PUF60 (poly(U) binding splicing factor 60) - Rat Genome Database

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Gene: PUF60 (poly(U) binding splicing factor 60) Homo sapiens
Analyze
Symbol: PUF60
Name: poly(U) binding splicing factor 60
RGD ID: 731253
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in alternative mRNA splicing, via spliceosome; mRNA splice site selection; and regulation of alternative mRNA splicing, via spliceosome. Localizes to cell junction and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 60 kDa poly(U)-binding-splicing factor; FBP interacting repressor; FBP-interacting repressor; FIR; FLJ31379; FUSE-binding protein-interacting repressor; poly(U) binding splicing factor 60KDa; poly(U)-binding-splicing factor PUF60; poly-U binding splicing factor 60KDa; poly-U binding splicing factor PUF60; pyrimidine tract binding splicing factor; Ro ribonucleoprotein binding protein 1; Ro ribonucleoprotein-binding protein 1; ro-binding protein 1; roBP1; RoBPI; Siah binding protein 1; siah-binding protein 1; siah-BP1; SIAHBP1; VRJS
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
GRCh38.p13 Ensembl8143,816,344 - 143,829,352 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,816,344 - 143,829,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,898,514 - 144,911,485 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,970,535 - 144,983,525 (-)NCBINCBI36hg18NCBI36
Build 348144,970,535 - 144,983,525NCBI
Celera8141,211,452 - 141,224,560 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBIHuRef
CHM1_18144,938,756 - 144,951,801 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell junction  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)

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)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cricoid cartilage morphology  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormality of the optic disc  (IAGP)
Agenesis of corpus callosum  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Amblyopia  (IAGP)
Aortic regurgitation  (IAGP)
Aplasia/Hypoplasia of the ribs  (IAGP)
Asymmetry of the ears  (IAGP)
Atrioventricular canal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral microphthalmos  (IAGP)
Bilateral renal hypoplasia  (IAGP)
Branchial cyst  (IAGP)
Broad hallux  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Capillary hemangioma  (IAGP)
Cerebellopontine angle arachnoid cyst  (IAGP)
Cerebral atrophy  (IAGP)
Cervical hemivertebrae  (IAGP)
Cervical ribs  (IAGP)
Cleft maxillary alveolus  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coloboma  (IAGP)
Complete atrioventricular canal defect  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Deeply set eye  (IAGP)
Dysphagia  (IAGP)
Dysplastic aortic valve  (IAGP)
Echolalia  (IAGP)
Ectopic posterior pituitary  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Exotropia  (IAGP)
Expressive language delay  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties  (IAGP)
Full cheeks  (IAGP)
Fused cervical vertebrae  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint laxity  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemifacial hypoplasia  (IAGP)
Hemivertebrae  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Horseshoe kidney  (IAGP)
Hyperactivity  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypermobility of interphalangeal joints  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic aortic arch  (IAGP)
Hypospadias  (IAGP)
Infancy onset short-trunk short stature  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris coloboma  (IAGP)
Joint laxity  (IAGP)
Long eyelashes  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Long toe  (IAGP)
Low frustration tolerance  (IAGP)
Mandibular prognathia  (IAGP)
Mesiodens  (IAGP)
Microcephaly  (IAGP)
Micromelia  (IAGP)
Microphthalmia  (IAGP)
Microretrognathia  (IAGP)
Myopia  (IAGP)
Naevus flammeus of the eyelid  (IAGP)
Narrow chest  (IAGP)
Narrow forehead  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nevus flammeus  (IAGP)
Oligohydramnios  (IAGP)
Optic nerve hypoplasia  (IAGP)
Oval face  (IAGP)
Overlapping toe  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Periventricular leukomalacia  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Poor eye contact  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial hand polydactyly  (IAGP)
Prominent forehead  (IAGP)
Reduced visual acuity  (IAGP)
Renal agenesis  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory distress  (IAGP)
Retinal coloboma  (IAGP)
Rocker bottom foot  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Septo-optic dysplasia  (IAGP)
Short 5th finger  (IAGP)
Short femur  (IAGP)
Short hallux  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Shoulder subluxation  (IAGP)
Single transverse palmar crease  (IAGP)
Skin tags  (IAGP)
Sleep disturbance  (IAGP)
Small for gestational age  (IAGP)
Smooth philtrum  (IAGP)
Spina bifida  (IAGP)
Spina bifida occulta  (IAGP)
Square face  (IAGP)
Stereotypy  (IAGP)
Talipes  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracic hemivertebrae  (IAGP)
Thoracic kyphosis  (IAGP)
Thoracic scoliosis  (IAGP)
Tics  (IAGP)
Truncus arteriosus  (IAGP)
Unilateral ptosis  (IAGP)
Unilateral renal agenesis  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral fusion  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:10524322   PMID:10606266   PMID:10668799   PMID:10866799   PMID:10882074   PMID:11239393   PMID:11445587   PMID:12234937   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15324660  
PMID:16159877   PMID:16169070   PMID:16189514   PMID:16452196   PMID:16628215   PMID:16713569   PMID:17332742   PMID:17353931   PMID:17579712   PMID:17643375   PMID:18029348   PMID:18056422  
PMID:18193062   PMID:18255255   PMID:18258596   PMID:18974054   PMID:19273283   PMID:19738201   PMID:20420426   PMID:20467437   PMID:20508642   PMID:21078624   PMID:21145461   PMID:21319273  
PMID:21516116   PMID:21873635   PMID:21988832   PMID:22079093   PMID:22157746   PMID:22365833   PMID:22446626   PMID:22496461   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22863883  
PMID:22939629   PMID:22990118   PMID:23113893   PMID:23178491   PMID:23208506   PMID:23443559   PMID:23594796   PMID:23752268   PMID:23974796   PMID:24140112   PMID:24457600   PMID:24591637  
PMID:24711643   PMID:24811221   PMID:24824848   PMID:25315684   PMID:25416956   PMID:25437307   PMID:25468996   PMID:25609649   PMID:25671302   PMID:25921289   PMID:25963833   PMID:26177862  
PMID:26344197   PMID:26354767   PMID:26472760   PMID:26496610   PMID:26497854   PMID:26871637   PMID:26990986   PMID:27049334   PMID:27107014   PMID:27114453   PMID:27342126   PMID:27503909  
PMID:27684187   PMID:27756887   PMID:27804958   PMID:28031328   PMID:28074499   PMID:28192407   PMID:28302793   PMID:28327570   PMID:28431233   PMID:28471317   PMID:28514442   PMID:28515276  
PMID:28561026   PMID:28581483   PMID:28902428   PMID:28977666   PMID:28990276   PMID:28993636   PMID:29229926   PMID:29507755   PMID:29511261   PMID:29541951   PMID:29788428   PMID:29802200  
PMID:29845934   PMID:29997244   PMID:30110629   PMID:30209976   PMID:30463901   PMID:30575818   PMID:30619335   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31046837   PMID:31091453  
PMID:31365120   PMID:31519766   PMID:31536960   PMID:31586073   PMID:32129710   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32457219   PMID:32814053   PMID:33253191  


Genomics

Comparative Map Data
PUF60
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,816,344 - 143,829,352 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,816,344 - 143,829,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,898,514 - 144,911,485 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,970,535 - 144,983,525 (-)NCBINCBI36hg18NCBI36
Build 348144,970,535 - 144,983,525NCBI
Celera8141,211,452 - 141,224,560 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBIHuRef
CHM1_18144,938,756 - 144,951,801 (-)NCBICHM1_1
Puf60
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,942,031 - 75,954,386 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,942,031 - 75,952,773 (-)Ensembl
GRCm381576,070,182 - 76,082,537 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,070,182 - 76,080,924 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,900,612 - 75,911,376 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,897,439 - 75,908,167 (-)NCBImm8
Celera1577,571,109 - 77,581,873 (-)NCBICelera
Cytogenetic Map15D3NCBI
Puf60
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,782,770 - 107,793,814 (-)NCBI
Rnor_6.0 Ensembl7117,129,237 - 117,140,214 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,129,237 - 117,140,234 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,114,908 - 117,125,972 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,101,160 - 114,112,091 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,135,433 - 114,146,350 (-)NCBI
Celera7104,139,368 - 104,150,299 (-)NCBICelera
Cytogenetic Map7q34NCBI
Puf60
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,482,968 - 2,497,339 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,482,968 - 2,497,339 (-)NCBIChiLan1.0ChiLan1.0
PUF60
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,583,451 - 143,597,351 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,583,451 - 143,597,399 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,571,688 - 140,584,778 (-)NCBIMhudiblu_PPA_v0panPan3
PUF60
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,375,781 - 37,387,969 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,375,651 - 37,387,875 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,332,030 - 37,344,218 (-)NCBI
ROS_Cfam_1.01337,847,479 - 37,859,669 (-)NCBI
UMICH_Zoey_3.11337,521,566 - 37,533,753 (-)NCBI
UNSW_CanFamBas_1.01337,638,507 - 37,650,690 (-)NCBI
UU_Cfam_GSD_1.01338,119,856 - 38,132,044 (-)NCBI
Puf60
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303909,405 - 922,238 (+)NCBI
SpeTri2.0NW_0049364708,336,852 - 8,348,335 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PUF60
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4812,130 - 824,319 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14812,137 - 824,321 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PUF60
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,034,526 - 138,047,485 (-)NCBI
ChlSab1.1 Ensembl8138,034,395 - 138,042,468 (-)Ensembl
Puf60
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,983,106 - 12,996,578 (+)NCBI

Position Markers
WI-19511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,898,642 - 144,898,892UniSTSGRCh37
Build 368144,970,630 - 144,970,880RGDNCBI36
Celera8141,211,547 - 141,211,797RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,151,602 - 140,151,852UniSTS
GeneMap99-GB4 RH Map8563.83UniSTS
Whitehead-RH Map8717.7UniSTS
RH70666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,898,558 - 144,898,701UniSTSGRCh37
Build 368144,970,546 - 144,970,689RGDNCBI36
Celera8141,211,463 - 141,211,606RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,151,518 - 140,151,661UniSTS
GeneMap99-GB4 RH Map8563.83UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7629
Count of miRNA genes:1025
Interacting mature miRNAs:1315
Transcripts:ENST00000313352, ENST00000349157, ENST00000453551, ENST00000456095, ENST00000524570, ENST00000526151, ENST00000526459, ENST00000526683, ENST00000527197, ENST00000527584, ENST00000527744, ENST00000528320, ENST00000528999, ENST00000529693, ENST00000529999, ENST00000531897, ENST00000531951, ENST00000531995, ENST00000532127, ENST00000532884, ENST00000533162, ENST00000533362
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 12
Medium 2438 2840 1722 621 1882 462 4357 2119 3713 414 1447 1613 175 1 1204 2788 6 2
Low 1 151 4 3 69 3 78 21 5 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_078480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC234917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF190744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL522753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW249619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG771821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ421738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX418925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN371576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT000277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX163878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U51586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313352   ⟹   ENSP00000322016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,377 - 143,829,039 (-)Ensembl
RefSeq Acc Id: ENST00000349157   ⟹   ENSP00000322036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,377 - 143,829,352 (-)Ensembl
RefSeq Acc Id: ENST00000453551   ⟹   ENSP00000402953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,377 - 143,829,026 (-)Ensembl
RefSeq Acc Id: ENST00000456095   ⟹   ENSP00000395417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,377 - 143,829,303 (-)Ensembl
RefSeq Acc Id: ENST00000524570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,042 - 143,823,282 (-)Ensembl
RefSeq Acc Id: ENST00000526151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,821,349 - 143,829,315 (-)Ensembl
RefSeq Acc Id: ENST00000526459   ⟹   ENSP00000432610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,578 - 143,829,338 (-)Ensembl
RefSeq Acc Id: ENST00000526683   ⟹   ENSP00000434359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,344 - 143,829,315 (-)Ensembl
RefSeq Acc Id: ENST00000527197   ⟹   ENSP00000431960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,816,520 - 143,829,320 (-)Ensembl
RefSeq Acc Id: ENST00000527584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,818,373 - 143,824,460 (-)Ensembl
RefSeq Acc Id: ENST00000527744   ⟹   ENSP00000436131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,586 - 143,829,299 (-)Ensembl
RefSeq Acc Id: ENST00000528320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,886 - 143,824,399 (-)Ensembl
RefSeq Acc Id: ENST00000528999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,979 - 143,819,037 (-)Ensembl
RefSeq Acc Id: ENST00000529693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,818,193 - 143,818,963 (-)Ensembl
RefSeq Acc Id: ENST00000529999   ⟹   ENSP00000434863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,950 - 143,829,044 (-)Ensembl
RefSeq Acc Id: ENST00000531897   ⟹   ENSP00000437309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,996 - 143,829,304 (-)Ensembl
RefSeq Acc Id: ENST00000531951
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,866 - 143,829,028 (-)Ensembl
RefSeq Acc Id: ENST00000531995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,820,233 - 143,821,743 (-)Ensembl
RefSeq Acc Id: ENST00000532127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,820,426 - 143,829,319 (-)Ensembl
RefSeq Acc Id: ENST00000532884   ⟹   ENSP00000432091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,817,080 - 143,818,476 (-)Ensembl
RefSeq Acc Id: ENST00000533162   ⟹   ENSP00000433403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,818,222 - 143,829,338 (-)Ensembl
RefSeq Acc Id: ENST00000533362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,821,597 - 143,825,140 (-)Ensembl
RefSeq Acc Id: NM_001136033   ⟹   NP_001129505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,041 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271096   ⟹   NP_001258025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271097   ⟹   NP_001258026
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271098   ⟹   NP_001258027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271099   ⟹   NP_001258028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001271100   ⟹   NP_001258029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,041 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362895   ⟹   NP_001349824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,041 (-)NCBI
RefSeq Acc Id: NM_001362896   ⟹   NP_001349825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,041 (-)NCBI
RefSeq Acc Id: NM_001362897   ⟹   NP_001349826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,041 (-)NCBI
RefSeq Acc Id: NM_014281   ⟹   NP_055096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
Build 368144,970,535 - 144,983,525 (-)NCBI Archive
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: NM_078480   ⟹   NP_510965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,344 - 143,829,315 (-)NCBI
GRCh378144,898,514 - 144,911,556 (-)NCBI
Build 368144,970,535 - 144,983,525 (-)NCBI Archive
HuRef8140,151,474 - 140,164,519 (-)NCBI
CHM1_18144,938,756 - 144,951,801 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013234   ⟹   XP_016868723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,377 - 143,829,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013235   ⟹   XP_016868724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,377 - 143,825,006 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013236   ⟹   XP_016868725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,377 - 143,829,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013239   ⟹   XP_016868728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,377 - 143,827,162 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013240   ⟹   XP_016868729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,816,377 - 143,827,162 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258025 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258026 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258027 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258028 (Get FASTA)   NCBI Sequence Viewer  
  NP_001258029 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349826 (Get FASTA)   NCBI Sequence Viewer  
  NP_055096 (Get FASTA)   NCBI Sequence Viewer  
  NP_510965 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868723 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868724 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868725 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868728 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868729 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB41656 (Get FASTA)   NCBI Sequence Viewer  
  AAF05605 (Get FASTA)   NCBI Sequence Viewer  
  AAF23589 (Get FASTA)   NCBI Sequence Viewer  
  AAF27522 (Get FASTA)   NCBI Sequence Viewer  
  AAH08875 (Get FASTA)   NCBI Sequence Viewer  
  AAH09734 (Get FASTA)   NCBI Sequence Viewer  
  AAH11265 (Get FASTA)   NCBI Sequence Viewer  
  AAH11979 (Get FASTA)   NCBI Sequence Viewer  
  BAF85062 (Get FASTA)   NCBI Sequence Viewer  
  CAG33424 (Get FASTA)   NCBI Sequence Viewer  
  EAW82184 (Get FASTA)   NCBI Sequence Viewer  
  EAW82185 (Get FASTA)   NCBI Sequence Viewer  
  EAW82186 (Get FASTA)   NCBI Sequence Viewer  
  EAW82187 (Get FASTA)   NCBI Sequence Viewer  
  EAW82188 (Get FASTA)   NCBI Sequence Viewer  
  EAW82189 (Get FASTA)   NCBI Sequence Viewer  
  EAW82190 (Get FASTA)   NCBI Sequence Viewer  
  EAW82191 (Get FASTA)   NCBI Sequence Viewer  
  EAW82192 (Get FASTA)   NCBI Sequence Viewer  
  EAW82193 (Get FASTA)   NCBI Sequence Viewer  
  EAW82194 (Get FASTA)   NCBI Sequence Viewer  
  EAW82195 (Get FASTA)   NCBI Sequence Viewer  
  Q9UHX1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_055096   ⟸   NM_014281
- Peptide Label: isoform b
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_510965   ⟸   NM_078480
- Peptide Label: isoform a
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129505   ⟸   NM_001136033
- Peptide Label: isoform c
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258026   ⟸   NM_001271097
- Peptide Label: isoform e
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258028   ⟸   NM_001271099
- Peptide Label: isoform g
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258025   ⟸   NM_001271096
- Peptide Label: isoform d
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258027   ⟸   NM_001271098
- Peptide Label: isoform f
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258029   ⟸   NM_001271100
- Peptide Label: isoform h
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868725   ⟸   XM_017013236
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016868723   ⟸   XM_017013234
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016868729   ⟸   XM_017013240
- Peptide Label: isoform X14
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868728   ⟸   XM_017013239
- Peptide Label: isoform X13
- UniProtKB: Q9UHX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868724   ⟸   XM_017013235
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001349826   ⟸   NM_001362897
- Peptide Label: isoform j
RefSeq Acc Id: NP_001349824   ⟸   NM_001362895
- Peptide Label: isoform i
RefSeq Acc Id: NP_001349825   ⟸   NM_001362896
- Peptide Label: isoform i
RefSeq Acc Id: ENSP00000437309   ⟸   ENST00000531897
RefSeq Acc Id: ENSP00000322036   ⟸   ENST00000349157
RefSeq Acc Id: ENSP00000402953   ⟸   ENST00000453551
RefSeq Acc Id: ENSP00000432091   ⟸   ENST00000532884
RefSeq Acc Id: ENSP00000433403   ⟸   ENST00000533162
RefSeq Acc Id: ENSP00000395417   ⟸   ENST00000456095
RefSeq Acc Id: ENSP00000322016   ⟸   ENST00000313352
RefSeq Acc Id: ENSP00000434359   ⟸   ENST00000526683
RefSeq Acc Id: ENSP00000432610   ⟸   ENST00000526459
RefSeq Acc Id: ENSP00000431960   ⟸   ENST00000527197
RefSeq Acc Id: ENSP00000436131   ⟸   ENST00000527744
RefSeq Acc Id: ENSP00000434863   ⟸   ENST00000529999
Protein Domains
RRM

Promoters
RGD ID:7214387
Promoter ID:EPDNEW_H12940
Type:initiation region
Name:PUF60_2
Description:poly binding splicing factor 60
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12941  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,829,041 - 143,829,101EPDNEW
RGD ID:7214389
Promoter ID:EPDNEW_H12941
Type:initiation region
Name:PUF60_1
Description:poly binding splicing factor 60
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12940  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,829,315 - 143,829,375EPDNEW
RGD ID:6806977
Promoter ID:HG_KWN:62287
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003YZU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,976,891 - 144,978,017 (-)MPROMDB
RGD ID:6806973
Promoter ID:HG_KWN:62288
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_014281,   NM_078480,   UC003YZQ.1,   UC003YZR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,983,121 - 144,983,772 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_078480.3(PUF60):c.1328C>A (p.Ser443Ter) single nucleotide variant not provided [RCV000722251] Chr8:143816962 [GRCh38]
Chr8:144899132 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) single nucleotide variant Verheij syndrome [RCV000077784] Chr8:143818378 [GRCh38]
Chr8:144900548 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) single nucleotide variant Verheij syndrome [RCV001332785] Chr8:143816998 [GRCh38]
Chr8:144899168 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_078480.3(PUF60):c.389G>A (p.Arg130His) single nucleotide variant CHARGE association [RCV001034553]|Verheij syndrome [RCV000578200] Chr8:143818494 [GRCh38]
Chr8:144900664 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_078480.3(PUF60):c.496del (p.Thr166fs) deletion Inborn genetic diseases [RCV000622481] Chr8:143818387 [GRCh38]
Chr8:144900557 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs) indel Verheij syndrome [RCV000622629] Chr8:143817402..143817403 [GRCh38]
Chr8:144899572..144899573 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.485G>A (p.Trp162Ter) single nucleotide variant not provided [RCV000291225] Chr8:143818398 [GRCh38]
Chr8:144900568 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1264_1266GAG[1] (p.Glu423del) microsatellite not provided [RCV000722945] Chr8:143817021..143817023 [GRCh38]
Chr8:144899191..144899193 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) single nucleotide variant Inborn genetic diseases [RCV000622780]|Verheij syndrome [RCV000735802]|not provided [RCV000488436] Chr8:143818255 [GRCh38]
Chr8:144900425 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|uncertain significance
NM_078480.3(PUF60):c.1008+1G>A single nucleotide variant not provided [RCV000488437] Chr8:143817591 [GRCh38]
Chr8:144899761 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.604-2A>G single nucleotide variant not provided [RCV000488440] Chr8:143818077 [GRCh38]
Chr8:144900247 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) deletion Verheij syndrome [RCV001253445]|not provided [RCV000488442] Chr8:143818042..143818060 [GRCh38]
Chr8:144900212..144900230 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_078480.3(PUF60):c.1577_1587del (p.His526fs) deletion not provided [RCV000488444] Chr8:143816613..143816623 [GRCh38]
Chr8:144898783..144898793 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.604-2A>C single nucleotide variant not provided [RCV000488445] Chr8:143818077 [GRCh38]
Chr8:144900247 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1472G>A (p.Gly491Glu) single nucleotide variant not provided [RCV000488446] Chr8:143816728 [GRCh38]
Chr8:144898898 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.475G>A (p.Asp159Asn) single nucleotide variant not provided [RCV000488448] Chr8:143818408 [GRCh38]
Chr8:144900578 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1094dup (p.Thr366fs) duplication not provided [RCV000488450] Chr8:143817380..143817381 [GRCh38]
Chr8:144899550..144899551 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.931_932insAAAA (p.Thr311fs) insertion not provided [RCV000488451] Chr8:143817668..143817669 [GRCh38]
Chr8:144899838..144899839 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.376del (p.Ala126fs) deletion Inborn genetic diseases [RCV000623547] Chr8:143818507 [GRCh38]
Chr8:144900677 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) single nucleotide variant Verheij syndrome [RCV000656527] Chr8:143816981 [GRCh38]
Chr8:144899151 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.24+3_24+6del deletion not provided [RCV000733785] Chr8:143829274..143829277 [GRCh38]
Chr8:144911444..144911447 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.1381-2A>G single nucleotide variant Verheij syndrome [RCV000415139]|not provided [RCV000488439] Chr8:143816821 [GRCh38]
Chr8:144898991 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_078480.3(PUF60):c.24+1G>C single nucleotide variant Verheij syndrome [RCV000735797] Chr8:143829279 [GRCh38]
Chr8:144911449 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_078480.3(PUF60):c.403_406TCTA[1] (p.Ile136fs) microsatellite Verheij syndrome [RCV000735798] Chr8:143818473..143818476 [GRCh38]
Chr8:144900643..144900646 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) single nucleotide variant Verheij syndrome [RCV000735799] Chr8:143816948 [GRCh38]
Chr8:144899118 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) single nucleotide variant Verheij syndrome [RCV000735800] Chr8:143817699 [GRCh38]
Chr8:144899869 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) single nucleotide variant Verheij syndrome [RCV000735801] Chr8:143816752 [GRCh38]
Chr8:144898922 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.590dup (p.Arg198fs) duplication not provided [RCV000413181] Chr8:143818205..143818206 [GRCh38]
Chr8:144900375..144900376 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1183_1187del (p.Pro395fs) deletion not provided [RCV000413995] Chr8:143817103..143817107 [GRCh38]
Chr8:144899273..144899277 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_078480.3(PUF60):c.24+1G>A single nucleotide variant not provided [RCV000478219] Chr8:143829279 [GRCh38]
Chr8:144911449 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1489_1491ATC[1] (p.Ile498del) microsatellite Inborn genetic diseases [RCV001267378]|not provided [RCV000478633] Chr8:143816706..143816708 [GRCh38]
Chr8:144898876..144898878 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_078480.3(PUF60):c.993del (p.Lys332fs) deletion not provided [RCV000494251] Chr8:143817607 [GRCh38]
Chr8:144899777 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) deletion Inborn genetic diseases [RCV000624628]|Verheij syndrome [RCV000495893] Chr8:143818426..143818434 [GRCh38]
Chr8:144900596..144900604 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) single nucleotide variant not provided [RCV000578598] Chr8:143817966 [GRCh38]
Chr8:144900136 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.478_479del (p.Met160fs) deletion Inborn genetic diseases [RCV000623843] Chr8:143818404..143818405 [GRCh38]
Chr8:144900574..144900575 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.503_509del (p.Lys168fs) deletion Verheij syndrome [RCV000709921] Chr8:143818374..143818380 [GRCh38]
Chr8:144900544..144900550 [GRCh37]
Chr8:8q24.3
not provided
NM_078480.3(PUF60):c.60_62GGC[6] (p.Ala25dup) microsatellite not provided [RCV000900520]|not specified [RCV000736113] Chr8:143824349..143824350 [GRCh38]
Chr8:144906519..144906520 [GRCh37]
Chr8:8q24.3
benign|likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144775871-144943223)x3 copy number gain not provided [RCV000747964] Chr8:144775871..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144808293-144943223)x3 copy number gain not provided [RCV000747968] Chr8:144808293..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144810306-144943223)x3 copy number gain not provided [RCV000747974] Chr8:144810306..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811338-145058399)x3 copy number gain not provided [RCV000747975] Chr8:144811338..145058399 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811340-144943223)x3 copy number gain not provided [RCV000747976] Chr8:144811340..144943223 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) deletion Verheij syndrome [RCV000988122] Chr8:143821675 [GRCh38]
Chr8:144903845 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.51dup (p.Ser18fs) duplication not provided [RCV001058106] Chr8:143824372..143824373 [GRCh38]
Chr8:144906542..144906543 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.822C>T (p.Tyr274=) single nucleotide variant not provided [RCV000881051] Chr8:143817778 [GRCh38]
Chr8:144899948 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.511-4C>T single nucleotide variant not provided [RCV000929459] Chr8:143818289 [GRCh38]
Chr8:144900459 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.1329G>C (p.Ser443=) single nucleotide variant not provided [RCV000972264] Chr8:143816961 [GRCh38]
Chr8:144899131 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV000924319] Chr8:143824370 [GRCh38]
Chr8:144906540 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144868670-144912400) copy number loss not provided [RCV000767662] Chr8:144868670..144912400 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.63G>A (p.Ala21=) single nucleotide variant not provided [RCV000928011] Chr8:143824361 [GRCh38]
Chr8:144906531 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.561G>A (p.Leu187=) single nucleotide variant not provided [RCV000925531] Chr8:143818235 [GRCh38]
Chr8:144900405 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.810C>T (p.Gly270=) single nucleotide variant not provided [RCV000928277] Chr8:143817869 [GRCh38]
Chr8:144900039 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.219C>T (p.Tyr73=) single nucleotide variant not provided [RCV000909164] Chr8:143821675 [GRCh38]
Chr8:144903845 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV000916406] Chr8:143821871 [GRCh38]
Chr8:144904041 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.66G>T (p.Ala22=) single nucleotide variant not provided [RCV000922192] Chr8:143824358 [GRCh38]
Chr8:144906528 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.1266G>A (p.Glu422=) single nucleotide variant not provided [RCV000896533] Chr8:143817024 [GRCh38]
Chr8:144899194 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.546T>C (p.Ala182=) single nucleotide variant not provided [RCV000897767] Chr8:143818250 [GRCh38]
Chr8:144900420 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.931del (p.Thr311fs) deletion Verheij syndrome [RCV000985093] Chr8:143817669 [GRCh38]
Chr8:144899839 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.11:g.143829279C>G single nucleotide variant Verheij syndrome [RCV000824851]   uncertain significance
NM_078480.3(PUF60):c.1558del (p.Ser520fs) deletion Verheij syndrome [RCV000825004] Chr8:143816642 [GRCh38]
Chr8:144898812 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_078480.3(PUF60):c.753G>A (p.Lys251=) single nucleotide variant not provided [RCV000908359] Chr8:143817926 [GRCh38]
Chr8:144900096 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.1162_1164CCT[1] (p.Pro389del) microsatellite not provided [RCV000911019] Chr8:143817123..143817125 [GRCh38]
Chr8:144899293..144899295 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.1254G>A (p.Glu418=) single nucleotide variant not provided [RCV000953602] Chr8:143817036 [GRCh38]
Chr8:144899206 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.390C>T (p.Arg130=) single nucleotide variant not provided [RCV000931109] Chr8:143818493 [GRCh38]
Chr8:144900663 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.1569T>C (p.Ser523=) single nucleotide variant not provided [RCV000954181] Chr8:143816631 [GRCh38]
Chr8:144898801 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.1094G>C (p.Gly365Ala) single nucleotide variant not provided [RCV001219946] Chr8:143817381 [GRCh38]
Chr8:144899551 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.297+9C>T single nucleotide variant Verheij syndrome [RCV001197597] Chr8:143821588 [GRCh38]
Chr8:144903758 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.1145-6C>T single nucleotide variant not provided [RCV000933890] Chr8:143817151 [GRCh38]
Chr8:144899321 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.60G>A (p.Pro20=) single nucleotide variant not provided [RCV000911520] Chr8:143824364 [GRCh38]
Chr8:144906534 [GRCh37]
Chr8:8q24.3
benign
NM_078480.3(PUF60):c.777G>C (p.Arg259=) single nucleotide variant not provided [RCV000911799] Chr8:143817902 [GRCh38]
Chr8:144900072 [GRCh37]
Chr8:8q24.3
likely benign
NM_078480.3(PUF60):c.464del (p.Ile155fs) deletion Verheij syndrome [RCV001192879] Chr8:143818419 [GRCh38]
Chr8:144900589 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1187C>A (p.Ser396Ter) single nucleotide variant not provided [RCV001171553] Chr8:143817103 [GRCh38]
Chr8:144899273 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_078480.3(PUF60):c.1569dup (p.Glu524Ter) duplication Verheij syndrome [RCV001249668] Chr8:143816630..143816631 [GRCh38]
Chr8:144898800..144898801 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) deletion Verheij syndrome [RCV001252602] Chr8:143821609..143821610 [GRCh38]
Chr8:144903779..144903780 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) deletion Verheij syndrome [RCV001254174] Chr8:143818049..143818067 [GRCh38]
Chr8:144900219..144900237 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) microsatellite Verheij syndrome [RCV001252600] Chr8:143817966..143817967 [GRCh38]
Chr8:144900136..144900137 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) insertion Verheij syndrome [RCV001252601] Chr8:143817932..143817933 [GRCh38]
Chr8:144900102..144900103 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.510+1G>T single nucleotide variant Inborn genetic diseases [RCV001266278] Chr8:143818372 [GRCh38]
Chr8:144900542 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.608dup (p.Arg204fs) duplication Inborn genetic diseases [RCV001267414] Chr8:143818070..143818071 [GRCh38]
Chr8:144900240..144900241 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) single nucleotide variant Verheij syndrome [RCV001267730] Chr8:143816729 [GRCh38]
Chr8:144898899 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) microsatellite Neurodevelopmental abnormality [RCV001264671] Chr8:143816526..143816527 [GRCh38]
Chr8:144898696..144898697 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.533_535del (p.Glu178del) deletion Inborn genetic diseases [RCV001265675] Chr8:143818261..143818263 [GRCh38]
Chr8:144900431..144900433 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) single nucleotide variant Verheij syndrome [RCV001262514] Chr8:143817993 [GRCh38]
Chr8:144900163 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) single nucleotide variant Verheij syndrome [RCV001336869] Chr8:143818051 [GRCh38]
Chr8:144900221 [GRCh37]
Chr8:8q24.3
pathogenic
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) single nucleotide variant Verheij syndrome [RCV001332786] Chr8:143816711 [GRCh38]
Chr8:144898881 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_078480.3(PUF60):c.1399C>G (p.Arg467Gly) single nucleotide variant Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [RCV001293637] Chr8:143816801 [GRCh38]
Chr8:144898971 [GRCh37]
Chr8:8q24.3
likely pathogenic
NM_078480.3(PUF60):c.603G>A (p.Lys201=) single nucleotide variant Verheij syndrome [RCV001336868] Chr8:143818193 [GRCh38]
Chr8:144900363 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17042 AgrOrtholog
COSMIC PUF60 COSMIC
Ensembl Genes ENSG00000179950 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274081 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000322016 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000322036 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395417 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402953 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431960 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432091 UniProtKB/TrEMBL
  ENSP00000432610 UniProtKB/TrEMBL
  ENSP00000433403 UniProtKB/TrEMBL
  ENSP00000434359 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434863 UniProtKB/TrEMBL
  ENSP00000436131 UniProtKB/TrEMBL
  ENSP00000437309 UniProtKB/TrEMBL
  ENSP00000478209 UniProtKB/Swiss-Prot
  ENSP00000478495 UniProtKB/Swiss-Prot
  ENSP00000484860 UniProtKB/Swiss-Prot
  ENSP00000487614 UniProtKB/TrEMBL
  ENSP00000487637 UniProtKB/TrEMBL
  ENSP00000487894 UniProtKB/TrEMBL
  ENSP00000487930 UniProtKB/Swiss-Prot
  ENSP00000487945 UniProtKB/Swiss-Prot
  ENSP00000488027 UniProtKB/TrEMBL
  ENSP00000488281 UniProtKB/TrEMBL
  ENSP00000488339 UniProtKB/TrEMBL
  ENSP00000488399 UniProtKB/TrEMBL
  ENSP00000488435 UniProtKB/TrEMBL
  ENSP00000488595 UniProtKB/TrEMBL
  ENSP00000488903 UniProtKB/TrEMBL
Ensembl Transcript ENST00000313352 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000349157 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000453551 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526459 UniProtKB/TrEMBL
  ENST00000526683 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527744 UniProtKB/TrEMBL
  ENST00000529999 UniProtKB/TrEMBL
  ENST00000531897 UniProtKB/TrEMBL
  ENST00000532884 UniProtKB/TrEMBL
  ENST00000533162 UniProtKB/TrEMBL
  ENST00000612237 UniProtKB/Swiss-Prot
  ENST00000620341 UniProtKB/Swiss-Prot
  ENST00000620953 UniProtKB/Swiss-Prot
  ENST00000631439 UniProtKB/TrEMBL
  ENST00000631813 UniProtKB/TrEMBL
  ENST00000632085 UniProtKB/TrEMBL
  ENST00000632399 UniProtKB/TrEMBL
  ENST00000632444 UniProtKB/Swiss-Prot
  ENST00000632477 UniProtKB/TrEMBL
  ENST00000632796 UniProtKB/TrEMBL
  ENST00000632872 UniProtKB/TrEMBL
  ENST00000632993 UniProtKB/TrEMBL
  ENST00000633206 UniProtKB/Swiss-Prot
  ENST00000633617 UniProtKB/TrEMBL
  ENST00000634206 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179950 GTEx
  ENSG00000274081 GTEx
HGNC ID HGNC:17042 ENTREZGENE
Human Proteome Map PUF60 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolyU-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUF60_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUF60_RRM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUF60_RRM3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22827 UniProtKB/Swiss-Prot
NCBI Gene 22827 ENTREZGENE
OMIM 604819 OMIM
  615583 OMIM
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162400364 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs half-pint UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YVP6_HUMAN UniProtKB/TrEMBL
  A0A0J9YVR6_HUMAN UniProtKB/TrEMBL
  A0A0J9YWM1_HUMAN UniProtKB/TrEMBL
  A0A0J9YXJ8_HUMAN UniProtKB/TrEMBL
  A0A0J9YXX5_HUMAN UniProtKB/TrEMBL
  A0A0J9YYL3_HUMAN UniProtKB/TrEMBL
  E9PL19_HUMAN UniProtKB/TrEMBL
  E9PMU7_HUMAN UniProtKB/TrEMBL
  E9PN18_HUMAN UniProtKB/TrEMBL
  E9PQ56_HUMAN UniProtKB/TrEMBL
  H0YCP8_HUMAN UniProtKB/TrEMBL
  H0YEM1_HUMAN UniProtKB/TrEMBL
  PUF60_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K8K8 UniProtKB/Swiss-Prot
  Q969E7 UniProtKB/Swiss-Prot
  Q96D94 UniProtKB/Swiss-Prot
  Q96H63 UniProtKB/Swiss-Prot
  Q99628 UniProtKB/Swiss-Prot
  Q9NZA0 UniProtKB/Swiss-Prot
  Q9UJY7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 PUF60  poly(U) binding splicing factor 60    poly(U) binding splicing factor 60KDa  Symbol and/or name change 5135510 APPROVED
2015-11-24 PUF60  poly(U) binding splicing factor 60KDa    poly-U binding splicing factor 60KDa  Symbol and/or name change 5135510 APPROVED