BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor) - Rat Genome Database

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Gene: BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor) Homo sapiens
Analyze
Symbol: BUD23
Name: BUD23 rRNA methyltransferase and ribosome maturation factor
RGD ID: 1344086
HGNC Page HGNC:16405
Description: Enables protein heterodimerization activity and rRNA (guanine) methyltransferase activity. Involved in positive regulation of rRNA processing and rRNA (guanine-N7)-methylation. Located in nucleolus; nucleoplasm; and perinuclear region of cytoplasm. Implicated in Williams-Beuren syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bud site selection protein 23 homolog; BUD23, rRNA methyltransferase and ribosome maturation factor; FLJ44236; HASJ4442; HUSSY-3; MERM1; metastasis-related methyltransferase 1; MGC19709; MGC2022; MGC5140; PP3381; probable 18S rRNA (guanine-N(7))-methyltransferase; ribosome biogenesis methyltransferase WBSCR22; rRNA methyltransferase and ribosome maturation factor; uncharacterized methyltransferase WBSCR22; WBMT; WBSCR22; Williams Beuren syndrome chromosome region 22; Williams-Beuren candidate region putative methyltransferase; Williams-Beuren syndrome chromosomal region 22 protein; Williams-Beuren syndrome chromosome region 22
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
GRCh38773,683,597 - 73,698,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,683,597 - 73,698,212 (+)EnsemblGRCh38hg38GRCh38
GRCh37773,097,927 - 73,112,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,735,834 - 72,750,478 (+)NCBINCBI36Build 36hg18NCBI36
Build 34772,542,548 - 72,557,192NCBI
Celera768,576,112 - 68,590,746 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,980,309 - 68,994,966 (+)NCBIHuRef
CHM1_1773,243,634 - 73,258,288 (+)NCBICHM1_1
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
nucleolus  (IBA,IDA,IEA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IDA,IEA)
perinuclear region of cytoplasm  (IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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)
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)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Broad forehead  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chiari malformation  (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)
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)
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)
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 pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Posterior embryotoxon  (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)
Redundant skin  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (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 septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A and Grzeschik KH, Cytogenet Cell Genet. 2001;95(1-2):20-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8889549   PMID:11124703   PMID:12073013   PMID:12477932   PMID:12853948   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15498874   PMID:15635413   PMID:16341674  
PMID:16344560   PMID:17207965   PMID:17213182   PMID:21145461   PMID:21148752   PMID:21873635   PMID:21988832   PMID:22681889   PMID:22939629   PMID:24086612   PMID:24488492   PMID:25324306  
PMID:25352209   PMID:25525153   PMID:25544563   PMID:25851604   PMID:26186194   PMID:26214185   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26760575   PMID:27926873   PMID:28514442  
PMID:28986522   PMID:29117863   PMID:29133897   PMID:29467282   PMID:29955894   PMID:30535232   PMID:30572598   PMID:31452512   PMID:31939735   PMID:32296183   PMID:32380188   PMID:33226137  
PMID:33306668   PMID:33545068   PMID:33742100   PMID:33961781   PMID:34373451   PMID:34921745   PMID:34948388   PMID:35088887   PMID:35140242   PMID:35271311   PMID:35944360   PMID:36215168  
PMID:36244648   PMID:36273042   PMID:36321656   PMID:36424410   PMID:36574265   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
BUD23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,683,597 - 73,698,212 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,683,597 - 73,698,212 (+)EnsemblGRCh38hg38GRCh38
GRCh37773,097,927 - 73,112,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,735,834 - 72,750,478 (+)NCBINCBI36Build 36hg18NCBI36
Build 34772,542,548 - 72,557,192NCBI
Celera768,576,112 - 68,590,746 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,980,309 - 68,994,966 (+)NCBIHuRef
CHM1_1773,243,634 - 73,258,288 (+)NCBICHM1_1
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
Bud23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,081,811 - 135,093,813 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,081,811 - 135,093,813 (-)EnsemblGRCm39 Ensembl
GRCm385135,052,957 - 135,064,959 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,052,957 - 135,064,959 (-)EnsemblGRCm38mm10GRCm38
MGSCv375135,528,827 - 135,539,980 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365135,337,586 - 135,349,586 (-)NCBIMGSCv36mm8
Celera5132,063,286 - 132,074,439 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map574.97NCBI
Bud23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,266,093 - 27,277,300 (+)NCBIGRCr8
mRatBN7.21221,629,551 - 21,640,758 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,629,536 - 21,640,751 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,769,812 - 22,781,449 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01223,382,129 - 23,393,766 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01222,450,784 - 22,461,993 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01224,669,626 - 24,680,833 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1224,669,449 - 24,680,818 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,669,896 - 26,681,103 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,724,688 - 22,735,895 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1223,392,836 - 23,404,043 (+)NCBICelera
Cytogenetic Map12q12NCBI
Bud23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,047,409 - 14,057,939 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,047,409 - 14,057,483 (-)NCBIChiLan1.0ChiLan1.0
BUD23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2691,201,923 - 91,216,615 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17139,466,554 - 139,481,234 (-)NCBINHGRI_mPanPan1
PanPan1.1780,836,518 - 80,851,501 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl780,836,518 - 80,851,497 (+)Ensemblpanpan1.1panPan2
BUD23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,583,612 - 6,596,538 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,583,616 - 6,595,281 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha68,281,013 - 8,293,928 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.066,398,642 - 6,411,560 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl66,398,641 - 6,410,307 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.166,388,142 - 6,401,056 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.066,335,879 - 6,348,795 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,499,592 - 6,512,508 (-)NCBIUU_Cfam_GSD_1.0
Bud23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,127,809 - 131,138,719 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,897,432 - 2,908,802 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365432,897,884 - 2,908,758 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BUD23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,960,092 - 10,973,082 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,960,037 - 10,973,084 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2310,656,154 - 10,669,253 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BUD23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,368,950 - 9,382,951 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,368,726 - 9,382,925 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660707,119,984 - 7,134,024 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bud23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474014,120,798 - 14,131,933 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474014,120,798 - 14,131,490 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BUD23
10 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
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
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(chr7:72722981-74217390)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(chr7:72717369-74142224)x1 copy number loss not provided [RCV001270666] Chr7:72717369..74142224 [GRCh37]
Chr7:7q11.23		 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
NM_017528.5(BUD23):c.19C>T (p.Arg7Cys) single nucleotide variant Inborn genetic diseases [RCV003277659] Chr7:73683644 [GRCh38]
Chr7:73097974 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72772522-74133319) copy number loss Short stature [RCV000626538] Chr7:72772522..74133319 [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(chr7:72766313-74133332) copy number loss Global developmental delay [RCV000626537] Chr7:72766313..74133332 [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(chr7:72718123-74141784)x1 copy number loss not provided [RCV000682885] Chr7:72718123..74141784 [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(chr7:72577021-74147166)x3 copy number gain not provided [RCV000682887] Chr7:72577021..74147166 [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(chr7:72612042-74574641)x1 copy number loss not provided [RCV000682895] Chr7:72612042..74574641 [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(chr7:72608514-74386749)x1 copy number loss not provided [RCV000682892] Chr7:72608514..74386749 [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
Single allele deletion not provided [RCV000768460] Chr7:72682338..74141250 [GRCh37]
Chr7:7q11.23		 likely 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(chr7:73023062-73524207)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(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 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 7q11.23(chr7:72650106-74138603)x1 copy number loss not provided [RCV000746790] Chr7:72650106..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)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(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [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(chr7:72653306-74134911)x1 copy number loss not provided [RCV000746792] Chr7:72653306..74134911 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele duplication Intestinal malrotation [RCV000754986] Chr7:72634873..74142327 [GRCh37]
Chr7:7q11.23		 likely pathogenic
NM_017528.5(BUD23):c.585C>T (p.Ala195=) single nucleotide variant not provided [RCV000947022] Chr7:73693403 [GRCh38]
Chr7:73107733 [GRCh37]
Chr7:7q11.23		 benign
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(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [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(chr7:72744494-74339044) copy number loss Williams syndrome [RCV000767637] Chr7:72744494..74339044 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787465] Chr7:72699382..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 Neurodevelopmental disorder [RCV000787466] Chr7:72726590..74142329 [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
Single allele deletion Williams syndrome [RCV001172267] Chr7:72657228..74160300 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3 copy number gain See cases [RCV001194543] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 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(chr7:72718123-74142190) copy number loss Williams syndrome [RCV002280674] Chr7:72718123..74142190 [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(chr7:72700127-74142190) copy number loss Williams syndrome [RCV002280684] Chr7:72700127..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 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
NC_000007.14:g.73304277_74727414del deletion Williams syndrome [RCV003318489] Chr7:73304277..74727414 [GRCh38]
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
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(chr7:72701084-74142190) copy number loss Williams syndrome [RCV002280683] Chr7:72701084..74142190 [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(chr7:72717345-74133310)x3 copy number gain Distal 7q11.23 microdeletion syndrome [RCV001801209] Chr7:72717345..74133310 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034) copy number loss Williams syndrome [RCV002280676] Chr7:72589515..74629034 [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(chr7:72718123-74141784) copy number loss Williams syndrome [RCV002280679] Chr7:72718123..74141784 [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
Single allele deletion Williams syndrome [RCV003234736] Chr7:73214501..74773500 [GRCh38]
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(chr7:72766313-74042787)x3 copy number gain 7q11.23 microduplication syndrome [RCV002279739] Chr7:72766313..74042787 [GRCh37]
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(chr7:72718278-74143060)x1 copy number loss not provided [RCV002474679] Chr7:72718278..74143060 [GRCh37]
Chr7:7q11.23		 pathogenic
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(chr7:72718278-74142256)x1 copy number loss not provided [RCV002472548] Chr7:72718278..74142256 [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
NM_017528.5(BUD23):c.745C>T (p.Arg249Trp) single nucleotide variant Inborn genetic diseases [RCV003199275] Chr7:73697648 [GRCh38]
Chr7:73111978 [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
NM_017528.5(BUD23):c.683C>T (p.Ser228Phe) single nucleotide variant Inborn genetic diseases [RCV003266096] Chr7:73694032 [GRCh38]
Chr7:73108362 [GRCh37]
Chr7:7q11.23		 uncertain significance
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_017528.5(BUD23):c.773G>A (p.Arg258Gln) single nucleotide variant Inborn genetic diseases [RCV003366048] Chr7:73697676 [GRCh38]
Chr7:73112006 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3 copy number gain not provided [RCV003484684] Chr7:72547476..74263704 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_017528.5(BUD23):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV003433868] Chr7:73683631 [GRCh38]
Chr7:73097961 [GRCh37]
Chr7:7q11.23		 likely benign
NM_017528.5(BUD23):c.71G>A (p.Arg24Gln) single nucleotide variant not provided [RCV003433869] Chr7:73683789 [GRCh38]
Chr7:73098119 [GRCh37]
Chr7:7q11.23		 likely benign
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6422
Count of miRNA genes:1138
Interacting mature miRNAs:1433
Transcripts:ENST00000265758, ENST00000421304, ENST00000421744, ENST00000423166, ENST00000423497, ENST00000428163, ENST00000430270, ENST00000430446, ENST00000432522, ENST00000436944, ENST00000441822, ENST00000442099, ENST00000453316, ENST00000463307, ENST00000464615, ENST00000471215, ENST00000478670, ENST00000487006, ENST00000496153
Prediction methods:Microtar, 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
RH103672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,119,326 - 73,119,478UniSTSGRCh37
Build 36772,757,262 - 72,757,414RGDNCBI36
Celera768,597,531 - 68,597,683RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,001,741 - 69,001,893UniSTS
CRA_TCAGchr7v2772,452,398 - 72,452,550UniSTS
GeneMap99-GB4 RH Map7425.34UniSTS
SHGC-154307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,110,101 - 73,110,445UniSTSGRCh37
Build 36772,748,037 - 72,748,381RGDNCBI36
Celera768,588,304 - 68,588,648RGD
HuRef768,992,515 - 68,992,859UniSTS
CRA_TCAGchr7v2772,443,173 - 72,443,517UniSTS
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


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 2415 2295 1545 452 1372 294 4356 2078 3009 379 1456 1612 175 1 1202 2787 5 2
Low 24 696 181 172 579 171 1 119 725 40 4 1 2 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001202560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA099700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA508840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF412034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF420248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG108222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM671506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM794274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP280183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ927478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ930813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ961799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB276687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT220127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265758   ⟹   ENSP00000265758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,597 - 73,698,212 (+)Ensembl
RefSeq Acc Id: ENST00000421304   ⟹   ENSP00000391761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,569 - 73,687,095 (+)Ensembl
RefSeq Acc Id: ENST00000421744   ⟹   ENSP00000404981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,573 - 73,696,740 (+)Ensembl
RefSeq Acc Id: ENST00000423497   ⟹   ENSP00000401191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,626 - 73,698,208 (+)Ensembl
RefSeq Acc Id: ENST00000428163   ⟹   ENSP00000390048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,607 - 73,694,004 (+)Ensembl
RefSeq Acc Id: ENST00000430270   ⟹   ENSP00000398314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,626 - 73,698,104 (+)Ensembl
RefSeq Acc Id: ENST00000430446   ⟹   ENSP00000415387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,686,820 - 73,698,156 (+)Ensembl
RefSeq Acc Id: ENST00000432522   ⟹   ENSP00000390136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,571 - 73,694,465 (+)Ensembl
RefSeq Acc Id: ENST00000436944   ⟹   ENSP00000391410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,607 - 73,705,161 (+)Ensembl
RefSeq Acc Id: ENST00000441822   ⟹   ENSP00000392039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,601 - 73,692,646 (+)Ensembl
RefSeq Acc Id: ENST00000442099   ⟹   ENSP00000398732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,690,916 - 73,698,152 (+)Ensembl
RefSeq Acc Id: ENST00000453316   ⟹   ENSP00000394852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,692,596 - 73,698,142 (+)Ensembl
RefSeq Acc Id: ENST00000463307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,609 - 73,698,156 (+)Ensembl
RefSeq Acc Id: ENST00000464615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,025 - 73,686,734 (+)Ensembl
RefSeq Acc Id: ENST00000471215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,694,114 - 73,698,136 (+)Ensembl
RefSeq Acc Id: ENST00000478670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,597 - 73,692,873 (+)Ensembl
RefSeq Acc Id: ENST00000487006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,631 - 73,693,551 (+)Ensembl
RefSeq Acc Id: ENST00000496153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,683,597 - 73,694,101 (+)Ensembl
RefSeq Acc Id: NM_001202560   ⟹   NP_001189489
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
GRCh37773,097,898 - 73,112,551 (+)NCBI
HuRef768,980,309 - 68,994,966 (+)NCBI
CHM1_1773,243,634 - 73,258,288 (+)NCBI
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017528   ⟹   NP_059998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
GRCh37773,097,898 - 73,112,551 (+)NCBI
Build 36772,735,834 - 72,750,478 (+)NCBI Archive
Celera768,576,112 - 68,590,746 (+)RGD
HuRef768,980,309 - 68,994,966 (+)NCBI
CHM1_1773,243,634 - 73,258,288 (+)NCBI
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
Sequence:
RefSeq Acc Id: NR_037776
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
GRCh37773,097,898 - 73,112,551 (+)NCBI
HuRef768,980,309 - 68,994,966 (+)NCBI
CHM1_1773,243,634 - 73,258,288 (+)NCBI
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045512
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
GRCh37773,097,898 - 73,112,551 (+)NCBI
HuRef768,980,309 - 68,994,966 (+)NCBI
CHM1_1773,243,634 - 73,258,288 (+)NCBI
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
CRA_TCAGchr7v2772,430,970 - 72,445,623 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006715847   ⟹   XP_006715910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515778   ⟹   XP_011514080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515779   ⟹   XP_011514081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,698,212 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054357199   ⟹   XP_054213174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
RefSeq Acc Id: XM_054357200   ⟹   XP_054213175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
RefSeq Acc Id: XM_054357201   ⟹   XP_054213176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,884,512 - 74,899,128 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_059998   ⟸   NM_017528
- Peptide Label: isoform 2
- UniProtKB: Q9BQ58 (UniProtKB/Swiss-Prot),   Q96P12 (UniProtKB/Swiss-Prot),   C9K060 (UniProtKB/Swiss-Prot),   A8K501 (UniProtKB/Swiss-Prot),   Q9HBP9 (UniProtKB/Swiss-Prot),   O43709 (UniProtKB/Swiss-Prot),   Q75ME3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001189489   ⟸   NM_001202560
- Peptide Label: isoform 1
- UniProtKB: Q75ME3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715910   ⟸   XM_006715847
- Peptide Label: isoform X1
- UniProtKB: Q75ME3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514081   ⟸   XM_011515779
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011514080   ⟸   XM_011515778
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000401191   ⟸   ENST00000423497
RefSeq Acc Id: ENSP00000390048   ⟸   ENST00000428163
RefSeq Acc Id: ENSP00000394852   ⟸   ENST00000453316
RefSeq Acc Id: ENSP00000392039   ⟸   ENST00000441822
RefSeq Acc Id: ENSP00000398732   ⟸   ENST00000442099
RefSeq Acc Id: ENSP00000415387   ⟸   ENST00000430446
RefSeq Acc Id: ENSP00000398314   ⟸   ENST00000430270
RefSeq Acc Id: ENSP00000390136   ⟸   ENST00000432522
RefSeq Acc Id: ENSP00000391761   ⟸   ENST00000421304
RefSeq Acc Id: ENSP00000404981   ⟸   ENST00000421744
RefSeq Acc Id: ENSP00000265758   ⟸   ENST00000265758
RefSeq Acc Id: ENSP00000391410   ⟸   ENST00000436944
RefSeq Acc Id: XP_054213174   ⟸   XM_054357199
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213175   ⟸   XM_054357200
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213176   ⟸   XM_054357201
- Peptide Label: isoform X3
Protein Domains
18S rRNA (guanine(1575)-N(7))-methyltransferase   Methyltransferase type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43709-F1-model_v2 AlphaFold O43709 1-281 view protein structure

Promoters
RGD ID:6806397
Promoter ID:HG_KWN:57968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_017528,   OTTHUMT00000348034,   OTTHUMT00000348037,   OTTHUMT00000348041,   OTTHUMT00000348042,   OTTHUMT00000348043,   OTTHUMT00000348044,   OTTHUMT00000348045,   OTTHUMT00000348046,   OTTHUMT00000348047,   UC003TYU.1,   UC003TYV.1,   UC003TYW.1,   UC010LBI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,735,494 - 72,735,994 (+)MPROMDB
RGD ID:6852374
Promoter ID:EP73994
Type:initiation region
Name:HS_WBSCR22
Description:Williams Beuren syndrome chromosome region 22.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,735,881 - 72,735,941EPD
RGD ID:6806396
Promoter ID:HG_KWN:57972
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000348040
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,746,536 - 72,749,802 (+)MPROMDB
RGD ID:7210777
Promoter ID:EPDNEW_H11132
Type:initiation region
Name:WBSCR22_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,683,597 - 73,683,657EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16405 AgrOrtholog
COSMIC BUD23 COSMIC
Ensembl Genes ENSG00000071462 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265758 ENTREZGENE
  ENST00000265758.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000071462 GTEx
HGNC ID HGNC:16405 ENTREZGENE
Human Proteome Map BUD23 Human Proteome Map
InterPro Bud23-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bud23_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyltransf_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114049 UniProtKB/Swiss-Prot
NCBI Gene 114049 ENTREZGENE
OMIM 615733 OMIM
PANTHER 18S RRNA (GUANINE-N(7))-METHYLTRANSFERASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12734 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Methyltransf_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WBS_methylT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38133 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K501 ENTREZGENE
  BUD23_HUMAN UniProtKB/Swiss-Prot
  C9K060 ENTREZGENE
  O43709 ENTREZGENE
  Q75ME3 ENTREZGENE, UniProtKB/TrEMBL
  Q96P12 ENTREZGENE
  Q9BQ58 ENTREZGENE
  Q9HBP9 ENTREZGENE
UniProt Secondary A8K501 UniProtKB/Swiss-Prot
  C9K060 UniProtKB/Swiss-Prot
  Q96P12 UniProtKB/Swiss-Prot
  Q9BQ58 UniProtKB/Swiss-Prot
  Q9HBP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 BUD23  BUD23 rRNA methyltransferase and ribosome maturation factor    BUD23, rRNA methyltransferase and ribosome maturation factor  Symbol and/or name change 5135510 APPROVED
2017-02-28 BUD23  BUD23, rRNA methyltransferase and ribosome maturation factor  WBSCR22  Williams-Beuren syndrome chromosome region 22  Symbol and/or name change 5135510 APPROVED
2016-03-21 WBSCR22  Williams-Beuren syndrome chromosome region 22    Williams Beuren syndrome chromosome region 22  Symbol and/or name change 5135510 APPROVED