ZFYVE27 (zinc finger FYVE-type containing 27) - Rat Genome Database

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Gene: ZFYVE27 (zinc finger FYVE-type containing 27) Homo sapiens
Analyze
Symbol: ZFYVE27
Name: zinc finger FYVE-type containing 27
RGD ID: 1352080
HGNC Page HGNC:26559
Description: Enables identical protein binding activity and protein self-association. Involved in endoplasmic reticulum tubular network formation; neuron projection development; and vesicle-mediated transport. Located in cytosol; endoplasmic reticulum tubular network; and nucleoplasm. Is integral component of endoplasmic reticulum membrane. Implicated in hereditary spastic paraplegia 33.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protrudin; RP11-459F3.2; SPG33; zinc finger FYVE domain containing 27; zinc finger FYVE domain-containing protein 27; zinc finger, FYVE domain containing 27
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
GRCh381097,737,128 - 97,760,895 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1097,737,121 - 97,760,907 (+)EnsemblGRCh38hg38GRCh38
GRCh371099,496,885 - 99,520,652 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361099,486,875 - 99,510,642 (+)NCBINCBI36hg18NCBI36
Build 341099,486,874 - 99,510,642NCBI
Celera1093,234,147 - 93,257,930 (+)NCBI
Cytogenetic Map10q24.2NCBI
HuRef1093,122,130 - 93,145,914 (+)NCBIHuRef
CHM1_11099,778,542 - 99,802,337 (+)NCBICHM1_1
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:15164054   PMID:15489334   PMID:16385451   PMID:16712791   PMID:16826525   PMID:17082457   PMID:18459960   PMID:18606302   PMID:19289470   PMID:20301682   PMID:21832049  
PMID:21873635   PMID:21976701   PMID:22573551   PMID:23969831   PMID:24668814   PMID:26760575   PMID:26871637   PMID:28514442   PMID:29676528   PMID:30021884   PMID:31772151   PMID:32296183  
PMID:32479595   PMID:32917905   PMID:33154382   PMID:33961781   PMID:34079125   PMID:34432599   PMID:35271311  


Genomics

Comparative Map Data
ZFYVE27
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381097,737,128 - 97,760,895 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1097,737,121 - 97,760,907 (+)EnsemblGRCh38hg38GRCh38
GRCh371099,496,885 - 99,520,652 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361099,486,875 - 99,510,642 (+)NCBINCBI36hg18NCBI36
Build 341099,486,874 - 99,510,642NCBI
Celera1093,234,147 - 93,257,930 (+)NCBI
Cytogenetic Map10q24.2NCBI
HuRef1093,122,130 - 93,145,914 (+)NCBIHuRef
CHM1_11099,778,542 - 99,802,337 (+)NCBICHM1_1
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Zfyve27
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391942,159,006 - 42,183,032 (+)NCBIGRCm39mm39
GRCm39 Ensembl1942,152,390 - 42,183,029 (+)Ensembl
GRCm381942,170,567 - 42,194,593 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1942,163,951 - 42,194,590 (+)EnsemblGRCm38mm10GRCm38
MGSCv371942,245,057 - 42,269,083 (+)NCBIGRCm37mm9NCBIm37
MGSCv361942,223,932 - 42,247,904 (+)NCBImm8
Celera1942,968,481 - 42,992,507 (+)NCBICelera
Cytogenetic Map19C3NCBI
Zfyve27
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21240,979,831 - 241,003,193 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1240,979,842 - 241,003,193 (+)Ensembl
Rnor_6.01261,415,172 - 261,438,539 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1261,415,191 - 261,438,539 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01268,867,649 - 268,891,011 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41248,663,072 - 248,683,668 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11248,922,982 - 248,943,578 (-)NCBI
Celera1236,814,158 - 236,837,503 (+)NCBICelera
Cytogenetic Map1q54NCBI
Zfyve27
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555073,808,389 - 3,833,708 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555073,808,885 - 3,833,708 (+)NCBIChiLan1.0ChiLan1.0
ZFYVE27
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11097,848,174 - 97,871,958 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1097,848,176 - 97,871,958 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01094,353,624 - 94,377,430 (+)NCBIMhudiblu_PPA_v0panPan3
ZFYVE27
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12810,966,158 - 10,987,822 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2810,966,142 - 11,036,946 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2811,151,093 - 11,172,534 (+)NCBI
ROS_Cfam_1.02811,291,597 - 11,313,023 (+)NCBI
ROS_Cfam_1.0 Ensembl2811,291,576 - 11,313,020 (+)Ensembl
UMICH_Zoey_3.12810,976,573 - 10,998,000 (+)NCBI
UNSW_CanFamBas_1.02811,013,211 - 11,034,448 (+)NCBI
UU_Cfam_GSD_1.02811,153,185 - 11,174,667 (+)NCBI
Zfyve27
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721335,940,171 - 35,964,603 (-)NCBI
SpeTri2.0NW_0049366361,979,287 - 2,003,696 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZFYVE27
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14109,088,810 - 109,113,011 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114109,088,758 - 109,119,854 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214118,592,893 - 118,617,131 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ZFYVE27
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1990,900,747 - 90,925,944 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl990,901,292 - 90,925,944 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604851,801,318 - 51,825,785 (+)NCBIVero_WHO_p1.0
Zfyve27
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247379,367,756 - 9,390,243 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247379,367,817 - 9,415,089 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-64748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371099,520,518 - 99,520,649UniSTSGRCh37
Build 361099,510,508 - 99,510,639RGDNCBI36
Celera1093,257,784 - 93,257,915RGD
Cytogenetic Map10q24.2UniSTS
HuRef1093,145,768 - 93,145,899UniSTS
TNG Radiation Hybrid Map1045834.0UniSTS
STS-N20191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371099,520,243 - 99,520,364UniSTSGRCh37
Build 361099,510,233 - 99,510,354RGDNCBI36
Celera1093,257,509 - 93,257,630RGD
Cytogenetic Map10q24.2UniSTS
HuRef1093,145,493 - 93,145,614UniSTS
GeneMap99-GB4 RH Map10461.9UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8423
Count of miRNA genes:930
Interacting mature miRNAs:1120
Transcripts:ENST00000337540, ENST00000356257, ENST00000357540, ENST00000359980, ENST00000370610, ENST00000370613, ENST00000393677, ENST00000423811, ENST00000453958, ENST00000462887, ENST00000473237, ENST00000477521, ENST00000481956
Prediction methods: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.


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 2424 2412 1666 564 1810 409 3776 1272 3414 400 1446 1600 169 1 1197 2219 5 1
Low 15 579 60 60 141 56 581 925 320 19 14 13 5 7 569 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001002261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001002262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK057481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL561314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF063694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF508037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI758753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM544601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU838354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB150532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC302372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337540   ⟹   ENSP00000337993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,121 - 97,760,906 (+)Ensembl
RefSeq Acc Id: ENST00000357540   ⟹   ENSP00000350148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,121 - 97,760,906 (+)Ensembl
RefSeq Acc Id: ENST00000359980   ⟹   ENSP00000353069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,140 - 97,760,895 (+)Ensembl
RefSeq Acc Id: ENST00000370610   ⟹   ENSP00000359642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,121 - 97,760,906 (+)Ensembl
RefSeq Acc Id: ENST00000370613   ⟹   ENSP00000359646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,121 - 97,760,906 (+)Ensembl
RefSeq Acc Id: ENST00000393677   ⟹   ENSP00000377282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,123 - 97,760,907 (+)Ensembl
RefSeq Acc Id: ENST00000423811   ⟹   ENSP00000409594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,128 - 97,760,895 (+)Ensembl
RefSeq Acc Id: ENST00000462887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,183 - 97,738,845 (+)Ensembl
RefSeq Acc Id: ENST00000473237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,757,642 - 97,758,171 (+)Ensembl
RefSeq Acc Id: ENST00000477521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,757,203 - 97,759,787 (+)Ensembl
RefSeq Acc Id: ENST00000481956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,750,033 - 97,751,421 (+)Ensembl
RefSeq Acc Id: ENST00000684270   ⟹   ENSP00000506975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1097,737,128 - 97,760,895 (+)Ensembl
RefSeq Acc Id: NM_001002261   ⟹   NP_001002261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Build 361099,486,875 - 99,510,642 (+)NCBI Archive
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,779,898 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001002262   ⟹   NP_001002262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Build 361099,486,875 - 99,510,642 (+)NCBI Archive
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174119   ⟹   NP_001167590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174120   ⟹   NP_001167591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174121   ⟹   NP_001167592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001174122   ⟹   NP_001167593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385871   ⟹   NP_001372800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385875   ⟹   NP_001372804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385876   ⟹   NP_001372805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385877   ⟹   NP_001372806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385878   ⟹   NP_001372807
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385879   ⟹   NP_001372808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385880   ⟹   NP_001372809
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385881   ⟹   NP_001372810
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385882   ⟹   NP_001372811
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,758,181 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,638,333 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385883   ⟹   NP_001372812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,758,181 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,638,333 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385884   ⟹   NP_001372813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,758,181 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,638,333 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385885   ⟹   NP_001372814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385886   ⟹   NP_001372815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385887   ⟹   NP_001372816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385888   ⟹   NP_001372817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385889   ⟹   NP_001372818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385890   ⟹   NP_001372819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385891   ⟹   NP_001372820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385892   ⟹   NP_001372821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385893   ⟹   NP_001372822
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385894   ⟹   NP_001372823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385895   ⟹   NP_001372824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385896   ⟹   NP_001372825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385897   ⟹   NP_001372826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385898   ⟹   NP_001372827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385899   ⟹   NP_001372828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385900   ⟹   NP_001372829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385901   ⟹   NP_001372830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385902   ⟹   NP_001372831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385903   ⟹   NP_001372832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385904   ⟹   NP_001372833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385905   ⟹   NP_001372834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385906   ⟹   NP_001372835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385908   ⟹   NP_001372837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385911   ⟹   NP_001372840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385915   ⟹   NP_001372844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385916   ⟹   NP_001372845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385918   ⟹   NP_001372847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385919   ⟹   NP_001372848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144588   ⟹   NP_653189
