FUZ (fuzzy planar cell polarity protein) - Rat Genome Database

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Gene: FUZ (fuzzy planar cell polarity protein) Homo sapiens
Analyze
Symbol: FUZ
Name: fuzzy planar cell polarity protein
RGD ID: 1602203
HGNC Page HGNC:26219
Description: Predicted to enable phosphatidylinositol binding activity. Involved in several processes, including neural tube closure; non-motile cilium assembly; and positive regulation of cilium assembly. Located in extracellular exosome. Implicated in neural tube defect.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ciliogenesis and planar polarity effector 3; ciliogenesis and planar polarity effector complex subunit 3; CPLANE3; FLJ22688; fuzzy homolog; FY; NTD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,806,866 - 49,813,553 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,806,866 - 49,817,376 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,310,123 - 50,316,549 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,001,961 - 55,008,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1947,179,576 - 47,186,020 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,686,436 - 46,692,879 (-)NCBIHuRef
CHM1_11950,311,942 - 50,318,409 (-)NCBICHM1_1
T2T-CHM13v2.01952,807,004 - 52,813,691 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:16189514   PMID:16493421   PMID:16712791   PMID:19056867   PMID:21761479   PMID:21840926   PMID:21873635   PMID:23824909   PMID:26186194   PMID:27158779  
PMID:27173435   PMID:28514442   PMID:28986522   PMID:29421438   PMID:29987050   PMID:30026307   PMID:32296183   PMID:33658400   PMID:33961781   PMID:35427153   PMID:35914814   PMID:38702430  


Genomics

Comparative Map Data
FUZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,806,866 - 49,813,553 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,806,866 - 49,817,376 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,310,123 - 50,316,549 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,001,961 - 55,008,280 (-)NCBINCBI36Build 36hg18NCBI36
Celera1947,179,576 - 47,186,020 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,686,436 - 46,692,879 (-)NCBIHuRef
CHM1_11950,311,942 - 50,318,409 (-)NCBICHM1_1
T2T-CHM13v2.01952,807,004 - 52,813,691 (-)NCBIT2T-CHM13v2.0
Fuz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,545,517 - 44,552,053 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,545,503 - 44,552,055 (+)EnsemblGRCm39 Ensembl
GRCm38744,894,305 - 44,900,624 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,896,079 - 44,902,631 (+)EnsemblGRCm38mm10GRCm38
MGSCv37752,151,449 - 52,155,994 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,766,647 - 44,768,389 (+)NCBIMGSCv36mm8
Celera740,346,281 - 40,350,826 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.99NCBI
Fuz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,515,782 - 104,524,591 (+)NCBIGRCr8
mRatBN7.2195,379,542 - 95,384,532 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,379,587 - 95,384,530 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,764,983 - 100,769,925 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,237,648 - 109,242,590 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,528,041 - 102,532,983 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,891,832 - 100,896,811 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,891,866 - 100,896,807 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,956,459 - 101,961,429 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,368,416 - 95,373,967 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1195,446,539 - 95,451,301 (+)NCBI
Celera189,641,309 - 89,646,323 (+)NCBICelera
Cytogenetic Map1q22NCBI
Fuz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,112,855 - 1,117,413 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,112,670 - 1,117,620 (+)NCBIChiLan1.0ChiLan1.0
FUZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,922,445 - 55,928,900 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,843,455 - 57,849,635 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,819,833 - 46,826,235 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,736,325 - 55,742,589 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,736,325 - 55,742,589 (-)Ensemblpanpan1.1panPan2
FUZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,742,381 - 106,752,543 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,747,860 - 106,805,699 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,330,638 - 106,335,786 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,268,672 - 107,273,819 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,268,737 - 107,273,513 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,940,734 - 106,945,881 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,582,739 - 106,587,885 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,423,205 - 107,428,353 (+)NCBIUU_Cfam_GSD_1.0
Fuz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934921,978,574 - 21,983,480 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,596,952 - 3,601,342 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,596,764 - 3,601,676 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FUZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,823,668 - 54,829,506 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,823,680 - 54,830,425 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,552,812 - 50,559,474 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FUZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1642,968,715 - 42,975,374 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl642,969,000 - 42,975,368 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607322,943,449 - 22,949,774 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fuz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,509,505 - 4,514,183 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248324,509,118 - 4,514,180 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FUZ
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_025129.5(FUZ):c.98_111+9del deletion Short-rib thoracic dysplasia 6 with or without polydactyly [RCV000516118] Chr19:49812987..49813009 [GRCh38]
Chr19:50316244..50316266 [GRCh37]
Chr19:19q13.33
pathogenic|likely pathogenic
NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln) single nucleotide variant Neural tube defects, susceptibility to [RCV000024615] Chr19:49807197 [GRCh38]
Chr19:50310454 [GRCh37]
Chr19:19q13.33
pathogenic|risk factor
NM_025129.5(FUZ):c.630dup (p.Ser211fs) duplication not provided [RCV000723185] Chr19:49809437..49809438 [GRCh38]
Chr19:50312694..50312695 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.387+2T>G single nucleotide variant not provided [RCV000723236] Chr19:49811629 [GRCh38]
Chr19:50314886 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) single nucleotide variant Jeune thoracic dystrophy [RCV000515994] Chr19:49808759 [GRCh38]
Chr19:50312016 [GRCh37]
Chr19:19q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_025129.5(FUZ):c.115C>T (p.Pro39Ser) single nucleotide variant Neural tube defects, susceptibility to [RCV000024613] Chr19:49812733 [GRCh38]
Chr19:50315990 [GRCh37]
Chr19:19q13.33
pathogenic|risk factor
NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr) single nucleotide variant Neural tube defects, susceptibility to [RCV000024614] Chr19:49807348 [GRCh38]
Chr19:50310605 [GRCh37]
Chr19:19q13.33
pathogenic|risk factor
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_014203.2(AP2A1):c.2115-104C>T single nucleotide variant Malignant melanoma [RCV000072263] Chr19:49802430 [GRCh38]
Chr19:50305687 [GRCh37]
Chr19:54997499 [NCBI36]
Chr19:19q13.33
not provided
NM_025129.5(FUZ):c.1238C>A (p.Ala413Asp) single nucleotide variant not provided [RCV000513810] Chr19:49807170 [GRCh38]
Chr19:50310427 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.1253_1255del (p.Leu418_Ter419delinsArg) deletion not provided [RCV000722208] Chr19:49807153..49807155 [GRCh38]
Chr19:50310410..50310412 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.234-2A>G single nucleotide variant not provided [RCV000722601] Chr19:49812337 [GRCh38]
Chr19:50315594 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.716_727del (p.Thr239_Pro242del) deletion not provided [RCV000722824] Chr19:49809222..49809233 [GRCh38]
Chr19:50312479..50312490 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.436G>A (p.Gly146Arg) single nucleotide variant not specified [RCV004315356] Chr19:49811419 [GRCh38]
Chr19:50314676 [GRCh37]
Chr19:19q13.33
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
