FZR1 (fizzy and cell division cycle 20 related 1) - Rat Genome Database

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Gene: FZR1 (fizzy and cell division cycle 20 related 1) Homo sapiens
Analyze
Symbol: FZR1
Name: fizzy and cell division cycle 20 related 1
RGD ID: 1318646
HGNC Page HGNC
Description: Predicted to enable anaphase-promoting complex binding activity and ubiquitin ligase activator activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of protein metabolic process. Located in nuclear membrane and nucleoplasm. Colocalizes with anaphase-promoting complex; PARTICIPATES IN cell cycle pathway, mitotic; ubiquitin/proteasome degradation pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; acrolein.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CDC20 homolog 1; CDC20-like 1b; CDC20-like protein 1; CDC20C; CDH1; cdh1/Hct1 homolog; fizzy-related protein homolog; fizzy/cell division cycle 20 related 1; FZR; FZR2; HCDH; HCDH1; KIAA1242
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
NCBI Annotation Information: Note: CDH1 (GeneID 999) and FZR1 (GeneID 51343) share the CDH1 symbol. CDH1 is sometimes used as an abbreviation for 'CDC20 homolog 1' which is an alternate name for the FZR1 gene and thus can be confused with the official symbol for cadherin 1 (CDH1). [16 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl193,506,311 - 3,538,334 (+)EnsemblGRCh38hg38GRCh38
GRCh38193,506,263 - 3,538,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37193,506,309 - 3,538,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,473,954 - 3,489,325 (+)NCBINCBI36hg18NCBI36
Build 34193,473,953 - 3,489,325NCBI
Celera193,443,104 - 3,473,565 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,272,276 - 3,302,307 (+)NCBIHuRef
CHM1_1193,505,941 - 3,536,425 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9637688   PMID:9734353   PMID:9811605   PMID:10500174   PMID:10548110   PMID:10574462   PMID:10793135   PMID:10922056   PMID:10995389   PMID:11003657   PMID:11340163   PMID:11459825  
PMID:11459826   PMID:11562349   PMID:11598127   PMID:11691834   PMID:11751633   PMID:11931757   PMID:11988738   PMID:12097298   PMID:12198152   PMID:12234927   PMID:12477932   PMID:12560341  
PMID:12791267   PMID:12797865   PMID:12956947   PMID:14701726   PMID:15014502   PMID:15014503   PMID:15029244   PMID:15057824   PMID:15144564   PMID:15469984   PMID:15489334   PMID:15916961  
PMID:15923616   PMID:16138013   PMID:16169070   PMID:16287863   PMID:16479161   PMID:16921029   PMID:17001306   PMID:17130831   PMID:17187060   PMID:17207965   PMID:17215516   PMID:17227951  
PMID:17283060   PMID:17339342   PMID:17403670   PMID:17609108   PMID:17632060   PMID:17719540   PMID:17942546   PMID:18029348   PMID:18162579   PMID:18174259   PMID:18212744   PMID:18321983  
PMID:18372912   PMID:18381934   PMID:18485873   PMID:18573889   PMID:18662541   PMID:18758239   PMID:18818692   PMID:18976910   PMID:19270695   PMID:19350629   PMID:19475398   PMID:19477924  
PMID:19483727   PMID:19686743   PMID:19822757   PMID:19823035   PMID:19861496   PMID:20064487   PMID:20080579   PMID:20080744   PMID:20360068   PMID:20383333   PMID:20395298   PMID:20424596  
PMID:20439707   PMID:20508983   PMID:20530197   PMID:20581839   PMID:20663873   PMID:20686030   PMID:20729194   PMID:20802534   PMID:20921411   PMID:20937767   PMID:20966048   PMID:21135578  
PMID:21186356   PMID:21186364   PMID:21212736   PMID:21241890   PMID:21325626   PMID:21439932   PMID:21497201   PMID:21596315   PMID:21700221   PMID:21768287   PMID:21873635   PMID:21886810  
PMID:21903591   PMID:21986944   PMID:22014574   PMID:22152476   PMID:22178396   PMID:22205987   PMID:22426463   PMID:22529100   PMID:22580460   PMID:22580462   PMID:22632967   PMID:22654103  
PMID:22770219   PMID:22854063   PMID:22949615   PMID:22990118   PMID:23029325   PMID:23029392   PMID:23042605   PMID:23078409   PMID:23091007   PMID:23160376   PMID:23226367   PMID:23239745  
PMID:23263983   PMID:23469016   PMID:23539442   PMID:23589330   PMID:23613471   PMID:23637229   PMID:23643811   PMID:23670162   PMID:23696789   PMID:23707760   PMID:23708001   PMID:23708605  
