TBL2 (transducin beta like 2) - Rat Genome Database

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Gene: TBL2 (transducin beta like 2) Homo sapiens
Analyze
Symbol: TBL2
Name: transducin beta like 2
RGD ID: 1354068
HGNC Page HGNC:11586
Description: Enables phosphoprotein binding activity; protein kinase binding activity; and translation initiation factor binding activity. Involved in cellular response to glucose starvation; cellular response to hypoxia; and endoplasmic reticulum unfolded protein response. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434N024; MGC134739; transducin (beta)-like 2; transducin -like 2; transducin beta-like protein 2; WBSCR13; williams-Beuren syndrome chromosomal region 13 protein; Williams-Beuren syndrome chromosome region 13; WS beta-transducin repeats protein; WS-betaTRP
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
GRCh38773,567,537 - 73,578,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,567,537 - 73,578,791 (-)EnsemblGRCh38hg38GRCh38
GRCh37772,981,867 - 72,992,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,621,210 - 72,630,949 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,428,652 - 72,437,623NCBI
Celera768,461,190 - 68,470,928 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,865,043 - 68,874,781 (-)NCBIHuRef
CHM1_1773,128,702 - 73,138,439 (-)NCBICHM1_1
T2T-CHM13v2.0774,768,023 - 74,779,401 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,316,346 - 72,326,085 (-)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)
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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9860302   PMID:10575226   PMID:11230166   PMID:12477932   PMID:12975309   PMID:16140988   PMID:18029348   PMID:18193043   PMID:18193044   PMID:18596051   PMID:18996102   PMID:19615732  
PMID:19656773   PMID:20562859   PMID:20570916   PMID:20571754   PMID:20679960   PMID:20686565   PMID:20864672   PMID:20972250   PMID:21145461   PMID:21182205   PMID:21873635   PMID:21909109  
PMID:22658674   PMID:22810586   PMID:22939629   PMID:22952844   PMID:23251661   PMID:23505323   PMID:23564352   PMID:24097068   PMID:24457600   PMID:24981860   PMID:25288136   PMID:25393282  
PMID:25921289   PMID:25976671   PMID:26186194   PMID:26239904   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26871637   PMID:26972000   PMID:27432908   PMID:27684187   PMID:28514442  
PMID:28675297   PMID:28692057   PMID:28695742   PMID:29117863   PMID:29229926   PMID:29298432   PMID:29395067   PMID:29615496   PMID:29802200   PMID:30194290   PMID:30196744   PMID:30397336  
PMID:30804502   PMID:30833792   PMID:30940648   PMID:30997501   PMID:31048545   PMID:31056421   PMID:31059266   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31527615   PMID:31536960  
PMID:31586073   PMID:31616248   PMID:31871319   PMID:31980649   PMID:32149426   PMID:32344865   PMID:32513696   PMID:32687490   PMID:32788342   PMID:32807901   PMID:32811528   PMID:32838362  
PMID:32877691   PMID:32913203   PMID:33024031   PMID:33144569   PMID:33301849   PMID:33306668   PMID:33543443   PMID:33644029   PMID:33731348   PMID:33742100   PMID:33845483   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34591612   PMID:34718347   PMID:34732716   PMID:35008187   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35439318   PMID:35509820  
PMID:35676659   PMID:35777956   PMID:35819319   PMID:35850772   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36273042   PMID:36526897   PMID:36537216   PMID:36610398   PMID:36717926  
PMID:36774506   PMID:36779763   PMID:37477745   PMID:37827155   PMID:37931956  


Genomics

Comparative Map Data
TBL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,567,537 - 73,578,579 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,567,537 - 73,578,791 (-)EnsemblGRCh38hg38GRCh38
GRCh37772,981,867 - 72,992,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,621,210 - 72,630,949 (-)NCBINCBI36Build 36hg18NCBI36
Build 34772,428,652 - 72,437,623NCBI
Celera768,461,190 - 68,470,928 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef768,865,043 - 68,874,781 (-)NCBIHuRef
CHM1_1773,128,702 - 73,138,439 (-)NCBICHM1_1
T2T-CHM13v2.0774,768,023 - 74,779,401 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,316,346 - 72,326,085 (-)NCBI
Tbl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,178,288 - 135,192,727 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,178,511 - 135,194,614 (+)EnsemblGRCm39 Ensembl
GRCm385135,149,429 - 135,163,873 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,149,657 - 135,165,760 (+)EnsemblGRCm38mm10GRCm38
MGSCv375135,625,581 - 135,638,532 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365135,434,338 - 135,447,289 (+)NCBIMGSCv36mm8
Celera5132,160,905 - 132,173,856 (+)NCBICelera
Cytogenetic Map5G2NCBI
cM Map575.02NCBI
Tbl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,154,150 - 27,168,446 (-)NCBIGRCr8
mRatBN7.21221,517,600 - 21,531,896 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,520,682 - 21,531,896 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,659,266 - 22,673,574 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01223,271,592 - 23,285,898 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01222,338,055 - 22,352,363 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01224,565,843 - 24,578,855 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1224,565,849 - 24,578,786 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,563,420 - 26,576,892 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1223,281,125 - 23,294,137 (-)NCBICelera
Cytogenetic Map12q12NCBI
Tbl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,128,188 - 14,134,314 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,128,847 - 14,134,314 (+)NCBIChiLan1.0ChiLan1.0
TBL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2691,323,042 - 91,332,410 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17139,587,669 - 139,598,916 (+)NCBINHGRI_mPanPan1
PanPan1.1780,721,616 - 80,730,685 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl780,721,616 - 80,730,685 (-)Ensemblpanpan1.1panPan2
TBL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,656,158 - 6,664,900 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,656,035 - 6,660,963 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha68,353,560 - 8,362,218 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.066,471,242 - 6,479,899 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl66,471,231 - 6,516,598 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.166,460,693 - 6,469,345 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.066,408,447 - 6,417,094 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,572,182 - 6,580,809 (+)NCBIUU_Cfam_GSD_1.0
Tbl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,202,659 - 131,210,924 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,824,770 - 2,833,922 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365432,825,990 - 2,833,908 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,876,973 - 10,892,404 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,850,347 - 10,892,441 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2310,565,696 - 10,592,121 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,478,008 - 9,486,834 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,478,061 - 9,488,989 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660706,988,003 - 6,999,111 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474014,210,246 - 14,219,701 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474014,210,310 - 14,218,600 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBL2
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7q11.23(chr7:72718277-74142256) copy number gain 7q11.23 microduplication syndrome [RCV003320440] Chr7:72718277..74142256 [GRCh37]
Chr7:7q11.23		 pathogenic
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(chr7:73352304-76722261)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 7q11.22-11.23(chr7:71461127-73614730)x1 copy number loss See cases [RCV000135816] Chr7:71461127..73614730 [GRCh38]
Chr7:70926112..72806397 [GRCh37]
Chr7:70564048..72666996 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic|likely 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 7q11.22-21.11(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(chr7:73280574-74728722)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 7q11.23(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 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(chr7:72721449-73959106) copy number loss Williams syndrome [RCV000767559] Chr7:72721449..73959106 [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(chr7:72713253-74142256)x1 copy number loss See cases [RCV000449356] Chr7:72713253..74142256 [GRCh37]
Chr7:7q11.23		 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 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(chr7:72718277-74141603)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(chr7:72691242-74142190)x1 copy number loss See cases [RCV000510243] Chr7:72691242..74142190 [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 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(chr7:72701018-74141493)x1 copy number loss See cases [RCV000510144] Chr7:72701018..74141493 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 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 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_012453.4(TBL2):c.690G>A (p.Met230Ile) single nucleotide variant Inborn genetic diseases [RCV003292041] Chr7:73572879 [GRCh38]
Chr7:72987209 [GRCh37]
Chr7:7q11.23		 uncertain significance
Single allele deletion not provided [RCV000768460] Chr7:72682338..74141250 [GRCh37]
Chr7:7q11.23		 likely 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(chr7:72772522-74133319) 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(chr7:72686958-73113924)x3 copy number gain not provided [RCV000682843] Chr7:72686958..73113924 [GRCh37]
Chr7:7q11.23		 uncertain significance
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(chr7:72577021-74859638)x3 copy number gain not provided [RCV000682898] Chr7:72577021..74859638 [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(chr7:72700524-74069858)x3 copy number gain not provided [RCV000682883] Chr7:72700524..74069858 [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(chr7:72718123-74141784)x1 copy number loss not provided [RCV000682885] Chr7:72718123..74141784 [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(chr7:72589515-74386749)x1 copy number loss not provided [RCV000682894] Chr7:72589515..74386749 [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
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 7q11.23(chr7:72650265-74138603)x1 copy number loss not provided [RCV000746791] Chr7:72650265..74138603 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1 copy number loss not provided [RCV000746794] Chr7:72722981..74200092 [GRCh37]
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(chr7:72305671-74196360)x1 copy number loss not provided [RCV000746789] Chr7:72305671..74196360 [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 7q11.23(chr7:72719386-74218536)x1 copy number loss not provided [RCV000746793] Chr7:72719386..74218536 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1 copy number loss not provided [RCV000746790] Chr7:72650106..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
NM_012453.4(TBL2):c.1109G>A (p.Arg370Gln) single nucleotide variant Inborn genetic diseases [RCV003244421] Chr7:73570742 [GRCh38]
Chr7:72985072 [GRCh37]
Chr7:7q11.23		 likely benign
Single allele duplication Intestinal malrotation [RCV000754986] Chr7:72634873..74142327 [GRCh37]
Chr7:7q11.23		 likely pathogenic
NM_012453.4(TBL2):c.996C>T (p.Ala332=) single nucleotide variant not provided [RCV000951092] Chr7:73570855 [GRCh38]
Chr7:72985185 [GRCh37]
Chr7:7q11.23		 benign|likely benign
NM_012453.4(TBL2):c.405G>A (p.Glu135=) single nucleotide variant not provided [RCV000972765] Chr7:73573979 [GRCh38]
Chr7:72988309 [GRCh37]
Chr7:7q11.23		 benign
NM_012453.4(TBL2):c.567G>A (p.Ala189=) single nucleotide variant not provided [RCV000971279] Chr7:73573351 [GRCh38]
Chr7:72987681 [GRCh37]
Chr7:7q11.23		 benign|likely benign
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [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
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(chr7:72772522-74133319) copy number loss Williams syndrome [RCV000767640] Chr7:72772522..74133319 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787466] Chr7:72726590..74142329 [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(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [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
Single allele deletion Williams syndrome [RCV001172267] Chr7:72657228..74160300 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_012453.4(TBL2):c.1002G>A (p.Pro334=) single nucleotide variant not provided [RCV000907666] Chr7:73570849 [GRCh38]
Chr7:72985179 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.261+4C>T single nucleotide variant not provided [RCV000907983] Chr7:73574379 [GRCh38]
Chr7:72988709 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.687G>A (p.Gln229=) single nucleotide variant not provided [RCV000954031] Chr7:73572882 [GRCh38]
Chr7:72987212 [GRCh37]
Chr7:7q11.23		 benign
NM_012453.4(TBL2):c.770A>C (p.Glu257Ala) single nucleotide variant not provided [RCV000907547] Chr7:73571297 [GRCh38]
Chr7:72985627 [GRCh37]
Chr7:7q11.23		 benign
NM_012453.4(TBL2):c.807G>T (p.Val269=) single nucleotide variant not provided [RCV000898523] Chr7:73571260 [GRCh38]
Chr7:72985590 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.1268G>A (p.Ser423Asn) single nucleotide variant not provided [RCV000910493] Chr7:73570583 [GRCh38]
Chr7:72984913 [GRCh37]
Chr7:7q11.23		 likely benign
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(chr7:72722981-74141840)x3 copy number gain See cases [RCV001194543] Chr7:72722981..74141840 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_012453.4(TBL2):c.20C>T (p.Ser7Leu) single nucleotide variant Inborn genetic diseases [RCV003259032]|Microcephaly [RCV001252930] Chr7:73578530 [GRCh38]
Chr7:72992860 [GRCh37]
Chr7:7q11.23		 uncertain significance
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
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(chr7:72659674-74164894)x3 copy number gain not provided [RCV001258797] Chr7:72659674..74164894 [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(chr7:71847968-73391310) 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
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1 copy number loss See cases [RCV002285079] Chr7:72718277..74142190 [GRCh37]
Chr7:7q11.23		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 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
NC_000007.14:g.73304277_74727414del deletion Williams syndrome [RCV003318489] Chr7:73304277..74727414 [GRCh38]
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(chr7:72700996-74142256) copy number loss Williams syndrome [RCV002280681] Chr7:72700996..74142256 [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(chr7:72700127-74142190) copy number loss Williams syndrome [RCV002280684] Chr7:72700127..74142190 [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(chr7:72589195-74225562) copy number loss Williams syndrome [RCV002280675] Chr7:72589195..74225562 [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 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(chr7:72645013-74142190) 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 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(chr7:72643632-74143060)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(chr7:72654782-74142190)x1 copy number loss not provided [RCV002472631] Chr7:72654782..74142190 [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
Single allele deletion Williams syndrome [RCV003234736] Chr7:73214501..74773500 [GRCh38]
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_012453.4(TBL2):c.900T>A (p.Asp300Glu) single nucleotide variant Inborn genetic diseases [RCV002749592] Chr7:73570951 [GRCh38]
Chr7:72985281 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1273C>T (p.Arg425Cys) single nucleotide variant Inborn genetic diseases [RCV002818250] Chr7:73570578 [GRCh38]
Chr7:72984908 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.398A>G (p.Asn133Ser) single nucleotide variant Inborn genetic diseases [RCV002777005] Chr7:73573986 [GRCh38]
Chr7:72988316 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1157G>A (p.Arg386His) single nucleotide variant Inborn genetic diseases [RCV002817476] Chr7:73570694 [GRCh38]
Chr7:72985024 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1232A>G (p.Glu411Gly) single nucleotide variant Inborn genetic diseases [RCV002864981] Chr7:73570619 [GRCh38]
Chr7:72984949 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1007G>A (p.Arg336His) single nucleotide variant Inborn genetic diseases [RCV002950785] Chr7:73570844 [GRCh38]
Chr7:72985174 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.673A>G (p.Ile225Val) single nucleotide variant Inborn genetic diseases [RCV002758646] Chr7:73572896 [GRCh38]
Chr7:72987226 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.167C>T (p.Ser56Leu) single nucleotide variant Inborn genetic diseases [RCV002668155] Chr7:73574477 [GRCh38]
Chr7:72988807 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.733G>T (p.Ala245Ser) single nucleotide variant Inborn genetic diseases [RCV002743568] Chr7:73571334 [GRCh38]
Chr7:72985664 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1079G>C (p.Arg360Pro) single nucleotide variant Inborn genetic diseases [RCV002893716] Chr7:73570772 [GRCh38]
Chr7:72985102 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1184C>T (p.Ala395Val) single nucleotide variant Inborn genetic diseases [RCV002988915] Chr7:73570667 [GRCh38]
Chr7:72984997 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.116G>A (p.Ser39Asn) single nucleotide variant Inborn genetic diseases [RCV002941165] Chr7:73578434 [GRCh38]
Chr7:72992764 [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_012453.4(TBL2):c.85C>T (p.Arg29Trp) single nucleotide variant Inborn genetic diseases [RCV003218122] Chr7:73578465 [GRCh38]
Chr7:72992795 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.1190G>A (p.Arg397Gln) single nucleotide variant Inborn genetic diseases [RCV003185966] Chr7:73570661 [GRCh38]
Chr7:72984991 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.343C>T (p.Arg115Cys) single nucleotide variant Inborn genetic diseases [RCV003190746] Chr7:73574041 [GRCh38]
Chr7:72988371 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.928G>A (p.Val310Met) single nucleotide variant Inborn genetic diseases [RCV003285035] Chr7:73570923 [GRCh38]
Chr7:72985253 [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
NM_012453.4(TBL2):c.190T>C (p.Tyr64His) single nucleotide variant Inborn genetic diseases [RCV003361449] Chr7:73574454 [GRCh38]
Chr7:72988784 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.701A>C (p.His234Pro) single nucleotide variant Inborn genetic diseases [RCV003348494] Chr7:73572868 [GRCh38]
Chr7:72987198 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_012453.4(TBL2):c.875G>A (p.Arg292Gln) single nucleotide variant Inborn genetic diseases [RCV003347178]|not provided [RCV003427742] Chr7:73571192 [GRCh38]
Chr7:72985522 [GRCh37]
Chr7:7q11.23		 likely benign|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_012453.4(TBL2):c.117C>A (p.Ser39Arg) single nucleotide variant not provided [RCV003433861] Chr7:73578433 [GRCh38]
Chr7:72992763 [GRCh37]
Chr7:7q11.23		 likely benign
NM_012453.4(TBL2):c.409G>A (p.Asp137Asn) single nucleotide variant not provided [RCV003423611] Chr7:73573975 [GRCh38]
Chr7:72988305 [GRCh37]
Chr7:7q11.23		 uncertain significance
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
NM_012453.4(TBL2):c.879-3C>T single nucleotide variant not provided [RCV003885303] Chr7:73570975 [GRCh38]
Chr7:72985305 [GRCh37]
Chr7:7q11.23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7867
Count of miRNA genes:1177
Interacting mature miRNAs:1509
Transcripts:ENST00000305632, ENST00000417008, ENST00000424598, ENST00000426966, ENST00000432538, ENST00000433464, ENST00000435792, ENST00000437521, ENST00000450285, ENST00000452125, ENST00000452475, ENST00000458466, ENST00000459913, ENST00000465279, ENST00000468669, ENST00000469518, ENST00000476136, ENST00000479892, ENST00000488915, ENST00000495885, ENST00000496056
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D7S2635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,984,028 - 72,984,284UniSTSGRCh37
Build 36772,621,964 - 72,622,220RGDNCBI36
Celera768,461,944 - 68,462,200RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,865,797 - 68,866,053UniSTS
CRA_TCAGchr7v2772,317,100 - 72,317,356UniSTS
D7S2092E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,984,072 - 72,984,221UniSTSGRCh37
Build 36772,622,008 - 72,622,157RGDNCBI36
Celera768,461,988 - 68,462,137RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,865,841 - 68,865,990UniSTS
CRA_TCAGchr7v2772,317,144 - 72,317,293UniSTS
Stanford-G3 RH Map73330.0UniSTS
GeneMap99-GB4 RH Map7428.21UniSTS
NCBI RH Map7880.2UniSTS
GeneMap99-G3 RH Map73330.0UniSTS
D7S2828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37772,984,004 - 72,984,269UniSTSGRCh37
Build 36772,621,940 - 72,622,205RGDNCBI36
Celera768,461,920 - 68,462,185RGD
Cytogenetic Map7q11.23UniSTS
HuRef768,865,773 - 68,866,038UniSTS
CRA_TCAGchr7v2772,317,076 - 72,317,341UniSTS
GeneMap99-GB4 RH Map7422.74UniSTS
Whitehead-RH Map7398.4UniSTS
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 1827 1310 1395 320 1089 172 3329 662 1348 296 1443 1511 163 1 1064 1878 6 2
Low 612 1679 331 304 859 293 1028 1535 2386 123 17 102 11 140 910
Below cutoff 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF056183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ025092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX376493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX401268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX420755 (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
  DB460708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB342985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB711108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000305632   ⟹   ENSP00000307260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,567,537 - 73,578,579 (-)Ensembl
RefSeq Acc Id: ENST00000417008   ⟹   ENSP00000407503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,570,008 - 73,578,554 (-)Ensembl
RefSeq Acc Id: ENST00000424598   ⟹   ENSP00000398195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,569,660 - 73,578,576 (-)Ensembl
RefSeq Acc Id: ENST00000426966   ⟹   ENSP00000410737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,570,886 - 73,578,619 (-)Ensembl
RefSeq Acc Id: ENST00000432538   ⟹   ENSP00000413979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,570,195 - 73,578,336 (-)Ensembl
RefSeq Acc Id: ENST00000433464   ⟹   ENSP00000404242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,570,411 - 73,578,599 (-)Ensembl
RefSeq Acc Id: ENST00000435792   ⟹   ENSP00000408255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,572,878 - 73,578,676 (-)Ensembl
RefSeq Acc Id: ENST00000437521   ⟹   ENSP00000400569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,572,848 - 73,578,371 (-)Ensembl
RefSeq Acc Id: ENST00000450285   ⟹   ENSP00000409820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,569,660 - 73,578,590 (-)Ensembl
RefSeq Acc Id: ENST00000452125   ⟹   ENSP00000414865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,321 - 73,578,354 (-)Ensembl
RefSeq Acc Id: ENST00000452475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,571,584 - 73,578,634 (-)Ensembl
RefSeq Acc Id: ENST00000458466   ⟹   ENSP00000406418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,574,477 - 73,578,599 (-)Ensembl
RefSeq Acc Id: ENST00000459913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,569,660 - 73,578,269 (-)Ensembl
RefSeq Acc Id: ENST00000465279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,401 - 73,578,347 (-)Ensembl
RefSeq Acc Id: ENST00000468669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,574,445 - 73,578,317 (-)Ensembl
RefSeq Acc Id: ENST00000469518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,879 - 73,576,748 (-)Ensembl
RefSeq Acc Id: ENST00000476136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,341 - 73,578,419 (-)Ensembl
RefSeq Acc Id: ENST00000479892   ⟹   ENSP00000480898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,343 - 73,578,791 (-)Ensembl
RefSeq Acc Id: ENST00000488915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,570,471 - 73,571,394 (-)Ensembl
RefSeq Acc Id: ENST00000495885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,571,982 - 73,573,332 (-)Ensembl
RefSeq Acc Id: ENST00000496056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,573,832 - 73,578,576 (-)Ensembl
RefSeq Acc Id: ENST00000610724   ⟹   ENSP00000484750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,569,665 - 73,578,560 (-)Ensembl
RefSeq Acc Id: NM_001362660   ⟹   NP_001349589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,579 (-)NCBI
T2T-CHM13v2.0774,768,023 - 74,779,065 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362661   ⟹   NP_001349590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,579 (-)NCBI
T2T-CHM13v2.0774,768,023 - 74,779,065 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362662   ⟹   NP_001349591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,579 (-)NCBI
T2T-CHM13v2.0774,768,023 - 74,779,065 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362663   ⟹   NP_001349592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,387 (-)NCBI
T2T-CHM13v2.0774,768,023 - 74,778,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012453   ⟹   NP_036585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,579 (-)NCBI
GRCh37772,983,274 - 72,993,013 (-)RGD
GRCh37772,983,274 - 72,993,013 (-)NCBI
Build 36772,621,210 - 72,630,949 (-)NCBI Archive
Celera768,461,190 - 68,470,928 (-)RGD
HuRef768,865,043 - 68,874,781 (-)ENTREZGENE
CHM1_1773,128,702 - 73,138,439 (-)NCBI
T2T-CHM13v2.0774,768,023 - 74,779,065 (-)NCBI
CRA_TCAGchr7v2772,316,346 - 72,326,085 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006715923   ⟹   XP_006715986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,579 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446709   ⟹   XP_024302477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,387 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420185   ⟹   XP_047276141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,387 (-)NCBI
RefSeq Acc Id: XM_047420186   ⟹   XP_047276142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,387 (-)NCBI
RefSeq Acc Id: XM_047420187   ⟹   XP_047276143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,217 (-)NCBI
RefSeq Acc Id: XM_047420188   ⟹   XP_047276144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,567,537 - 73,578,387 (-)NCBI
RefSeq Acc Id: XM_047420189   ⟹   XP_047276145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,571,755 - 73,578,579 (-)NCBI
RefSeq Acc Id: XM_054357866   ⟹   XP_054213841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,768,023 - 74,779,062 (-)NCBI
RefSeq Acc Id: XM_054357867   ⟹   XP_054213842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,768,023 - 74,779,401 (-)NCBI
RefSeq Acc Id: XM_054357868   ⟹   XP_054213843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,768,023 - 74,778,873 (-)NCBI
RefSeq Acc Id: XM_054357869   ⟹   XP_054213844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,768,023 - 74,778,873 (-)NCBI
RefSeq Acc Id: XM_054357870   ⟹   XP_054213845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,768,023 - 74,778,703 (-)NCBI
RefSeq Acc Id: XM_054357871   ⟹   XP_054213846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0774,772,241 - 74,779,065 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001349589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349591 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349592 (Get FASTA)   NCBI Sequence Viewer  
  NP_036585 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715986 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302477 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276141 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276142 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276143 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276144 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213842 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213843 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213844 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213845 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213846 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD28083 (Get FASTA)   NCBI Sequence Viewer  
  AAF06823 (Get FASTA)   NCBI Sequence Viewer  
  AAF06824 (Get FASTA)   NCBI Sequence Viewer  
  AAH12938 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88882 (Get FASTA)   NCBI Sequence Viewer  
  ADO22302 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34055 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34056 (Get FASTA)   NCBI Sequence Viewer  
  BAC11093 (Get FASTA)   NCBI Sequence Viewer  
  BAG37099 (Get FASTA)   NCBI Sequence Viewer  
  BAG63612 (Get FASTA)   NCBI Sequence Viewer  
  BAG63621 (Get FASTA)   NCBI Sequence Viewer  
  CAB45751 (Get FASTA)   NCBI Sequence Viewer  
  CAR81493 (Get FASTA)   NCBI Sequence Viewer  
  CAS91509 (Get FASTA)   NCBI Sequence Viewer  
  EAW69670 (Get FASTA)   NCBI Sequence Viewer  
  EAW69671 (Get FASTA)   NCBI Sequence Viewer  
  EAW69672 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307260
  ENSP00000307260.4
  ENSP00000398195.1
  ENSP00000400569.1
  ENSP00000404242.1
  ENSP00000406418.1
  ENSP00000407503.1
  ENSP00000408255.1
  ENSP00000409820.1
  ENSP00000410737.1
  ENSP00000413979
  ENSP00000413979.1
  ENSP00000414865.1
  ENSP00000480898.1
GenBank Protein Q9Y4P3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036585   ⟸   NM_012453
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UQE2 (UniProtKB/Swiss-Prot),   Q9Y4P3 (UniProtKB/Swiss-Prot),   A0A384MDS4 (UniProtKB/TrEMBL),   A0A0S2Z5F3 (UniProtKB/TrEMBL),   B2RB52 (UniProtKB/TrEMBL),   Q8N2L6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715986   ⟸   XM_006715923
- Peptide Label: isoform X1
- UniProtKB: B4DY50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302477   ⟸   XM_024446709
- Peptide Label: isoform X1
- UniProtKB: B4DY50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349590   ⟸   NM_001362661
- Peptide Label: isoform 3
- UniProtKB: B4DY59 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349591   ⟸   NM_001362662
- Peptide Label: isoform 3
- UniProtKB: B4DY59 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349589   ⟸   NM_001362660
- Peptide Label: isoform 2
- UniProtKB: B4DY50 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349592   ⟸   NM_001362663
- Peptide Label: isoform 3
- UniProtKB: B4DY59 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000398195   ⟸   ENST00000424598
RefSeq Acc Id: ENSP00000409820   ⟸   ENST00000450285
RefSeq Acc Id: ENSP00000480898   ⟸   ENST00000479892
RefSeq Acc Id: ENSP00000410737   ⟸   ENST00000426966
RefSeq Acc Id: ENSP00000414865   ⟸   ENST00000452125
RefSeq Acc Id: ENSP00000484750   ⟸   ENST00000610724
RefSeq Acc Id: ENSP00000407503   ⟸   ENST00000417008
RefSeq Acc Id: ENSP00000406418   ⟸   ENST00000458466
RefSeq Acc Id: ENSP00000413979   ⟸   ENST00000432538
RefSeq Acc Id: ENSP00000404242   ⟸   ENST00000433464
RefSeq Acc Id: ENSP00000408255   ⟸   ENST00000435792
RefSeq Acc Id: ENSP00000307260   ⟸   ENST00000305632
RefSeq Acc Id: ENSP00000400569   ⟸   ENST00000437521
RefSeq Acc Id: XP_047276142   ⟸   XM_047420186
- Peptide Label: isoform X2
- UniProtKB: E9PF19 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276144   ⟸   XM_047420188
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276141   ⟸   XM_047420185
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047276143   ⟸   XM_047420187
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047276145   ⟸   XM_047420189
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054213842   ⟸   XM_054357867
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213841   ⟸   XM_054357866
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213844   ⟸   XM_054357869
- Peptide Label: isoform X2
- UniProtKB: E9PF19 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213843   ⟸   XM_054357868
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213845   ⟸   XM_054357870
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213846   ⟸   XM_054357871
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4P3-F1-model_v2 AlphaFold Q9Y4P3 1-447 view protein structure

Promoters
RGD ID:6806258
Promoter ID:HG_KWN:57959
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000347641
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,623,041 - 72,623,541 (-)MPROMDB
RGD ID:6806257
Promoter ID:HG_KWN:57960
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000347640
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,625,216 - 72,626,422 (-)MPROMDB
RGD ID:6813313
Promoter ID:HG_ACW:72775
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TBL2.LAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,626,641 - 72,627,141 (-)MPROMDB
RGD ID:6806256
Promoter ID:HG_KWN:57961
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000347639
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,628,716 - 72,629,216 (-)MPROMDB
RGD ID:6806254
Promoter ID:HG_KWN:57962
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:OTTHUMT00000252233,   OTTHUMT00000347622,   OTTHUMT00000347626,   OTTHUMT00000347627,   OTTHUMT00000347628,   OTTHUMT00000347629,   OTTHUMT00000347630,   OTTHUMT00000347631,   OTTHUMT00000347632,   OTTHUMT00000347633,   OTTHUMT00000347634,   OTTHUMT00000347635,   OTTHUMT00000347636,   OTTHUMT00000347637,   OTTHUMT00000347638,   UC003TYI.1,   UC010LBG.1,   UC010LBH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36772,630,756 - 72,631,322 (-)MPROMDB
RGD ID:6853124
Promoter ID:EP74383
Type:initiation region
Name:HS_TBL2
Description:Transducin (beta)-like 2.
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 36772,630,865 - 72,630,925EPD
RGD ID:7210765
Promoter ID:EPDNEW_H11129
Type:initiation region
Name:TBL2_1
Description:transducin beta like 2
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
GRCh38773,578,579 - 73,578,639EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11586 AgrOrtholog
COSMIC TBL2 COSMIC
Ensembl Genes ENSG00000106638 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000305632 ENTREZGENE
  ENST00000305632.11 UniProtKB/Swiss-Prot
  ENST00000417008.5 UniProtKB/TrEMBL
  ENST00000424598.5 UniProtKB/TrEMBL
  ENST00000426966.5 UniProtKB/TrEMBL
  ENST00000432538 ENTREZGENE
  ENST00000432538.5 UniProtKB/TrEMBL
  ENST00000433464.5 UniProtKB/TrEMBL
  ENST00000435792.5 UniProtKB/TrEMBL
  ENST00000437521.5 UniProtKB/TrEMBL
  ENST00000450285.5 UniProtKB/TrEMBL
  ENST00000452125.5 UniProtKB/TrEMBL
  ENST00000452475 ENTREZGENE
  ENST00000458466.1 UniProtKB/TrEMBL
  ENST00000479892.5 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106638 GTEx
HGNC ID HGNC:11586 ENTREZGENE
Human Proteome Map TBL2 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WBSCR13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26608 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26608 ENTREZGENE
OMIM 605842 OMIM
PANTHER PTHR44321 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSDUCIN BETA-LIKE PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36350 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WXC6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5C1_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5F3 ENTREZGENE, UniProtKB/TrEMBL
  A0A384MDS4 ENTREZGENE, UniProtKB/TrEMBL
  B2RB52 ENTREZGENE, UniProtKB/TrEMBL
  B4DY50 ENTREZGENE, UniProtKB/TrEMBL
  B4DY59 ENTREZGENE, UniProtKB/TrEMBL
  E9PF19 ENTREZGENE, UniProtKB/TrEMBL
  F2Z3G3_HUMAN UniProtKB/TrEMBL
  F8WB62_HUMAN UniProtKB/TrEMBL
  F8WBD9_HUMAN UniProtKB/TrEMBL
  F8WBP2_HUMAN UniProtKB/TrEMBL
  F8WCC7_HUMAN UniProtKB/TrEMBL
  F8WCR3_HUMAN UniProtKB/TrEMBL
  F8WDI9_HUMAN UniProtKB/TrEMBL
  F8WEC3_HUMAN UniProtKB/TrEMBL
  Q8N2L6 ENTREZGENE, UniProtKB/TrEMBL
  Q96E41_HUMAN UniProtKB/TrEMBL
  Q9UQE2 ENTREZGENE
  Q9Y4P3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9UQE2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-02 TBL2  transducin beta like 2  TBL2  transducin (beta)-like 2  Symbol and/or name change 5135510 APPROVED