NM_025129.5(FUZ):c.850dup (p.Arg284fs) duplication not provided [RCV000722593] Chr19:49808759..49808760 [GRCh38]
Chr19:50312016..50312017 [GRCh37]
Chr19:19q13.33
uncertain significance
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
NM_025129.5(FUZ):c.360C>T (p.Asn120=) single nucleotide variant not provided [RCV000895458] Chr19:49811658 [GRCh38]
Chr19:50314915 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.100G>T (p.Ala34Ser) single nucleotide variant not provided [RCV000969324] Chr19:49813007 [GRCh38]
Chr19:50316264 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.405C>T (p.Ile135=) single nucleotide variant Neural tube defect [RCV002505479]|not provided [RCV000972954] Chr19:49811450 [GRCh38]
Chr19:50314707 [GRCh37]
Chr19:19q13.33
benign|likely benign
NM_025129.5(FUZ):c.204G>A (p.Thr68=) single nucleotide variant not provided [RCV000926412] Chr19:49812644 [GRCh38]
Chr19:50315901 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.945C>T (p.Pro315=) single nucleotide variant not provided [RCV000879478] Chr19:49808587 [GRCh38]
Chr19:50311844 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.1168CTG[4] (p.Leu394del) microsatellite not provided [RCV000950853] Chr19:49807226..49807228 [GRCh38]
Chr19:50310483..50310485 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.112-9C>G single nucleotide variant not provided [RCV000901315] Chr19:49812745 [GRCh38]
Chr19:50316002 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.493-4C>A single nucleotide variant not provided [RCV000922666] Chr19:49809579 [GRCh38]
Chr19:50312836 [GRCh37]
Chr19:19q13.33
likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_025129.5(FUZ):c.1002T>C (p.Tyr334=) single nucleotide variant not provided [RCV000948487] Chr19:49808445 [GRCh38]
Chr19:50311702 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.946T>C (p.Leu316=) single nucleotide variant not provided [RCV000940453] Chr19:49808586 [GRCh38]
Chr19:50311843 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.1060G>A (p.Asp354Asn) single nucleotide variant not provided [RCV000878991] Chr19:49807348 [GRCh38]
Chr19:50310605 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.456G>A (p.Val152=) single nucleotide variant FUZ-related disorder [RCV003923265]|not provided [RCV000919502] Chr19:49811399 [GRCh38]
Chr19:50314656 [GRCh37]
Chr19:19q13.33
benign|likely benign
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.827G>A (p.Arg276Gln) single nucleotide variant not specified [RCV004294950] Chr19:49808783 [GRCh38]
Chr19:50312040 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.462C>T (p.Cys154=) single nucleotide variant not provided [RCV000913782] Chr19:49811393 [GRCh38]
Chr19:50314650 [GRCh37]
Chr19:19q13.33
likely benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) single nucleotide variant Neural tube defect [RCV001799552]|not specified [RCV004040870] Chr19:49811409 [GRCh38]
Chr19:50314666 [GRCh37]
Chr19:19q13.33
association|uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41
likely pathogenic
NC_000019.9:g.(?_49519325)_(50366015_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV002030046] Chr19:49519325..50366015 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.130G>T (p.Gly44Cys) single nucleotide variant not specified [RCV004783331] Chr19:49812718 [GRCh38]
Chr19:50315975 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.694C>T (p.Pro232Ser) single nucleotide variant not specified [RCV004233734] Chr19:49809255 [GRCh38]
Chr19:50312512 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.406G>A (p.Asp136Asn) single nucleotide variant not specified [RCV004093236] Chr19:49811449 [GRCh38]
Chr19:50314706 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.463G>A (p.Val155Met) single nucleotide variant not specified [RCV004129985] Chr19:49811392 [GRCh38]
Chr19:50314649 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.824T>G (p.Leu275Trp) single nucleotide variant not specified [RCV004074728] Chr19:49808786 [GRCh38]
Chr19:50312043 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.366G>C (p.Glu122Asp) single nucleotide variant not specified [RCV004206173] Chr19:49811652 [GRCh38]
Chr19:50314909 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.78G>C (p.Arg26Ser) single nucleotide variant not specified [RCV004168361] Chr19:49813029 [GRCh38]
Chr19:50316286 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.86G>A (p.Arg29His) single nucleotide variant not specified [RCV004217059] Chr19:49813021 [GRCh38]
Chr19:50316278 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.499C>G (p.Leu167Val) single nucleotide variant not specified [RCV004096894] Chr19:49809569 [GRCh38]
Chr19:50312826 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.332G>T (p.Gly111Val) single nucleotide variant not specified [RCV004272626] Chr19:49811686 [GRCh38]
Chr19:50314943 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.625G>T (p.Val209Leu) single nucleotide variant not specified [RCV004255616] Chr19:49809443 [GRCh38]
Chr19:50312700 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.1081C>A (p.Leu361Met) single nucleotide variant not specified [RCV004257614] Chr19:49807327 [GRCh38]
Chr19:50310584 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.892G>C (p.Gly298Arg) single nucleotide variant not specified [RCV004278340] Chr19:49808718 [GRCh38]
Chr19:50311975 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.625_636del (p.Val209_Leu212del) deletion See cases [RCV003331547] Chr19:49809432..49809443 [GRCh38]
Chr19:50312689..50312700 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.601G>A (p.Glu201Lys) single nucleotide variant See cases [RCV003331546] Chr19:49809467 [GRCh38]
Chr19:50312724 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.961C>G (p.Pro321Ala) single nucleotide variant not provided [RCV003331498] Chr19:49808486 [GRCh38]
Chr19:50311743 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.413T>C (p.Phe138Ser) single nucleotide variant not specified [RCV004334689] Chr19:49811442 [GRCh38]
Chr19:50314699 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43
likely pathogenic
NM_025129.5(FUZ):c.434T>A (p.Ile145Asn) single nucleotide variant FUZ-related disorder [RCV003405945] Chr19:49811421 [GRCh38]
Chr19:50314678 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41
likely pathogenic
NM_025129.5(FUZ):c.900G>A (p.Leu300=) single nucleotide variant FUZ-related disorder [RCV003957052] Chr19:49808632 [GRCh38]
Chr19:50311889 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.1104G>T (p.Val368=) single nucleotide variant FUZ-related disorder [RCV003963968] Chr19:49807304 [GRCh38]
Chr19:50310561 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.319-4C>G single nucleotide variant FUZ-related disorder [RCV003931565] Chr19:49811703 [GRCh38]
Chr19:50314960 [GRCh37]
Chr19:19q13.33
likely benign
NM_025129.5(FUZ):c.672G>A (p.Leu224=) single nucleotide variant FUZ-related disorder [RCV003976357] Chr19:49809396 [GRCh38]
Chr19:50312653 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.1199C>T (p.Thr400Ile) single nucleotide variant FUZ-related disorder [RCV003974605] Chr19:49807209 [GRCh38]
Chr19:50310466 [GRCh37]
Chr19:19q13.33
benign
NM_025129.5(FUZ):c.638C>T (p.Pro213Leu) single nucleotide variant not specified [RCV004389857] Chr19:49809430 [GRCh38]
Chr19:50312687 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.751G>C (p.Gly251Arg) single nucleotide variant not specified [RCV004389858] Chr19:49809198 [GRCh38]
Chr19:50312455 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.807G>T (p.Gln269His) single nucleotide variant not specified [RCV004389860] Chr19:49808803 [GRCh38]
Chr19:50312060 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.890T>A (p.Leu297His) single nucleotide variant not specified [RCV004389861] Chr19:49808720 [GRCh38]
Chr19:50311977 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.994A>G (p.Asn332Asp) single nucleotide variant not specified [RCV004389862] Chr19:49808453 [GRCh38]
Chr19:50311710 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.1096T>C (p.Tyr366His) single nucleotide variant not specified [RCV004389855] Chr19:49807312 [GRCh38]
Chr19:50310569 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.1136G>A (p.Arg379His) single nucleotide variant not specified [RCV004389856] Chr19:49807272 [GRCh38]
Chr19:50310529 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.233+4C>G single nucleotide variant not specified [RCV004587715] Chr19:49812611 [GRCh38]
Chr19:50315868 [GRCh37]
Chr19:19q13.33
uncertain significance
NC_000019.9:g.(?_49713446)_(50413064_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV004581120] Chr19:49713446..50413064 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.950G>A (p.Gly317Glu) single nucleotide variant not specified [RCV004618884] Chr19:49808582 [GRCh38]
Chr19:50311839 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.1175T>C (p.Leu392Pro) single nucleotide variant not specified [RCV004618885] Chr19:49807233 [GRCh38]
Chr19:50310490 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.64C>T (p.Pro22Ser) single nucleotide variant not provided [RCV004811407] Chr19:49813043 [GRCh38]
Chr19:50316300 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.505G>T (p.Gly169Trp) single nucleotide variant FUZ-related disorder [RCV004755066] Chr19:49809563 [GRCh38]
Chr19:50312820 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.749G>C (p.Cys250Ser) single nucleotide variant not specified [RCV004921943] Chr19:49809200 [GRCh38]
Chr19:50312457 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.1159C>T (p.Leu387Phe) single nucleotide variant not specified [RCV004921944] Chr19:49807249 [GRCh38]
Chr19:50310506 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_025129.5(FUZ):c.496G>T (p.Ala166Ser) single nucleotide variant not specified [RCV004930253] Chr19:49809572 [GRCh38]
Chr19:50312829 [GRCh37]
Chr19:19q13.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7153
Count of miRNA genes:990
Interacting mature miRNAs:1256
Transcripts:ENST00000313777, ENST00000377092, ENST00000445575, ENST00000525130, ENST00000525370, ENST00000525800, ENST00000526435, ENST00000526575, ENST00000527111, ENST00000527585, ENST00000527973, ENST00000528043, ENST00000528094, ENST00000529302, ENST00000529634, ENST00000531017, ENST00000533418, ENST00000534008, ENST00000534138
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH75669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,310,107 - 50,310,350UniSTSGRCh37
Build 361955,001,919 - 55,002,162RGDNCBI36
Celera1947,179,560 - 47,179,803RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,686,420 - 46,686,663UniSTS
Ap2a1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,310,178 - 50,310,351UniSTSGRCh37
Build 361955,001,990 - 55,002,163RGDNCBI36
Celera1947,179,631 - 47,179,804RGD
HuRef1946,686,491 - 46,686,664UniSTS
AP2A1__4334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,309,981 - 50,310,418UniSTSGRCh37
Build 361955,001,793 - 55,002,230RGDNCBI36
Celera1947,179,434 - 47,179,871RGD
HuRef1946,686,294 - 46,686,731UniSTS
STS-AA031950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,310,008 - 50,310,128UniSTSGRCh37
Build 361955,001,820 - 55,001,940RGDNCBI36
Celera1947,179,461 - 47,179,581RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,686,321 - 46,686,441UniSTS
GeneMap99-GB4 RH Map19270.36UniSTS
NCBI RH Map19527.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2427 2788 2251 4972 1726 2350 6 624 1950 465 2269 7294 6469 53 3734 1 852 1744 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE398163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU073247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU685207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB152506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY155648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000313777   ⟹   ENSP00000313309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,866 - 49,813,292 (-)Ensembl
Ensembl Acc Id: ENST00000377092   ⟹   ENSP00000366296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,920 - 49,813,273 (-)Ensembl
Ensembl Acc Id: ENST00000525130   ⟹   ENSP00000433492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,869 - 49,813,190 (-)Ensembl
Ensembl Acc Id: ENST00000525370   ⟹   ENSP00000431420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,893 - 49,813,156 (-)Ensembl
Ensembl Acc Id: ENST00000525800   ⟹   ENSP00000471319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,431 - 49,813,235 (-)Ensembl
Ensembl Acc Id: ENST00000526435   ⟹   ENSP00000470155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,812,280 - 49,813,284 (-)Ensembl
Ensembl Acc Id: ENST00000526575   ⟹   ENSP00000433164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,384 - 49,813,178 (-)Ensembl
Ensembl Acc Id: ENST00000527111   ⟹   ENSP00000469856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,812,251 - 49,813,299 (-)Ensembl
Ensembl Acc Id: ENST00000527585   ⟹   ENSP00000470863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,363 - 49,813,286 (-)Ensembl
Ensembl Acc Id: ENST00000527973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,808,619 - 49,809,865 (-)Ensembl
Ensembl Acc Id: ENST00000528043   ⟹   ENSP00000431388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,809,395 - 49,813,249 (-)Ensembl
Ensembl Acc Id: ENST00000528094   ⟹   ENSP00000435177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,890 - 49,813,175 (-)Ensembl
Ensembl Acc Id: ENST00000529302   ⟹   ENSP00000471793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,381 - 49,817,376 (-)Ensembl
Ensembl Acc Id: ENST00000529634   ⟹   ENSP00000432148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,885 - 49,808,639 (-)Ensembl
Ensembl Acc Id: ENST00000531017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,036 - 49,813,309 (-)Ensembl
Ensembl Acc Id: ENST00000533418   ⟹   ENSP00000431731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,806,890 - 49,813,249 (-)Ensembl
Ensembl Acc Id: ENST00000534008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,811,365 - 49,813,241 (-)Ensembl
Ensembl Acc Id: ENST00000534138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,808,123 - 49,808,825 (-)Ensembl
RefSeq Acc Id: NM_001171937   ⟹   NP_001165408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
GRCh371950,310,123 - 50,316,567 (-)RGD
Celera1947,179,576 - 47,186,020 (-)RGD
HuRef1946,686,436 - 46,692,879 (-)ENTREZGENE
CHM1_11950,311,942 - 50,318,409 (-)NCBI
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352262   ⟹   NP_001339191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363663   ⟹   NP_001350592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_025129   ⟹   NP_079405
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
GRCh371950,310,123 - 50,316,567 (-)RGD
Build 361955,001,961 - 55,008,280 (-)NCBI Archive
Celera1947,179,576 - 47,186,020 (-)RGD
HuRef1946,686,436 - 46,692,879 (-)ENTREZGENE
CHM1_11950,311,942 - 50,318,409 (-)NCBI
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033269
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
GRCh371950,310,123 - 50,316,567 (-)RGD
Celera1947,179,576 - 47,186,020 (-)RGD
HuRef1946,686,436 - 46,692,879 (-)ENTREZGENE
CHM1_11950,311,942 - 50,318,409 (-)NCBI
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527340   ⟹   XP_011525642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527341   ⟹   XP_011525643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527343   ⟹   XP_011525645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527346   ⟹   XP_011525648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027320   ⟹   XP_016882809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,807,378 - 49,813,292 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451729   ⟹   XP_024307497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,812,685 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451730   ⟹   XP_024307498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,812,736 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439462   ⟹   XP_047295418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
RefSeq Acc Id: XM_047439463   ⟹   XP_047295419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,812,730 (-)NCBI
RefSeq Acc Id: XM_054322219   ⟹   XP_054178194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,691 (-)NCBI
RefSeq Acc Id: XM_054322220   ⟹   XP_054178195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
RefSeq Acc Id: XM_054322221   ⟹   XP_054178196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,812,823 (-)NCBI
RefSeq Acc Id: XM_054322222   ⟹   XP_054178197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,812,874 (-)NCBI
RefSeq Acc Id: XM_054322223   ⟹   XP_054178198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
RefSeq Acc Id: XM_054322224   ⟹   XP_054178199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,516 - 52,813,430 (-)NCBI
RefSeq Acc Id: XM_054322225   ⟹   XP_054178200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
RefSeq Acc Id: XM_054322226   ⟹   XP_054178201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,812,868 (-)NCBI
RefSeq Acc Id: XM_054322227   ⟹   XP_054178202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
RefSeq Acc Id: XR_007067015
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,806,866 - 49,813,292 (-)NCBI
RefSeq Acc Id: XR_007067016
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,809,483 - 49,813,292 (-)NCBI
RefSeq Acc Id: XR_008485204
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,807,004 - 52,813,430 (-)NCBI
RefSeq Acc Id: XR_008485205
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,809,621 - 52,813,430 (-)NCBI
RefSeq Acc Id: XR_008485206
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01952,809,621 - 52,813,430 (-)NCBI
RefSeq Acc Id: XR_935863
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,809,483 - 49,813,292 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001165408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339191 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350592 (Get FASTA)   NCBI Sequence Viewer  
  NP_079405 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525642 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525643 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525645 (Get FASTA)   NCBI Sequence Viewer  
  XP_011525648 (Get FASTA)   NCBI Sequence Viewer  
  XP_016882809 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307497 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307498 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295418 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295419 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178194 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178195 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178202 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04445 (Get FASTA)   NCBI Sequence Viewer  
  AAH10092 (Get FASTA)   NCBI Sequence Viewer  
  AAH16793 (Get FASTA)   NCBI Sequence Viewer  
  BAB15454 (Get FASTA)   NCBI Sequence Viewer  
  BAG37833 (Get FASTA)   NCBI Sequence Viewer  
  BAG58119 (Get FASTA)   NCBI Sequence Viewer  
  EAW52538 (Get FASTA)   NCBI Sequence Viewer  
  EAW52539 (Get FASTA)   NCBI Sequence Viewer  
  EAW52540 (Get FASTA)   NCBI Sequence Viewer  
  EAW52541 (Get FASTA)   NCBI Sequence Viewer  
  EAW52542 (Get FASTA)   NCBI Sequence Viewer  
  EAW52543 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000313309
  ENSP00000313309.4
  ENSP00000366296.5
  ENSP00000431388.1
  ENSP00000431420.1
  ENSP00000431731
  ENSP00000431731.1
  ENSP00000432148.2
  ENSP00000433164.1
  ENSP00000433492.1
  ENSP00000435177
  ENSP00000435177.1
  ENSP00000469856.1
  ENSP00000470155.1
  ENSP00000470863.1
  ENSP00000471319.1
  ENSP00000471793.1
GenBank Protein Q9BT04 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001165408   ⟸   NM_001171937
- Peptide Label: isoform 2
- UniProtKB: Q9BT04 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_079405   ⟸   NM_025129
- Peptide Label: isoform 1
- UniProtKB: Q6PJY0 (UniProtKB/Swiss-Prot),   B5MDH0 (UniProtKB/Swiss-Prot),   B2RD86 (UniProtKB/Swiss-Prot),   Q9H613 (UniProtKB/Swiss-Prot),   Q9BT04 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011525643   ⟸   XM_011527341
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525642   ⟸   XM_011527340
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011525648   ⟸   XM_011527346
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011525645   ⟸   XM_011527343
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016882809   ⟸   XM_017027320
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024307497   ⟸   XM_024451729
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001339191   ⟸   NM_001352262
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_024307498   ⟸   XM_024451730
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001350592   ⟸   NM_001363663
- Peptide Label: isoform 4
- UniProtKB: E9PK12 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000431731   ⟸   ENST00000533418
Ensembl Acc Id: ENSP00000366296   ⟸   ENST00000377092
Ensembl Acc Id: ENSP00000313309   ⟸   ENST00000313777
Ensembl Acc Id: ENSP00000471319   ⟸   ENST00000525800
Ensembl Acc Id: ENSP00000431420   ⟸   ENST00000525370
Ensembl Acc Id: ENSP00000433492   ⟸   ENST00000525130
Ensembl Acc Id: ENSP00000433164   ⟸   ENST00000526575
Ensembl Acc Id: ENSP00000470155   ⟸   ENST00000526435
Ensembl Acc Id: ENSP00000469856   ⟸   ENST00000527111
Ensembl Acc Id: ENSP00000470863   ⟸   ENST00000527585
Ensembl Acc Id: ENSP00000431388   ⟸   ENST00000528043
Ensembl Acc Id: ENSP00000435177   ⟸   ENST00000528094
Ensembl Acc Id: ENSP00000432148   ⟸   ENST00000529634
Ensembl Acc Id: ENSP00000471793   ⟸   ENST00000529302
RefSeq Acc Id: XP_047295418   ⟸   XM_047439462
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047295419   ⟸   XM_047439463
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054178194   ⟸   XM_054322219
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178195   ⟸   XM_054322220
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178202   ⟸   XM_054322227
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054178200   ⟸   XM_054322225
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054178198   ⟸   XM_054322223
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054178197   ⟸   XM_054322222
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054178201   ⟸   XM_054322226
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054178196   ⟸   XM_054322221
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178199   ⟸   XM_054322224
- Peptide Label: isoform X4
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BT04-F1-model_v2 AlphaFold Q9BT04 1-418 view protein structure

Promoters
RGD ID:13205181
Promoter ID:EPDNEW_H26171
Type:initiation region
Name:FUZ_1
Description:fuzzy planar cell polarity protein
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
GRCh381949,813,277 - 49,813,337EPDNEW
RGD ID:6811614
Promoter ID:HG_ACW:42290
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:FUZ.IAPR07,   GLOSEE.AAPR07,   GLOSEE.BAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,003,951 - 55,004,451 (+)MPROMDB
RGD ID:6811581
Promoter ID:HG_ACW:42291
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:FUZ.LAPR07,   FUZ.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,004,261 - 55,004,761 (-)MPROMDB
RGD ID:6795383
Promoter ID:HG_KWN:30576
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377092,   NM_001171937,   NM_025129,   NR_033269,   UC002PPR.1,   UC002PPS.1,   UC002PPV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,008,201 - 55,008,712 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26219 AgrOrtholog
COSMIC FUZ COSMIC
Ensembl Genes ENSG00000010361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313777 ENTREZGENE
  ENST00000313777.9 UniProtKB/Swiss-Prot
  ENST00000377092.8 UniProtKB/TrEMBL
  ENST00000525130 ENTREZGENE
  ENST00000525130.5 UniProtKB/TrEMBL
  ENST00000525370.5 UniProtKB/TrEMBL
  ENST00000525800.5 UniProtKB/TrEMBL
  ENST00000526435.1 UniProtKB/TrEMBL
  ENST00000526575.1 UniProtKB/TrEMBL
  ENST00000527111.2 UniProtKB/TrEMBL
  ENST00000527585.5 UniProtKB/TrEMBL
  ENST00000528043.5 UniProtKB/TrEMBL
  ENST00000528094 ENTREZGENE
  ENST00000528094.5 UniProtKB/Swiss-Prot
  ENST00000529302.1 UniProtKB/TrEMBL
  ENST00000529634.2 UniProtKB/TrEMBL
  ENST00000533418 ENTREZGENE
  ENST00000533418.5 UniProtKB/TrEMBL
GTEx ENSG00000010361 GTEx
HGNC ID HGNC:26219 ENTREZGENE
Human Proteome Map FUZ Human Proteome Map
InterPro FUZ/MON1/HPS1_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUZ/MON1/HPS1_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuzzy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80199 UniProtKB/Swiss-Prot
NCBI Gene 80199 ENTREZGENE
OMIM 610622 OMIM
PANTHER PROTEIN FUZZY HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13559 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fuz_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fuz_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148782 PharmGKB
UniProt B2RD86 ENTREZGENE
  B5MDH0 ENTREZGENE
  E9PK12 ENTREZGENE, UniProtKB/TrEMBL
  E9PKJ4_HUMAN UniProtKB/TrEMBL
  E9PLA3_HUMAN UniProtKB/TrEMBL
  E9PS25_HUMAN UniProtKB/TrEMBL
  FUZZY_HUMAN UniProtKB/Swiss-Prot
  G5E9A4_HUMAN UniProtKB/TrEMBL
  M0QYI7_HUMAN UniProtKB/TrEMBL
  M0QYX9_HUMAN UniProtKB/TrEMBL
  M0QZY8_HUMAN UniProtKB/TrEMBL
  M0R0M0_HUMAN UniProtKB/TrEMBL
  M0R1D4_HUMAN UniProtKB/TrEMBL
  Q6PJY0 ENTREZGENE
  Q9BT04 ENTREZGENE
  Q9H613 ENTREZGENE
UniProt Secondary B2RD86 UniProtKB/Swiss-Prot
  B5MDH0 UniProtKB/Swiss-Prot
  Q6PJY0 UniProtKB/Swiss-Prot
  Q9H613 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 FUZ  fuzzy planar cell polarity protein  FUZ  fuzzy homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED