prot
NCBI Gene 23317 ENTREZGENE
OMIM 614334 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY C MEMBER 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR36983 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot
  GYF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RME-8_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134947358 PharmGKB
PROSITE DNAJ_2 UniProtKB/Swiss-Prot
SMART DnaJ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55277 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRM0_HUMAN UniProtKB/TrEMBL
  B3KN02 ENTREZGENE, UniProtKB/TrEMBL
  DJC13_HUMAN UniProtKB/Swiss-Prot
  H0Y8Q2_HUMAN UniProtKB/TrEMBL
  H0YA63_HUMAN UniProtKB/TrEMBL
  O75165 ENTREZGENE
  Q0D2M7_HUMAN UniProtKB/TrEMBL
  Q3L0T1 ENTREZGENE
  Q6PI82 ENTREZGENE
  Q6UJ77 ENTREZGENE
  Q6ZSW1 ENTREZGENE
  Q6ZUT5 ENTREZGENE
  Q86XG3 ENTREZGENE
  Q96DC1 ENTREZGENE
  Q9BWK9 ENTREZGENE
UniProt Secondary Q3L0T1 UniProtKB/Swiss-Prot
  Q6PI82 UniProtKB/Swiss-Prot
  Q6UJ77 UniProtKB/Swiss-Prot
  Q6ZSW1 UniProtKB/Swiss-Prot
  Q6ZUT5 UniProtKB/Swiss-Prot
  Q86XG3 UniProtKB/Swiss-Prot
  Q96DC1 UniProtKB/Swiss-Prot
  Q9BWK9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJC13  DnaJ heat shock protein family (Hsp40) member C13    DnaJ (Hsp40) homolog, subfamily C, member 13  Symbol and/or name change 5135510 APPROVED