UPF3B (UPF3B regulator of nonsense mediated mRNA decay) - Rat Genome Database

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Gene: UPF3B (UPF3B regulator of nonsense mediated mRNA decay) Homo sapiens
Analyze
Symbol: UPF3B
Name: UPF3B regulator of nonsense mediated mRNA decay
RGD ID: 1346078
HGNC Page HGNC
Description: Exhibits mRNA binding activity. Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay and positive regulation of translation. Localizes to centriolar satellite; cytosol; and nucleus. Implicated in non-syndromic X-linked intellectual disability 82 and syndromic X-linked intellectual disability 14.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HUPF3B; hUpf3p-X; mental retardation, X-linked 62; MRX62; MRX82; MRXS14; nonfunctional UPF3B regulator of nonsense mediated mRNA decay; nonsense mRNA reducing factor 3B; regulator of nonsense transcripts 3B; RENT3B; up-frameshift suppressor 3 homolog B; up-frameshift suppressor 3 homolog on chromosome X; UPF3 regulator of nonsense transcripts homolog B; UPF3 regulator of nonsense transcripts homolog B (yeast); UPF3B pseudogene 1; UPF3B pseudogene 2; UPF3B pseudogene 3; UPF3B, regulator of nonsense mediated mRNA decay; UPF3BP1; UPF3BP2; UPF3BP3; Upf3p-X; UPF3X
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100422368  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX119,805,311 - 119,852,998 (-)EnsemblGRCh38hg38GRCh38
GRCh38X119,805,311 - 119,853,028 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,967,985 - 118,986,926 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,852,017 - 118,870,996 (-)NCBINCBI36hg18NCBI36
Build 34X118,749,870 - 118,768,850NCBI
CeleraX119,422,616 - 119,441,635 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,461,263 - 108,479,939 (-)NCBIHuRef
CHM1_1X118,879,087 - 118,898,087 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriolar satellite  (IDA)
cytoplasm  (IBA,NAS)
cytosol  (IDA,TAS)
exon-exon junction complex  (IDA)
nucleolus  (IBA,IDA)
nucleoplasm  (IDA,TAS)
nucleus  (NAS)

Molecular Function

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

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormality of the musculature  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Arachnodactyly  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Camptodactyly of finger  (IAGP)
Cataract  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate tall stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial palsy  (IAGP)
Frontal bossing  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hallucinations  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint hyperflexibility  (IAGP)
Kyphosis  (IAGP)
Long face  (IAGP)
Long foot  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macroorchidism  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Nasal speech  (IAGP)
Neurological speech impairment  (IAGP)
Obesity  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Periorbital fullness  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding ear  (IAGP)
Psychosis  (IAGP)
Pyloric stenosis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short philtrum  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Small for gestational age  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Urinary incontinence  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8012384   PMID:9933612   PMID:11113196   PMID:11163187   PMID:11546873   PMID:11546874   PMID:12093754   PMID:12226669   PMID:12417715   PMID:12477932   PMID:12554878   PMID:12718880  
PMID:12723973   PMID:14527413   PMID:14702039   PMID:15004547   PMID:15146197   PMID:15231747   PMID:15361857   PMID:15635413   PMID:15680326   PMID:16169070   PMID:16209946   PMID:16344560  
PMID:16452507   PMID:16601204   PMID:17194930   PMID:17704778   PMID:18029348   PMID:18066079   PMID:18256688   PMID:18369367   PMID:18423201   PMID:18976975   PMID:19238151   PMID:19410547  
PMID:19417104   PMID:19478851   PMID:19503078   PMID:19615732   PMID:19864460   PMID:19884259   PMID:20371770   PMID:20479275   PMID:20479756   PMID:20930030   PMID:21145460   PMID:21145461  
PMID:21873635   PMID:22182939   PMID:22609145   PMID:22658674   PMID:22681889   PMID:22939629   PMID:22957832   PMID:22961380   PMID:23084401   PMID:23125841   PMID:23305486   PMID:23788676  
PMID:23891004   PMID:23925499   PMID:24163370   PMID:24778252   PMID:25281560   PMID:26012578   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26358559   PMID:26496610   PMID:26673895  
PMID:27025967   PMID:27565346   PMID:27634302   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28695742   PMID:28899899   PMID:29395067   PMID:29528287   PMID:29802200   PMID:30021884  
PMID:30209976   PMID:30940648   PMID:30948266   PMID:31091453   PMID:31586073   PMID:31737052   PMID:31822558   PMID:32877691   PMID:33001583  


Genomics

Comparative Map Data
UPF3B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX119,805,311 - 119,852,998 (-)EnsemblGRCh38hg38GRCh38
GRCh38X119,805,311 - 119,853,028 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,967,985 - 118,986,926 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,852,017 - 118,870,996 (-)NCBINCBI36hg18NCBI36
Build 34X118,749,870 - 118,768,850NCBI
CeleraX119,422,616 - 119,441,635 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,461,263 - 108,479,939 (-)NCBIHuRef
CHM1_1X118,879,087 - 118,898,087 (-)NCBICHM1_1
Upf3b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X36,355,331 - 36,374,124 (-)NCBIGRCm39mm39
GRCm39 EnsemblX36,355,331 - 36,373,975 (-)Ensembl
GRCm38X37,091,678 - 37,110,471 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX37,091,678 - 37,110,322 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X34,631,829 - 34,650,317 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X33,523,279 - 33,541,767 (-)NCBImm8
CeleraX23,815,464 - 23,833,952 (-)NCBICelera
Cytogenetic MapXA3.3NCBI
Upf3b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X116,335,308 - 116,353,332 (-)NCBI
Rnor_6.0 EnsemblX123,713,339 - 123,731,385 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X123,713,327 - 123,731,431 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X123,849,755 - 123,867,703 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X7,801,655 - 7,819,849 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX115,562,637 - 115,580,545 (-)NCBICelera
Cytogenetic MapXq35NCBI
Upf3b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955534176,522 - 193,319 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955534176,553 - 193,033 (+)NCBIChiLan1.0ChiLan1.0
UPF3B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X119,292,231 - 119,311,632 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,292,231 - 119,311,632 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X108,897,140 - 108,916,620 (-)NCBIMhudiblu_PPA_v0panPan3
UPF3B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X91,835,845 - 91,851,755 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX91,836,727 - 91,851,640 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX77,910,224 - 77,926,190 (-)NCBI
UMICH_Zoey_3.1X91,027,322 - 91,043,287 (-)NCBI
UNSW_CanFamBas_1.0X92,787,502 - 92,803,460 (-)NCBI
UU_Cfam_GSD_1.0X92,515,688 - 92,531,655 (-)NCBI
Upf3b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X90,876,197 - 90,894,205 (-)NCBI
SpeTri2.0NW_00493647910,093,290 - 10,111,293 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UPF3B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,182,269 - 98,206,097 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,184,646 - 98,206,135 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,406,198 - 113,427,250 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UPF3B
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Upf3b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248953,762,087 - 3,781,662 (-)NCBI

Position Markers
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
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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
RH47685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,971,936 - 118,972,375UniSTSGRCh37
CeleraX119,426,563 - 119,427,002UniSTS
Cytogenetic MapXq25-q26UniSTS
HuRefX108,464,858 - 108,465,297UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1189
Count of miRNA genes:551
Interacting mature miRNAs:603
Transcripts:ENST00000276201, ENST00000345865, ENST00000478840
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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 1924 1345 1191 262 1133 157 3368 1057 2793 259 1426 1517 121 1 904 1989 3
Low 515 1633 534 361 805 307 987 1140 941 160 34 96 53 300 799 3 2
Below cutoff 13 1 1 13 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_023010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA657616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY013251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF223724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI549935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN412717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA949746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EG328250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ793952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN447415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z55204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z59665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276201   ⟹   ENSP00000276201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,834,022 - 119,852,963 (-)Ensembl
RefSeq Acc Id: ENST00000345865   ⟹   ENSP00000245418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,834,026 - 119,852,998 (-)Ensembl
RefSeq Acc Id: ENST00000478840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,838,266 - 119,845,254 (-)Ensembl
RefSeq Acc Id: ENST00000619445   ⟹   ENSP00000481698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,834,482 - 119,852,971 (-)Ensembl
RefSeq Acc Id: ENST00000636792   ⟹   ENSP00000490431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,805,311 - 119,837,932 (-)Ensembl
RefSeq Acc Id: NM_023010   ⟹   NP_075386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,834,022 - 119,852,963 (-)NCBI
GRCh37X118,941,115 - 118,986,991 (-)NCBI
Build 36X118,852,017 - 118,870,996 (-)NCBI Archive
HuRefX108,461,263 - 108,479,939 (-)ENTREZGENE
CHM1_1X118,879,087 - 118,898,087 (-)NCBI
Sequence:
RefSeq Acc Id: NM_080632   ⟹   NP_542199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,834,022 - 119,852,963 (-)NCBI
GRCh37X118,941,115 - 118,986,991 (-)NCBI
Build 36X118,852,017 - 118,870,996 (-)NCBI Archive
HuRefX108,461,263 - 108,479,939 (-)ENTREZGENE
CHM1_1X118,879,087 - 118,898,087 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029737   ⟹   XP_016885226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,815,095 - 119,853,028 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029738   ⟹   XP_016885227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,805,311 - 119,853,028 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029739   ⟹   XP_016885228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,815,095 - 119,853,028 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029740   ⟹   XP_016885229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,815,095 - 119,853,028 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_075386   ⟸   NM_023010
- Peptide Label: isoform 2
- UniProtKB: Q9BZI7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_542199   ⟸   NM_080632
- Peptide Label: isoform 1
- UniProtKB: Q9BZI7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885227   ⟸   XM_017029738
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885228   ⟸   XM_017029739
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885229   ⟸   XM_017029740
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885226   ⟸   XM_017029737
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000245418   ⟸   ENST00000345865
RefSeq Acc Id: ENSP00000490431   ⟸   ENST00000636792
RefSeq Acc Id: ENSP00000276201   ⟸   ENST00000276201
RefSeq Acc Id: ENSP00000481698   ⟸   ENST00000619445
Protein Domains
Smg4_UPF3

Promoters
RGD ID:6809372
Promoter ID:HG_KWN:67897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_023010,   OTTHUMT00000058068
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,870,756 - 118,871,256 (-)MPROMDB
RGD ID:13627964
Promoter ID:EPDNEW_H29257
Type:initiation region
Name:UPF3B_1
Description:UPF3 regulator of nonsense transcripts homolog B
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
GRCh38X119,852,963 - 119,853,023EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_080632.2(UPF3B):c.283G>A (p.Ala95Thr) single nucleotide variant not provided [RCV000520578] ChrX:119851582 [GRCh38]
ChrX:118985545 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
UPF3B, 4-BP DEL, 674GAAA deletion Mental retardation, syndromic 14, X-linked [RCV000012151]|X-linked mental retardation, syndromic 14 [RCV000012151] ChrX:Xq25-q26 pathogenic
NM_023010.3(UPF3B):c.828_829del (p.Gly277fs) deletion Mental retardation, syndromic 14, X-linked [RCV000012152] ChrX:119838506..119838507 [GRCh38]
ChrX:118972469..118972470 [GRCh37]
ChrX:Xq24
pathogenic
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000012153]|not provided [RCV000760391] ChrX:119837771 [GRCh38]
ChrX:118971734 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
NM_023010.3(UPF3B):c.478T>G (p.Tyr160Asp) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000012154] ChrX:119843293 [GRCh38]
ChrX:118977256 [GRCh37]
ChrX:Xq24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.868G>A (p.Gly290Arg) single nucleotide variant Malignant melanoma [RCV000073056] ChrX:119838506 [GRCh38]
ChrX:118972469 [GRCh37]
ChrX:118856497 [NCBI36]
ChrX:Xq24
not provided
NM_080632.2(UPF3B):c.1118G>A (p.Arg373His) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000660377] ChrX:119837941 [GRCh38]
ChrX:118971904 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.772G>C (p.Glu258Gln) single nucleotide variant not provided [RCV000087250] ChrX:119841111 [GRCh38]
ChrX:118975074 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_023010.3(UPF3B):c.670_673GAAA[1] (p.Arg225fs) microsatellite Mental retardation, syndromic 14, X-linked [RCV000012151]|not provided [RCV000494240] ChrX:119841206..119841209 [GRCh38]
ChrX:118975169..118975172 [GRCh37]
ChrX:Xq24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24(chrX:119800216-119839410)x2 copy number gain See cases [RCV000141720] ChrX:119800216..119839410 [GRCh38]
ChrX:118934179..118973373 [GRCh37]
ChrX:118818207..118857401 [NCBI36]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) single nucleotide variant History of neurodevelopmental disorder [RCV000717712]|Mental retardation, syndromic 14, X-linked [RCV000544499]|not specified [RCV000192954] ChrX:119837938 [GRCh38]
ChrX:118971901 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_080632.2(UPF3B):c.962T>C (p.Leu321Ser) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000872743]|not specified [RCV000194994] ChrX:119838412 [GRCh38]
ChrX:118972375 [GRCh37]
ChrX:Xq24
benign|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.263+3_263+14dup duplication not specified [RCV000193981] ChrX:119851748..119851749 [GRCh38]
ChrX:118985711..118985712 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.352G>A (p.Val118Ile) single nucleotide variant Inborn genetic diseases [RCV000622263]|not specified [RCV000610273] ChrX:119851513 [GRCh38]
ChrX:118985476 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.(?_118986730)_(119603030_?)dup duplication Danon disease [RCV000258048] ChrX:118986730..119603030 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.1189A>G (p.Lys397Glu) single nucleotide variant not provided [RCV000519345] ChrX:119837870 [GRCh38]
ChrX:118971833 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.*206A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000304763] ChrX:119834672 [GRCh38]
ChrX:118968635 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.*395G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000393568] ChrX:119834483 [GRCh38]
ChrX:118968446 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.-67T>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000311597] ChrX:119852995 [GRCh38]
ChrX:118986958 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.-13G>C single nucleotide variant not specified [RCV000428292] ChrX:119852941 [GRCh38]
ChrX:118986904 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_080632.2(UPF3B):c.1007+4A>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000365005] ChrX:119838363 [GRCh38]
ChrX:118972326 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.-100G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000368954] ChrX:119853028 [GRCh38]
ChrX:118986991 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.*618G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000280734] ChrX:119834260 [GRCh38]
ChrX:118968223 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.*650A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000372763] ChrX:119834228 [GRCh38]
ChrX:118968191 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.*725G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000334428] ChrX:119834153 [GRCh38]
ChrX:118968116 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.*772G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000387731] ChrX:119834106 [GRCh38]
ChrX:118968069 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.*439A>G single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000338062] ChrX:119834439 [GRCh38]
ChrX:118968402 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.*40G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000393574] ChrX:119834838 [GRCh38]
ChrX:118968801 [GRCh37]
ChrX:Xq24
likely benign
NM_023010.3(UPF3B):c.52A>C (p.Thr18Pro) single nucleotide variant not provided [RCV000395795] ChrX:119852877 [GRCh38]
ChrX:118986840 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.*741G>A single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000295773] ChrX:119834137 [GRCh38]
ChrX:118968100 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.*49C>T single nucleotide variant Non-syndromic X-linked intellectual disability [RCV000343122] ChrX:119834829 [GRCh38]
ChrX:118968792 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr) single nucleotide variant Cataract (disease) [RCV000626987]|not provided [RCV000585524] ChrX:119841125 [GRCh38]
ChrX:118975088 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_080632.2(UPF3B):c.883T>C (p.Leu295=) single nucleotide variant not specified [RCV000439696] ChrX:119838491 [GRCh38]
ChrX:118972454 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_023010.3(UPF3B):c.693_694AG[2] (p.Arg233fs) microsatellite Mental retardation, syndromic 14, X-linked [RCV000678370]|not provided [RCV000483091] ChrX:119841185..119841186 [GRCh38]
ChrX:118975148..118975149 [GRCh37]
ChrX:Xq24
pathogenic
NM_080632.2(UPF3B):c.1006A>G (p.Arg336Gly) single nucleotide variant not provided [RCV000481581] ChrX:119838368 [GRCh38]
ChrX:118972331 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.1286A>G (p.Asp429Gly) single nucleotide variant not provided [RCV000478703] ChrX:119837773 [GRCh38]
ChrX:118971736 [GRCh37]
ChrX:Xq24
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.2(UPF3B):c.1073G>A (p.Arg358His) single nucleotide variant History of neurodevelopmental disorder [RCV000719660]|not provided [RCV000862313]|not specified [RCV000502584] ChrX:119837986 [GRCh38]
ChrX:118971949 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_080632.2(UPF3B):c.121G>A (p.Asp41Asn) single nucleotide variant not specified [RCV000500328] ChrX:119852808 [GRCh38]
ChrX:118986771 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_023010.3(UPF3B):c.690_697del (p.Arg233fs) deletion not provided [RCV000494485] ChrX:119841186..119841193 [GRCh38]
ChrX:118975149..118975156 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_023010.3(UPF3B):c.1312del (p.Arg438fs) deletion Mental retardation, syndromic 14, X-linked [RCV000578335] ChrX:119834979 [GRCh38]
ChrX:118968942 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_080632.2(UPF3B):c.1104G>A (p.Arg368=) single nucleotide variant not specified [RCV000615211] ChrX:119837955 [GRCh38]
ChrX:118971918 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_080632.2(UPF3B):c.764G>A (p.Arg255Lys) single nucleotide variant History of neurodevelopmental disorder [RCV000718781]|not provided [RCV000645532] ChrX:119841119 [GRCh38]
ChrX:118975082 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_023010.3(UPF3B):c.1236G>C (p.Val412=) single nucleotide variant not provided [RCV000513665] ChrX:119837784 [GRCh38]
ChrX:118971747 [GRCh37]
ChrX:Xq24
uncertain significance
NM_023010.3(UPF3B):c.26C>G (p.Pro9Arg) single nucleotide variant not provided [RCV000659178] ChrX:119852903 [GRCh38]
ChrX:118986866 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24(chrX:118749182-119039684)x3 copy number gain not provided [RCV000684379] ChrX:118749182..119039684 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.2(UPF3B):c.1202G>A (p.Arg401Gln) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000705930] ChrX:119837857 [GRCh38]
ChrX:118971820 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_023010.3(UPF3B):c.263+3_263+18dup duplication History of neurodevelopmental disorder [RCV000718727] ChrX:119851748..119851749 [GRCh38]
ChrX:118985711..118985712 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_080632.2(UPF3B):c.1260A>C (p.Glu420Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000718435] ChrX:119837799 [GRCh38]
ChrX:118971762 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq24(chrX:118053103-119334499)x2 copy number gain not provided [RCV000753733] ChrX:118053103..119334499 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118967114-119128106)x3 copy number gain not provided [RCV000753738] ChrX:118967114..119128106 [GRCh37]
ChrX:Xq24
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) single nucleotide variant not provided [RCV000862890] ChrX:119852899 [GRCh38]
ChrX:118986862 [GRCh37]
ChrX:Xq24
benign
NM_023010.3(UPF3B):c.2_3insA (p.Met1fs) insertion not provided [RCV000762664] ChrX:119852926..119852927 [GRCh38]
ChrX:118986889..118986890 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_080632.3(UPF3B):c.1030G>A (p.Asp344Asn) single nucleotide variant not provided [RCV000996008] ChrX:119838029 [GRCh38]
ChrX:118971992 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.3(UPF3B):c.1092G>A (p.Glu364=) single nucleotide variant not provided [RCV000919763] ChrX:119837967 [GRCh38]
ChrX:118971930 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) single nucleotide variant not provided [RCV000865818] ChrX:119852876 [GRCh38]
ChrX:118986839 [GRCh37]
ChrX:Xq24
benign
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000864520] ChrX:119837799 [GRCh38]
ChrX:118971762 [GRCh37]
ChrX:Xq24
benign
NM_080632.3(UPF3B):c.655A>C (p.Arg219=) single nucleotide variant not provided [RCV000875910] ChrX:119841228 [GRCh38]
ChrX:118975191 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.264-34G>A single nucleotide variant not provided [RCV000829628] ChrX:119851635 [GRCh38]
ChrX:118985598 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.370+63C>T single nucleotide variant not provided [RCV000835091] ChrX:119851432 [GRCh38]
ChrX:118985395 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.470-68T>C single nucleotide variant not provided [RCV000833053] ChrX:119843369 [GRCh38]
ChrX:118977332 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV000990933] ChrX:119837958 [GRCh38]
ChrX:118971921 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.2(UPF3B):c.1303-85T>G single nucleotide variant not provided [RCV000829998] ChrX:119835112 [GRCh38]
ChrX:118969075 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.846+102T>G single nucleotide variant not provided [RCV000833054] ChrX:119840544 [GRCh38]
ChrX:118974507 [GRCh37]
ChrX:Xq24
benign
NC_000023.11:g.119853214T>C single nucleotide variant not provided [RCV000844236] ChrX:119853214 [GRCh38]
ChrX:118987177 [GRCh37]
ChrX:Xq24
benign
NM_080632.2(UPF3B):c.847-292T>C single nucleotide variant not provided [RCV000844241] ChrX:119838819 [GRCh38]
ChrX:118972782 [GRCh37]
ChrX:Xq24
benign
NM_080632.3(UPF3B):c.33G>A (p.Glu11=) single nucleotide variant not provided [RCV000874465] ChrX:119852896 [GRCh38]
ChrX:118986859 [GRCh37]
ChrX:Xq24
likely benign
NC_000023.11:g.119853088G>A single nucleotide variant not provided [RCV000829997] ChrX:119853088 [GRCh38]
ChrX:118987051 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_080632.3(UPF3B):c.711_713AGA[2] (p.Glu240del) microsatellite Mental retardation, syndromic 14, X-linked [RCV001174536] ChrX:119841164..119841166 [GRCh38]
ChrX:118975127..118975129 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) deletion Mental retardation, syndromic 14, X-linked [RCV000995676] ChrX:119843193..119843196 [GRCh38]
ChrX:118977156..118977159 [GRCh37]
ChrX:Xq24
pathogenic
NM_080632.3(UPF3B):c.1147_1148GA[1] (p.Lys384fs) microsatellite not provided [RCV001091706] ChrX:119837909..119837910 [GRCh38]
ChrX:118971872..118971873 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) single nucleotide variant not provided [RCV000869299] ChrX:119837987 [GRCh38]
ChrX:118971950 [GRCh37]
ChrX:Xq24
benign
NM_080632.3(UPF3B):c.75C>T (p.Ser25=) single nucleotide variant not provided [RCV000930637] ChrX:119852854 [GRCh38]
ChrX:118986817 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=) single nucleotide variant not provided [RCV001091707] ChrX:119838024 [GRCh38]
ChrX:118971987 [GRCh37]
ChrX:Xq24
likely benign
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter) single nucleotide variant Intellectual disability [RCV001260817] ChrX:119837999 [GRCh38]
ChrX:118971962 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV001331270] ChrX:119841120 [GRCh38]
ChrX:118975083 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) single nucleotide variant Inborn genetic diseases [RCV001266967] ChrX:119841216 [GRCh38]
ChrX:118975179 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp) single nucleotide variant Intellectual disability [RCV001260815] ChrX:119841211 [GRCh38]
ChrX:118975174 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.3(UPF3B):c.263+2T>A single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV001294051] ChrX:119851765 [GRCh38]
ChrX:118985728 [GRCh37]
ChrX:Xq24
pathogenic
NM_080632.3(UPF3B):c.1421T>A (p.Ile474Asn) single nucleotide variant Inborn genetic diseases [RCV001267575] ChrX:119834909 [GRCh38]
ChrX:118968872 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118913756-119311583)x2 copy number gain not provided [RCV001259494] ChrX:118913756..119311583 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.3(UPF3B):c.846+1G>A single nucleotide variant Inborn genetic diseases [RCV001266217] ChrX:119840645 [GRCh38]
ChrX:118974608 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter) single nucleotide variant not provided [RCV001280709] ChrX:119837885 [GRCh38]
ChrX:118971848 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs) microsatellite Mental retardation, syndromic 14, X-linked [RCV001270413] ChrX:119841236..119841237 [GRCh38]
ChrX:118975199..118975200 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) single nucleotide variant Mental retardation, syndromic 14, X-linked [RCV001344846] ChrX:119837957 [GRCh38]
ChrX:118971920 [GRCh37]
ChrX:Xq24
uncertain significance
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) single nucleotide variant not provided [RCV001311100] ChrX:119851588 [GRCh38]
ChrX:118985551 [GRCh37]
ChrX:Xq24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20439 AgrOrtholog
COSMIC UPF3B COSMIC
Ensembl Genes ENSG00000125351 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000245418 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000276201 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481698 UniProtKB/TrEMBL
  ENSP00000490431 UniProtKB/TrEMBL
Ensembl Transcript ENST00000276201 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000345865 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000619445 UniProtKB/TrEMBL
  ENST00000636792 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125351 GTEx
HGNC ID HGNC:20439 ENTREZGENE
Human Proteome Map UPF3B Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Upf3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPF3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPF3B_RRM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65109 UniProtKB/Swiss-Prot
NCBI Gene 65109 ENTREZGENE
OMIM 300298 OMIM
  300518 OMIM
  300676 OMIM
PANTHER PTHR13112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Smg4_UPF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394708 PharmGKB
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYC8_HUMAN UniProtKB/TrEMBL
  A0A1B0GVA2_HUMAN UniProtKB/TrEMBL
  A0A6H0C8C5_HUMAN UniProtKB/TrEMBL
  I3XIE4_HUMAN UniProtKB/TrEMBL
  Q0VAK7_HUMAN UniProtKB/TrEMBL
  Q9BZI7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DWI3 UniProtKB/Swiss-Prot
  D3DWI4 UniProtKB/Swiss-Prot
  Q0VAK8 UniProtKB/Swiss-Prot
  Q9H1J0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 UPF3B  UPF3B regulator of nonsense mediated mRNA decay  UPF3B  UPF3B, regulator of nonsense mediated mRNA decay  Symbol and/or name change 5135510 APPROVED
2017-05-23 UPF3B  UPF3B, regulator of nonsense mediated mRNA decay  UPF3B  UPF3 regulator of nonsense transcripts homolog B  Symbol and/or name change 5135510 APPROVED
2017-05-16 UPF3B  UPF3 regulator of nonsense transcripts homolog B  UPF3B  UPF3 regulator of nonsense transcripts homolog B (yeast)  Symbol and/or name change 5135510 APPROVED
2016-04-04 UPF3B  UPF3 regulator of nonsense transcripts homolog B (yeast)  MRX62  mental retardation, X-linked 62  Data Merged 737654 PROVISIONAL