PMID:23775192   PMID:23776205   PMID:23972993   PMID:23979597   PMID:24100295   PMID:24163370   PMID:24356446   PMID:24362530   PMID:24811168   PMID:24906885   PMID:24930963   PMID:25043029  
PMID:25161877   PMID:25241761   PMID:25306918   PMID:25306923   PMID:25347529   PMID:25349192   PMID:25375378   PMID:25483061   PMID:25490258   PMID:25505175   PMID:25640309   PMID:25649870  
PMID:25673878   PMID:25723520   PMID:25825779   PMID:25913861   PMID:26083744   PMID:26186194   PMID:26221070   PMID:26329581   PMID:26387737   PMID:26455319   PMID:26496610   PMID:26760575  
PMID:26939887   PMID:26963853   PMID:27080259   PMID:27097363   PMID:27114510   PMID:27120157   PMID:27259151   PMID:27312068   PMID:27368103   PMID:27374082   PMID:27402801   PMID:27453043  
PMID:27601667   PMID:27653696   PMID:27655696   PMID:27902968   PMID:27903963   PMID:28004426   PMID:28143883   PMID:28174173   PMID:28205554   PMID:28296622   PMID:28373167   PMID:28514442  
PMID:28655764   PMID:28986522   PMID:29117863   PMID:29150431   PMID:29160310   PMID:29343641   PMID:29449677   PMID:29549242   PMID:29700288   PMID:29875408   PMID:29973362   PMID:30498084  
PMID:31024071   PMID:31350353   PMID:31420536   PMID:31455778   PMID:31489637   PMID:31586073   PMID:31722219   PMID:31806563   PMID:31942069   PMID:32076268   PMID:32152539   PMID:32165494  
PMID:32345958   PMID:32393902   PMID:32478482   PMID:32811646   PMID:33218190  


Genomics

Comparative Map Data
FZR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl193,506,311 - 3,538,334 (+)EnsemblGRCh38hg38GRCh38
GRCh38193,506,263 - 3,538,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37193,506,309 - 3,538,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,473,954 - 3,489,325 (+)NCBINCBI36hg18NCBI36
Build 34193,473,953 - 3,489,325NCBI
Celera193,443,104 - 3,473,565 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef193,272,276 - 3,302,307 (+)NCBIHuRef
CHM1_1193,505,941 - 3,536,425 (+)NCBICHM1_1
Fzr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391081,202,713 - 81,214,204 (-)NCBIGRCm39mm39
GRCm39 Ensembl1081,202,056 - 81,214,350 (-)Ensembl
GRCm381081,366,879 - 81,378,370 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,366,222 - 81,378,516 (-)EnsemblGRCm38mm10GRCm38
MGSCv371080,829,624 - 80,841,115 (-)NCBIGRCm37mm9NCBIm37
MGSCv361080,770,008 - 80,781,499 (-)NCBImm8
Celera1082,387,912 - 82,399,403 (-)NCBICelera
Cytogenetic Map10C1NCBI
Fzr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.278,332,029 - 8,343,953 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl711,201,690 - 11,213,613 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0711,201,690 - 11,213,614 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0711,368,581 - 11,380,505 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.479,816,491 - 9,829,006 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.179,816,497 - 9,829,003 (+)NCBI
Celera76,521,094 - 6,533,016 (+)NCBICelera
Cytogenetic Map7q11NCBI
Fzr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554955,481,916 - 5,505,521 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554955,481,914 - 5,503,690 (+)NCBIChiLan1.0ChiLan1.0
FZR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1193,483,601 - 3,512,798 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl193,500,117 - 3,510,867 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0192,533,172 - 2,564,301 (+)NCBIMhudiblu_PPA_v0panPan3
FZR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,866,893 - 55,877,077 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,869,693 - 55,876,936 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,591,521 - 55,613,508 (-)NCBI
ROS_Cfam_1.02056,526,317 - 56,548,298 (-)NCBI
UMICH_Zoey_3.12055,581,995 - 55,603,964 (-)NCBI
UNSW_CanFamBas_1.02056,065,400 - 56,087,328 (-)NCBI
UU_Cfam_GSD_1.02056,264,144 - 56,286,128 (-)NCBI
Fzr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,827,214 - 215,833,762 (-)NCBI
SpeTri2.0NW_0049365882,000,872 - 2,007,569 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FZR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl275,118,832 - 75,146,837 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1275,122,599 - 75,164,134 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2275,783,163 - 75,789,212 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FZR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.163,272,247 - 3,300,370 (+)NCBI
ChlSab1.1 Ensembl63,288,407 - 3,298,464 (+)Ensembl
Vero_WHO_p1.0NW_0236660815,191,962 - 5,219,993 (-)NCBI
Fzr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248286,236,861 - 6,254,763 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4400
Count of miRNA genes:1066
Interacting mature miRNAs:1369
Transcripts:ENST00000313639, ENST00000395095, ENST00000441788, ENST00000586212, ENST00000588084, ENST00000588327, ENST00000591290, ENST00000592214
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 2396 2190 1599 501 1822 344 3934 1377 3279 354 1448 1598 172 1130 2374 4
Low 43 801 127 123 126 121 423 820 455 65 12 15 3 1 74 414 2 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB013462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB013463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF080397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF433157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB462260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313639   ⟹   ENSP00000321800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,522,990 - 3,534,836 (+)Ensembl
RefSeq Acc Id: ENST00000395095   ⟹   ENSP00000378529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,522,990 - 3,534,836 (+)Ensembl
RefSeq Acc Id: ENST00000441788   ⟹   ENSP00000410369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,506,273 - 3,538,330 (+)Ensembl
RefSeq Acc Id: ENST00000586212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,532,483 - 3,533,748 (+)Ensembl
RefSeq Acc Id: ENST00000588084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,534,285 - 3,535,236 (+)Ensembl
RefSeq Acc Id: ENST00000588327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,506,377 - 3,527,060 (+)Ensembl
RefSeq Acc Id: ENST00000591290   ⟹   ENSP00000467967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,522,984 - 3,534,839 (+)Ensembl
RefSeq Acc Id: ENST00000592214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,526,100 - 3,531,766 (+)Ensembl
RefSeq Acc Id: ENST00000652521   ⟹   ENSP00000498659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,506,363 - 3,536,002 (+)Ensembl
RefSeq Acc Id: NM_001136197   ⟹   NP_001129669
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,522,956 - 3,536,757 (+)NCBI
GRCh37193,506,261 - 3,536,755 (+)NCBI
HuRef193,272,276 - 3,302,307 (+)ENTREZGENE
CHM1_1193,522,647 - 3,536,425 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001136198   ⟹   NP_001129670
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,522,956 - 3,536,757 (+)NCBI
GRCh37193,506,261 - 3,536,755 (+)NCBI
HuRef193,272,276 - 3,302,307 (+)ENTREZGENE
CHM1_1193,522,647 - 3,536,425 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016263   ⟹   NP_057347
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,506,311 - 3,538,334 (+)NCBI
GRCh37193,506,261 - 3,536,755 (+)NCBI
Build 36193,473,954 - 3,489,325 (+)NCBI Archive
HuRef193,272,276 - 3,302,307 (+)ENTREZGENE
CHM1_1193,505,941 - 3,536,425 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259573   ⟹   XP_005259630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,506,263 - 3,536,194 (+)NCBI
GRCh37193,506,261 - 3,536,755 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026863   ⟹   XP_016882352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,518,018 - 3,536,194 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001753699
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,522,956 - 3,536,756 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057347   ⟸   NM_016263
- Peptide Label: isoform 2
- UniProtKB: Q9UM11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129670   ⟸   NM_001136198
- Peptide Label: isoform 1
- UniProtKB: Q9UM11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129669   ⟸   NM_001136197
- Peptide Label: isoform 3
- UniProtKB: Q9UM11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005259630   ⟸   XM_005259573
- Peptide Label: isoform X2
- UniProtKB: Q9UM11 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016882352   ⟸   XM_017026863
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000410369   ⟸   ENST00000441788
RefSeq Acc Id: ENSP00000498659   ⟸   ENST00000652521
RefSeq Acc Id: ENSP00000321800   ⟸   ENST00000313639
RefSeq Acc Id: ENSP00000378529   ⟸   ENST00000395095
RefSeq Acc Id: ENSP00000467967   ⟸   ENST00000591290
Protein Domains
WD_REPEATS_REGION

Promoters
RGD ID:6795586
Promoter ID:HG_KWN:28520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000221926,   ENST00000313639,   ENST00000395095
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,473,441 - 3,474,342 (+)MPROMDB
RGD ID:7238017
Promoter ID:EPDNEW_H24754
Type:initiation region
Name:FZR1_1
Description:fizzy and cell division cycle 20 related 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24748  EPDNEW_H24755  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,506,311 - 3,506,371EPDNEW
RGD ID:7238019
Promoter ID:EPDNEW_H24755
Type:multiple initiation site
Name:FZR1_3
Description:fizzy and cell division cycle 20 related 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24748  EPDNEW_H24754  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,509,121 - 3,509,181EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3 copy number gain See cases [RCV000054107] Chr19:3080621..3730716 [GRCh38]
Chr19:3080619..3730714 [GRCh37]
Chr19:3031619..3681714 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 copy number loss See cases [RCV000135779] Chr19:3437996..4039217 [GRCh38]
Chr19:3437994..4039215 [GRCh37]
Chr19:3388994..3990215 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:3536419-3551065)x3 copy number gain See cases [RCV000445863] Chr19:3536419..3551065 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:3015481-3543109)x3 copy number gain not provided [RCV000740000] Chr19:3015481..3543109 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:3471275-3647901)x3 copy number gain not provided [RCV000740003] Chr19:3471275..3647901 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3
pathogenic
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3 copy number gain not provided [RCV000847631] Chr19:3132909..3907470 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24824 AgrOrtholog
COSMIC FZR1 COSMIC
Ensembl Genes ENSG00000105325 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000321800 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378529 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410369 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000467967 UniProtKB/TrEMBL
  ENSP00000498659 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395095 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441788 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591290 UniProtKB/TrEMBL
  ENST00000652521 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105325 GTEx
HGNC ID HGNC:24824 ENTREZGENE
Human Proteome Map FZR1 Human Proteome Map
InterPro Apc4_WD40_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cdc20/Fizzy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_CS UniProtKB/Swiss-Prot
  WD40_repeat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:51343 UniProtKB/Swiss-Prot
NCBI Gene 51343 ENTREZGENE
OMIM 603619 OMIM
PANTHER PTHR19918 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANAPC4_WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134896003 PharmGKB
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
UniProt FZR1_HUMAN UniProtKB/Swiss-Prot
  K7EQT1_HUMAN UniProtKB/TrEMBL
  Q9UM11 ENTREZGENE
UniProt Secondary O75869 UniProtKB/Swiss-Prot
  Q86U66 UniProtKB/Swiss-Prot
  Q96NW8 UniProtKB/Swiss-Prot
  Q9UI96 UniProtKB/Swiss-Prot
  Q9ULH8 UniProtKB/Swiss-Prot
  Q9UM10 UniProtKB/Swiss-Prot
  Q9UNQ1 UniProtKB/Swiss-Prot
  Q9Y2T8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-24 FZR1  fizzy and cell division cycle 20 related 1    fizzy/cell division cycle 20 related 1  Symbol and/or name change 5135510 APPROVED
2015-06-09 FZR1  fizzy/cell division cycle 20 related 1    fizzy/cell division cycle 20 related 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED