DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) - Rat Genome Database

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Gene: DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) Homo sapiens
Analyze
Symbol: DNAJC30
Name: DnaJ heat shock protein family (Hsp40) member C30
RGD ID: 1348350
HGNC Page HGNC:16410
Description: Predicted to be involved in brain development and regulation of mitochondrial ATP synthesis coupled proton transport. Located in mitochondrial inner membrane. Implicated in Williams-Beuren syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DnaJ (Hsp40) homolog, subfamily C, member 30; dnaJ homolog subfamily C member 30; dnaJ homolog subfamily C member 30, mitochondrial; LHONAR; LHONAR1; MC1DN38; MGC12943; WBSCR18; Williams Beuren syndrome chromosome region 18; williams-Beuren syndrome chromosomal region 18 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,680,918 - 73,683,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,680,918 - 73,683,453 (-)EnsemblGRCh38hg38GRCh38
GRCh37773,095,248 - 73,097,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,733,184 - 72,735,717 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,539,898 - 72,542,432NCBI
Celera768,573,462 - 68,575,995 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,977,660 - 68,980,193 (-)NCBIHuRef
CHM1_1773,240,984 - 73,243,517 (-)NCBICHM1_1
T2T-CHM13v2.0774,881,833 - 74,884,368 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,428,320 - 72,430,853 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal gastric mucosa morphology  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal tubulointerstitial morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the bladder  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the diencephalon  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the voice  (IAGP)
Adducted thumb  (IAGP)
Anxiety  (IAGP)
Aortic arch aneurysm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Arrhythmia  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Blurred vision  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Central retinal vessel vascular tortuosity  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chiari malformation  (IAGP)
Childhood onset  (IAGP)
Cholelithiasis  (IAGP)
Chronic otitis media  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Colonic diverticula  (IAGP)
Compulsive behaviors  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Death in early adulthood  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Down-sloping shoulders  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elfin facies  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive in infancy  (IAGP)
Flat cornea  (IAGP)
Functional abnormality of male internal genitalia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Hallux valgus  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hoarse voice  (IAGP)
Hyperacusis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic toenails  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased bone mineral density  (IAGP)
Increased nuchal translucency  (IAGP)
Inguinal hernia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Involuntary movements  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Long philtrum  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Narrow face  (IAGP)
Nausea and vomiting  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Nystagmus-induced head nodding  (IAGP)
Obesity  (IAGP)
Open bite  (IAGP)
Optic atrophy  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overfriendliness  (IAGP)
Overriding aorta  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Peptic ulcer  (IAGP)
Periorbital edema  (IAGP)
Peripheral neuropathy  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Posterior embryotoxon  (IAGP)
Postural tremor  (IAGP)
Precocious puberty  (IAGP)
Prematurely aged appearance  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Pulmonic stenosis  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced visual acuity  (IAGP)
Redundant skin  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal nerve fiber edema  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Sudden cardiac death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Synostosis of joints  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Urethral stenosis  (IAGP)
Ventricular preexcitation  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, etal., Hum Genet. 2002 May;110(5):429-38. Epub 2002 Mar 28.
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
Additional References at PubMed
PMID:12477932   PMID:12853948   PMID:14702039   PMID:15231747   PMID:15489334   PMID:17207965   PMID:20877624   PMID:21244100   PMID:21516116   PMID:24623722   PMID:26186194   PMID:27432908  
PMID:27503909   PMID:28298427   PMID:28514442   PMID:29507755   PMID:30318146   PMID:32296183   PMID:33465056   PMID:33729478   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35091433  
PMID:36538041   PMID:36939934   PMID:37579815   PMID:38139324  


Genomics

Comparative Map Data
DNAJC30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,680,918 - 73,683,453 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,680,918 - 73,683,453 (-)EnsemblGRCh38hg38GRCh38
GRCh37773,095,248 - 73,097,783 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,733,184 - 72,735,717 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,539,898 - 72,542,432NCBI
Celera768,573,462 - 68,575,995 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,977,660 - 68,980,193 (-)NCBIHuRef
CHM1_1773,240,984 - 73,243,517 (-)NCBICHM1_1
T2T-CHM13v2.0774,881,833 - 74,884,368 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,428,320 - 72,430,853 (-)NCBI
Dnajc30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,093,060 - 135,094,219 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,093,056 - 135,094,716 (+)EnsemblGRCm39 Ensembl
GRCm385135,064,206 - 135,065,365 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,064,202 - 135,065,862 (+)EnsemblGRCm38mm10GRCm38
MGSCv375135,540,076 - 135,541,235 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365135,348,833 - 135,349,992 (+)NCBIMGSCv36mm8
Celera5132,074,535 - 132,075,694 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map574.97NCBI
Dnajc30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,264,861 - 27,265,940 (-)NCBIGRCr8
mRatBN7.21221,628,319 - 21,629,398 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,626,450 - 21,629,408 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,768,581 - 22,769,660 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01223,380,898 - 23,381,977 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01222,449,552 - 22,450,631 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01224,668,398 - 24,669,464 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1224,668,398 - 24,669,464 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,668,668 - 26,669,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,723,460 - 22,724,526 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1223,391,608 - 23,392,674 (-)NCBICelera
Cytogenetic Map12q12NCBI
Dnajc30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,057,620 - 14,058,303 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,057,517 - 14,058,729 (+)NCBIChiLan1.0ChiLan1.0
DNAJC30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2691,216,660 - 91,217,882 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17139,481,291 - 139,482,513 (+)NCBINHGRI_mPanPan1
PanPan1.1780,833,897 - 80,836,428 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl780,835,722 - 80,836,402 (-)Ensemblpanpan1.1panPan2
DNAJC30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,595,233 - 6,596,440 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,595,294 - 6,595,974 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha68,292,442 - 8,295,341 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.066,410,074 - 6,412,973 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl66,410,320 - 6,411,000 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.166,399,570 - 6,402,469 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.066,347,309 - 6,350,208 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,511,022 - 6,513,921 (+)NCBIUU_Cfam_GSD_1.0
Dnajc30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,138,675 - 131,139,926 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,897,068 - 2,897,745 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365432,895,771 - 2,897,761 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJC30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,955,877 - 10,959,916 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,951,173 - 10,959,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2310,653,936 - 10,656,064 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJC30
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,383,068 - 9,385,590 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,383,095 - 9,383,775 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660707,116,784 - 7,119,896 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnajc30
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474014,131,362 - 14,133,580 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAJC30
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000050379] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000050382] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000051134] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 copy number loss See cases [RCV000050996] Chr7:72930548..74869255 [GRCh38]
Chr7:72401086..74285345 [GRCh37]
Chr7:72039022..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1 copy number loss See cases [RCV000050999] Chr7:73352304..74869255 [GRCh38]
Chr7:72766313..74285345 [GRCh37]
Chr7:72404249..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 copy number loss See cases [RCV000052321] Chr7:68668307..73710276 [GRCh38]
Chr7:68133294..72806397 [GRCh37]
Chr7:67771230..72762542 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 copy number gain See cases [RCV000051966] Chr7:72768821..74869255 [GRCh38]
Chr7:72233835..74285345 [GRCh37]
Chr7:71871771..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051967] Chr7:73280574..74725240 [GRCh38]
Chr7:72665462..74139573 [GRCh37]
Chr7:72303398..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3 copy number gain See cases [RCV000051986] Chr7:73280574..74725240 [GRCh38]
Chr7:72679397..74139573 [GRCh37]
Chr7:72317333..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3 copy number gain See cases [RCV000051989] Chr7:73280574..74839100 [GRCh38]
Chr7:72683244..74267189 [GRCh37]
Chr7:72321180..73905125 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3 copy number gain See cases [RCV000051990] Chr7:73312575..74723034 [GRCh38]
Chr7:72726571..74137354 [GRCh37]
Chr7:72364507..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3 copy number gain See cases [RCV000051991] Chr7:73352104..74924178 [GRCh38]
Chr7:72766113..74339185 [GRCh37]
Chr7:72404049..73977121 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1 copy number loss See cases [RCV000053133] Chr7:73096542..74727989 [GRCh38]
Chr7:72507129..74142327 [GRCh37]
Chr7:72145065..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1 copy number loss See cases [RCV000053143] Chr7:73280574..74723034 [GRCh38]
Chr7:72681397..74137354 [GRCh37]
Chr7:72319333..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1 copy number loss See cases [RCV000053144] Chr7:73286412..74723034 [GRCh38]
Chr7:72700414..74137354 [GRCh37]
Chr7:72338350..73775290 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3 copy number gain See cases [RCV000053146] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1 copy number loss See cases [RCV000053147] Chr7:73286412..74725240 [GRCh38]
Chr7:72700414..74139573 [GRCh37]
Chr7:72338350..73777509 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1 copy number loss See cases [RCV000053150] Chr7:73286412..74707848 [GRCh38]
Chr7:72700414..74122179 [GRCh37]
Chr7:72338350..73760115 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3 copy number gain See cases [RCV000053151] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1 copy number loss See cases [RCV000053152] Chr7:73352104..74719154 [GRCh38]
Chr7:72766113..74133473 [GRCh37]
Chr7:72404049..73771409 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]|See cases [RCV000054116] Chr7:73352304..74133404 [GRCh38]
Chr7:72404249..73185670 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1 copy number loss See cases [RCV000054117] Chr7:73614671..73942928 [GRCh38]
Chr7:72666937..72995194 [NCBI36]
Chr7:7q11.23		 pathogenic
NM_001202560.2(WBSCR22):c.298C>T (p.Leu100=) single nucleotide variant Malignant melanoma [RCV000067934] Chr7:73687031 [GRCh38]
Chr7:73101361 [GRCh37]
Chr7:72739297 [NCBI36]
Chr7:7q11.23		 not provided
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1 copy number loss See cases [RCV000134329] Chr7:73304255..74718954 [GRCh38]
Chr7:72718252..74133273 [GRCh37]
Chr7:72356188..73771209 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000135712] Chr7:73040501..75255046 [GRCh38]
Chr7:74285295..76351578 [GRCh37]
Chr7:73923231..76189514 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 copy number gain See cases [RCV000136287] Chr7:72938064..74779028 [GRCh38]
Chr7:72408602..74193374 [GRCh37]
Chr7:72046538..73831310 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1 copy number loss See cases [RCV000136391] Chr7:73280574..74924007 [GRCh38]
Chr7:72636006..74339014 [GRCh37]
Chr7:72273942..73976950 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3 copy number gain See cases [RCV000136042] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1 copy number loss See cases [RCV000136046] Chr7:73352303..74719008 [GRCh38]
Chr7:72766312..74133327 [GRCh37]
Chr7:72404248..73771263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1 copy number loss See cases [RCV000136076] Chr7:73352303..74924023 [GRCh38]
Chr7:72766312..74339030 [GRCh37]
Chr7:72404248..73976966 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1 copy number loss See cases [RCV000136014] Chr7:73352303..74779051 [GRCh38]
Chr7:72766312..74193397 [GRCh37]
Chr7:72404248..73831333 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1 copy number loss See cases [RCV000136793] Chr7:73312582..74725057 [GRCh38]
Chr7:72726578..74139390 [GRCh37]
Chr7:72364514..73777326 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3 copy number gain See cases [RCV000138102] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1 copy number loss See cases [RCV000138103] Chr7:73192369..74779057 [GRCh38]
Chr7:72606409..74193403 [GRCh37]
Chr7:72244345..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3 copy number gain See cases [RCV000137731] Chr7:73040501..75255046 [GRCh38]
Chr7:72635638..74904285 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1 copy number loss See cases [RCV000138355] Chr7:73286412..74727989 [GRCh38]
Chr7:72700414..74142327 [GRCh37]
Chr7:72338350..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3 copy number gain See cases [RCV000138356] Chr7:73280574..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic|conflicting data from submitters
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1 copy number loss See cases [RCV000138357] Chr7:73271690..74727989 [GRCh38]
Chr7:72685734..74142327 [GRCh37]
Chr7:72323670..73780263 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1 copy number loss See cases [RCV000139190] Chr7:73192369..74869255 [GRCh38]
Chr7:72606409..74285345 [GRCh37]
Chr7:72244345..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3 copy number gain See cases [RCV000139121] Chr7:73280574..74779057 [GRCh38]
Chr7:72663962..74193403 [GRCh37]
Chr7:72301898..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1 copy number loss See cases [RCV000139797] Chr7:73286412..74869255 [GRCh38]
Chr7:72700414..74285345 [GRCh37]
Chr7:72338350..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1 copy number loss See cases [RCV000140662] Chr7:73286412..74779057 [GRCh38]
Chr7:72700414..74193403 [GRCh37]
Chr7:72338350..73831339 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3 copy number gain See cases [RCV000140718] Chr7:73192369..74883978 [GRCh38]
Chr7:72606409..74300084 [GRCh37]
Chr7:72244345..73938020 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3 copy number gain See cases [RCV000141703] Chr7:73175475..74740268 [GRCh38]
Chr7:72589515..74154603 [GRCh37]
Chr7:72227451..73792539 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3 copy number gain See cases [RCV000142341] Chr7:73286125..74732517 [GRCh38]
Chr7:72700127..74146858 [GRCh37]
Chr7:72338063..73784794 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1 copy number loss See cases [RCV000142414] Chr7:73280574..74789341 [GRCh38]
Chr7:72637824..74203685 [GRCh37]
Chr7:72275760..73841621 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1 copy number loss See cases [RCV000142230] Chr7:73286508..74727852 [GRCh38]
Chr7:72700510..74142190 [GRCh37]
Chr7:72338446..73780126 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1 copy number loss See cases [RCV000142156] Chr7:73280574..74727918 [GRCh38]
Chr7:72650120..74142256 [GRCh37]
Chr7:72288056..73780192 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1 copy number loss See cases [RCV000142159] Chr7:73286522..74727156 [GRCh38]
Chr7:72700524..74141494 [GRCh37]
Chr7:72338460..73779430 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1 copy number loss See cases [RCV000142891] Chr7:73286412..74758583 [GRCh38]
Chr7:72700414..74172913 [GRCh37]
Chr7:72338350..73810849 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3 copy number gain See cases [RCV000142690] Chr7:73352304..75065728 [GRCh38]
Chr7:72766313..74481540 [GRCh37]
Chr7:72404249..74119476 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3 copy number gain See cases [RCV000143390] Chr7:73280574..74728722 [GRCh38]
Chr7:72677301..74143060 [GRCh37]
Chr7:72315237..73780996 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3 copy number gain See cases [RCV000148080] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1 copy number loss See cases [RCV000148081] Chr7:73352304..74924037 [GRCh38]
Chr7:72766313..74339044 [GRCh37]
Chr7:72404249..73976980 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1 copy number loss See cases [RCV000143632] Chr7:73304280..74727852 [GRCh38]
Chr7:72718277..74142190 [GRCh37]
Chr7:72356213..73780126 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1 copy number loss See cases [RCV000148142] Chr7:73352304..74719013 [GRCh38]
Chr7:72766313..74133332 [GRCh37]
Chr7:72404249..73771268 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1 copy number loss See cases [RCV000239835] Chr7:72718252..74133332 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1 copy number loss See cases [RCV000239823] Chr7:72708237..74339044 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1 copy number loss See cases [RCV000258813] Chr7:72722981..74217390 [GRCh37]
Chr7:7q11.23		 pathogenic|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1 copy number loss See cases [RCV000207450] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225382] Chr7:72718278..74140708 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3 copy number gain See cases [RCV000240527] Chr7:71968212..74133332 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1 copy number loss See cases [RCV000449356] Chr7:72713253..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1 copy number loss See cases [RCV000449372] Chr7:72718277..74141673 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3 copy number gain See cases [RCV000446793] Chr7:72700127..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1 copy number loss See cases [RCV000447530] Chr7:72713253..74143030 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV000447273] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1 copy number loss See cases [RCV000446832] Chr7:72708237..74133273 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3 copy number gain See cases [RCV000446236] Chr7:72686958..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000447620] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1 copy number loss See cases [RCV000446172] Chr7:72718277..74146948 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1 copy number loss See cases [RCV000447454] Chr7:72718277..74142215 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3 copy number gain See cases [RCV000445755] Chr7:72692112..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1 copy number loss See cases [RCV000447774] Chr7:72700524..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1 copy number loss See cases [RCV000448046] Chr7:72718277..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1 copy number loss See cases [RCV000448666] Chr7:72718123..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3 copy number gain See cases [RCV000448344] Chr7:72472922..74259176 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3 copy number gain See cases [RCV000512105] Chr7:72700524..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1 copy number loss See cases [RCV000515566] Chr7:72722981..73198616 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1 copy number loss See cases [RCV000512130] Chr7:72643631..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3 copy number gain See cases [RCV000512048] Chr7:72677301..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1 copy number loss See cases [RCV000510195] Chr7:72718277..74287433 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1 copy number loss See cases [RCV000510198] Chr7:72718277..74259899 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1 copy number loss See cases [RCV000510144] Chr7:72701018..74141493 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 copy number loss See cases [RCV000510243] Chr7:72691242..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1 copy number loss See cases [RCV000511510] Chr7:72718277..73898515 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1 copy number loss See cases [RCV000511528] Chr7:72718277..74146858 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3 copy number gain See cases [RCV000511487] Chr7:72692112..74154497 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1 copy number loss See cases [RCV000511955] Chr7:72718277..74141494 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3 copy number gain See cases [RCV000510884] Chr7:72677173..74143140 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1 copy number loss See cases [RCV000511254] Chr7:72718277..74141603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3 copy number gain See cases [RCV000510938] Chr7:72589515..74165401 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Short stature [RCV000626538] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.149T>C (p.Leu50Pro) single nucleotide variant Inborn genetic diseases [RCV003292639] Chr7:73683275 [GRCh38]
Chr7:73097605 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72766313-74133332) copy number loss Global developmental delay [RCV000626537] Chr7:72766313..74133332 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1 copy number loss See cases [RCV000512220] Chr7:72718277..74141746 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1 copy number loss See cases [RCV000512310] Chr7:72536980..74629034 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3 copy number gain See cases [RCV000512328] Chr7:72577021..74197846 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3 copy number gain See cases [RCV000512332] Chr7:72659674..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3 copy number gain not provided [RCV000682843] Chr7:72686958..73113924 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3 copy number gain not provided [RCV000682883] Chr7:72700524..74069858 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3 copy number gain not provided [RCV000682886] Chr7:72701018..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1 copy number loss not provided [RCV000682885] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1 copy number loss not provided [RCV000682892] Chr7:72608514..74386749 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3 copy number gain not provided [RCV000682888] Chr7:72576872..74175429 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1 copy number loss not provided [RCV000682894] Chr7:72589515..74386749 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3 copy number gain not provided [RCV000682887] Chr7:72577021..74147166 [GRCh37]
Chr7:7q11.23		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 copy number loss not provided [RCV000746794] Chr7:72722981..74200092 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 copy number loss not provided [RCV000746790] Chr7:72650106..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1 copy number loss not provided [RCV000746793] Chr7:72719386..74218536 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:73023062-73524207)x1 copy number loss not provided [RCV000746796] Chr7:73023062..73524207 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Schizophrenia [RCV000754333] Chr7:73312644..74726596 [GRCh38]
Chr7:7q11.23		 pathogenic
Single allele duplication Autism [RCV000754334] Chr7:73323103..74726596 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1 copy number loss not provided [RCV000746791] Chr7:72650265..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3 copy number gain not provided [RCV000746795] Chr7:72743983..74145064 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1 copy number loss not provided [RCV000746792] Chr7:72653306..74134911 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele duplication Intestinal malrotation [RCV000754986] Chr7:72634873..74142327 [GRCh37]
Chr7:7q11.23		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Williams syndrome [RCV000767640] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142190) copy number loss Williams syndrome [RCV000767639] Chr7:72700996..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72721449-73959106) copy number loss Williams syndrome [RCV000767559] Chr7:72721449..73959106 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-74339044) copy number loss Williams syndrome [RCV000767637] Chr7:72744494..74339044 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV002285079] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion not provided [RCV000768460] Chr7:72682338..74141250 [GRCh37]
Chr7:7q11.23		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787465] Chr7:72699382..74142329 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787466] Chr7:72726590..74142329 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787457] Chr7:72364526..73780265 [GRCh37]
Chr7:7q11.23		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Williams syndrome [RCV001172267] Chr7:72657228..74160300 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Williams syndrome [RCV003234736] Chr7:73214501..74773500 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1 copy number loss not provided [RCV002472618] Chr7:72643632..74143060 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1 copy number loss not provided [RCV002472631] Chr7:72654782..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72996564-73597315)x1 copy number loss not provided [RCV001005968] Chr7:72996564..73597315 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.100G>A (p.Gly34Arg) single nucleotide variant not provided [RCV001665267] Chr7:73683324 [GRCh38]
Chr7:73097654 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3 copy number gain See cases [RCV001194543] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) single nucleotide variant DNAJC30-associated disorder [RCV001254067]|Leber hereditary optic neuropathy, autosomal recessive [RCV001523899]|Leber optic atrophy, susceptibility to [RCV003336359]|not provided [RCV001291562] Chr7:73683272 [GRCh38]
Chr7:73097602 [GRCh37]
Chr7:7q11.23		 pathogenic|likely pathogenic
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1 copy number loss not provided [RCV001260005] Chr7:68977230..73939510 [GRCh37]
Chr7:7q11.22-11.23		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74142190) copy number loss Williams syndrome [RCV002280684] Chr7:72700127..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3 copy number gain not provided [RCV001258797] Chr7:72659674..74164894 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310) copy number loss Williams syndrome [RCV001352633] Chr7:71847968..73391310 [GRCh37]
Chr7:7q11.22-11.23		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1 copy number loss not provided [RCV001270666] Chr7:72717369..74142224 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser) single nucleotide variant Leber hereditary optic neuropathy, autosomal recessive [RCV001523900] Chr7:73683192 [GRCh38]
Chr7:73097522 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln) single nucleotide variant Leber hereditary optic neuropathy, autosomal recessive [RCV001523901] Chr7:73683122 [GRCh38]
Chr7:73097452 [GRCh37]
Chr7:7q11.23		 pathogenic
NC_000007.14:g.73304277_74727414del deletion Williams syndrome [RCV003318489] Chr7:73304277..74727414 [GRCh38]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser) single nucleotide variant Leber hereditary optic neuropathy, autosomal recessive [RCV001730057] Chr7:73683131 [GRCh38]
Chr7:73097461 [GRCh37]
Chr7:7q11.23		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3 copy number gain Distal 7q11.23 microdeletion syndrome [RCV001801209] Chr7:72717345..74133310 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72921550-74145628) copy number loss Williams syndrome [RCV002280680] Chr7:72921550..74145628 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589195-74225562) copy number loss Williams syndrome [RCV002280675] Chr7:72589195..74225562 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142256) copy number loss Williams syndrome [RCV002280681] Chr7:72700996..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72701084-74142190) copy number loss Williams syndrome [RCV002280683] Chr7:72701084..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784) copy number loss Williams syndrome [RCV002280679] Chr7:72718123..74141784 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72717395-74173168) copy number loss Williams syndrome [RCV003236746] Chr7:72717395..74173168 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3 copy number gain 7q11.23 microduplication syndrome [RCV002279739] Chr7:72766313..74042787 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74142190) copy number loss Williams syndrome [RCV002280674] Chr7:72718123..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72645013-74142190) copy number loss Williams syndrome [RCV002280678] Chr7:72645013..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72700942-74142190) copy number loss Williams syndrome [RCV002280682] Chr7:72700942..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74155067) copy number gain 7q11.23 microduplication syndrome [RCV002280765] Chr7:72686958..74155067 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1 copy number loss not provided [RCV002473955] Chr7:72718278..74143240 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1 copy number loss not provided [RCV002474679] Chr7:72718278..74143060 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1 copy number loss not provided [RCV002472548] Chr7:72718278..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.587G>A (p.Arg196Gln) single nucleotide variant Inborn genetic diseases [RCV002817927] Chr7:73682837 [GRCh38]
Chr7:73097167 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.38T>C (p.Leu13Ser) single nucleotide variant Inborn genetic diseases [RCV002841658] Chr7:73683386 [GRCh38]
Chr7:73097716 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.146C>G (p.Ala49Gly) single nucleotide variant Inborn genetic diseases [RCV002950625] Chr7:73683278 [GRCh38]
Chr7:73097608 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.305G>C (p.Gly102Ala) single nucleotide variant Inborn genetic diseases [RCV002846051] Chr7:73683119 [GRCh38]
Chr7:73097449 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.243C>G (p.Asn81Lys) single nucleotide variant Inborn genetic diseases [RCV002936523] Chr7:73683181 [GRCh38]
Chr7:73097511 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV002813977] Chr7:73683365 [GRCh38]
Chr7:73097695 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.506A>G (p.Gln169Arg) single nucleotide variant Inborn genetic diseases [RCV002944346] Chr7:73682918 [GRCh38]
Chr7:73097248 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.374T>C (p.Val125Ala) single nucleotide variant Inborn genetic diseases [RCV003207848] Chr7:73683050 [GRCh38]
Chr7:73097380 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.403C>T (p.Pro135Ser) single nucleotide variant not provided [RCV003223253] Chr7:73683021 [GRCh38]
Chr7:73097351 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:73229597-74727852) copy number loss Williams syndrome [RCV003223593] Chr7:73229597..74727852 [GRCh38]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72664461-74162586) copy number gain 7q11.23 microduplication syndrome [RCV003319591] Chr7:72664461..74162586 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003320440] Chr7:72718277..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.603C>T (p.Leu201=) single nucleotide variant not provided [RCV003423613] Chr7:73682821 [GRCh38]
Chr7:73097151 [GRCh37]
Chr7:7q11.23		 likely benign
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3 copy number gain not provided [RCV003484684] Chr7:72547476..74263704 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter) single nucleotide variant Leber hereditary optic neuropathy, autosomal recessive [RCV003389565] Chr7:73682814 [GRCh38]
Chr7:73097144 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del) microsatellite Leber hereditary optic neuropathy, autosomal recessive [RCV003389566] Chr7:73683192..73683194 [GRCh38]
Chr7:73097522..73097524 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.397C>T (p.Pro133Ser) single nucleotide variant not provided [RCV003433867] Chr7:73683027 [GRCh38]
Chr7:73097357 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_032317.3(DNAJC30):c.24G>A (p.Trp8Ter) single nucleotide variant DNAJC30-related condition [RCV003420729] Chr7:73683400 [GRCh38]
Chr7:73097730 [GRCh37]
Chr7:7q11.23		 likely pathogenic
NM_032317.3(DNAJC30):c.130_131del (p.Ser44fs) deletion Leber hereditary optic neuropathy, autosomal recessive [RCV003389564] Chr7:73683293..73683294 [GRCh38]
Chr7:73097623..73097624 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3 copy number gain not specified [RCV003986715] Chr7:66776724..74629034 [GRCh37]
Chr7:7q11.21-11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_032317.3(DNAJC30):c.114T>C (p.Tyr38=) single nucleotide variant DNAJC30-related condition [RCV003971624] Chr7:73683310 [GRCh38]
Chr7:73097640 [GRCh37]
Chr7:7q11.23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:690
Count of miRNA genes:471
Interacting mature miRNAs:509
Transcripts:ENST00000395176
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-56098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,096,621 - 73,096,752UniSTSGRCh37
Build 36772,734,557 - 72,734,688RGDNCBI36
Celera768,574,835 - 68,574,966RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,979,033 - 68,979,164UniSTS
CRA_TCAGchr7v2772,429,693 - 72,429,824UniSTS
GeneMap99-GB4 RH Map7426.1UniSTS
Whitehead-RH Map7401.9UniSTS
G59668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,095,402 - 73,095,501UniSTSGRCh37
Build 36772,733,338 - 72,733,437RGDNCBI36
Celera768,573,616 - 68,573,715RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,977,814 - 68,977,913UniSTS
CRA_TCAGchr7v2772,428,474 - 72,428,573UniSTS
WBSCR18__5080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,096,463 - 73,097,267UniSTSGRCh37
Build 36772,734,399 - 72,735,203RGDNCBI36
Celera768,574,677 - 68,575,481RGD
HuRef768,978,875 - 68,979,679UniSTS
CRA_TCAGchr7v2772,429,535 - 72,430,339UniSTS
RH36134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,095,402 - 73,095,502UniSTSGRCh37
Build 36772,733,338 - 72,733,438RGDNCBI36
Celera768,573,616 - 68,573,716RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,977,814 - 68,977,914UniSTS
CRA_TCAGchr7v2772,428,474 - 72,428,574UniSTS
GeneMap99-GB4 RH Map7424.83UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 883 342 1324 145 669 139 709 627 1800 323 1101 1060 18 1 352 285 3 2
Low 1556 2605 402 479 1242 326 3648 1566 1934 96 359 553 156 852 2503 3
Below cutoff 44 40 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000395176   ⟹   ENSP00000378605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,680,918 - 73,683,453 (-)Ensembl
RefSeq Acc Id: NM_032317   ⟹   NP_115693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,680,918 - 73,683,453 (-)NCBI
GRCh37773,095,248 - 73,097,781 (-)RGD
Build 36772,733,184 - 72,735,717 (-)NCBI Archive
Celera768,573,462 - 68,575,995 (-)RGD
HuRef768,977,660 - 68,980,193 (-)ENTREZGENE
CHM1_1773,240,984 - 73,243,517 (-)NCBI
T2T-CHM13v2.0774,881,833 - 74,884,368 (-)NCBI
CRA_TCAGchr7v2772,428,320 - 72,430,853 (-)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_115693   ⟸   NM_032317
- Peptide Label: precursor
- UniProtKB: Q9BSG8 (UniProtKB/Swiss-Prot),   Q96LL9 (UniProtKB/Swiss-Prot),   B3KSU4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000378605   ⟸   ENST00000395176
Protein Domains
J

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96LL9-F1-model_v2 AlphaFold Q96LL9 1-226 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16410 AgrOrtholog
COSMIC DNAJC30 COSMIC
Ensembl Genes ENSG00000176410 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000395176 ENTREZGENE
  ENST00000395176.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000176410 GTEx
HGNC ID HGNC:16410 ENTREZGENE
Human Proteome Map DNAJC30 Human Proteome Map
InterPro DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84277 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84277 ENTREZGENE
OMIM 618202 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY C MEMBER 30, MITOCHONDRIAL UniProtKB/Swiss-Prot
  DNAJ HOMOLOG SUBFAMILY C MEMBER 30, MITOCHONDRIAL UniProtKB/Swiss-Prot
  DNAJ HOMOLOG SUBFAMILY C MEMBER 30, MITOCHONDRIAL UniProtKB/TrEMBL
  DNAJ HOMOLOG SUBFAMILY C MEMBER 30, MITOCHONDRIAL UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162383931 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KSU4 ENTREZGENE, UniProtKB/TrEMBL
  DJC30_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BSG8 ENTREZGENE
UniProt Secondary Q9BSG8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJC30  DnaJ heat shock protein family (Hsp40) member C30    DnaJ (Hsp40) homolog, subfamily C, member 30  Symbol and/or name change 5135510 APPROVED
2011-09-01 DNAJC30  DnaJ (Hsp40) homolog, subfamily C, member 30  DNAJC30  DnaJ (Hsp40) homolog, subfamily C, member 30  Symbol and/or name change 5135510 APPROVED