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
GRCh371099,496,878 - 99,520,664 (+)RGD
GRCh371099,496,878 - 99,520,664 (+)NCBI
Build 361099,486,875 - 99,510,642 (+)NCBI Archive
Celera1093,234,147 - 93,257,930 (+)RGD
HuRef1093,122,130 - 93,145,914 (+)ENTREZGENE
CHM1_11099,778,542 - 99,802,337 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169794
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169795
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169796
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169797
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169798
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169799
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169800
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169801
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169802
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169803
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169804
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169805
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169806
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169808
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169809
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169810
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169811
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,760,895 (+)NCBI
T2T-CHM13v2.01098,617,284 - 98,641,047 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539252   ⟹   XP_011537554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,758,181 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539253   ⟹   XP_011537555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,758,181 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015644   ⟹   XP_016871133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,757,258 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015645   ⟹   XP_016871134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,757,258 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015646   ⟹   XP_016871135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,757,311 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424567   ⟹   XP_047280523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,738,544 - 97,760,895 (+)NCBI
RefSeq Acc Id: XR_945594
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381097,737,128 - 97,757,657 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001002261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001002262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167591 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167592 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372800 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372805 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372806 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372807 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372808 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372809 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372810 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372811 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372812 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372813 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372814 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372815 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372816 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372817 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372822 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372826 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372835 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372837 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372840 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372844 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372848 (Get FASTA)   NCBI Sequence Viewer  
  NP_653189 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537554 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537555 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871133 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871134 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871135 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280523 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH30621 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34305 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34306 (Get FASTA)   NCBI Sequence Viewer  
  BAB71506 (Get FASTA)   NCBI Sequence Viewer  
  BAC05200 (Get FASTA)   NCBI Sequence Viewer  
  BAC11260 (Get FASTA)   NCBI Sequence Viewer  
  BAH12306 (Get FASTA)   NCBI Sequence Viewer  
  BAH12390 (Get FASTA)   NCBI Sequence Viewer  
  BAH13112 (Get FASTA)   NCBI Sequence Viewer  
  BAH13285 (Get FASTA)   NCBI Sequence Viewer  
  CAD38913 (Get FASTA)   NCBI Sequence Viewer  
  EAW49895 (Get FASTA)   NCBI Sequence Viewer  
  EAW49896 (Get FASTA)   NCBI Sequence Viewer  
  EAW49897 (Get FASTA)   NCBI Sequence Viewer  
  EAW49898 (Get FASTA)   NCBI Sequence Viewer  
  EAW49899 (Get FASTA)   NCBI Sequence Viewer  
  EAW49900 (Get FASTA)   NCBI Sequence Viewer  
  EAW49901 (Get FASTA)   NCBI Sequence Viewer  
  EAW49902 (Get FASTA)   NCBI Sequence Viewer  
  Q5T4F4 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_653189   ⟸   NM_144588
- Peptide Label: isoform 2
- UniProtKB: Q96M08 (UniProtKB/Swiss-Prot),   Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001002262   ⟸   NM_001002262
- Peptide Label: isoform 3
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167591   ⟸   NM_001174120
- Peptide Label: isoform 5
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167590   ⟸   NM_001174119
- Peptide Label: isoform 4
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167592   ⟸   NM_001174121
- Peptide Label: isoform 6
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001167593   ⟸   NM_001174122
- Peptide Label: isoform 7
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001002261   ⟸   NM_001002261
- Peptide Label: isoform 1
- UniProtKB: Q5T4F4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537555   ⟸   XM_011539253
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011537554   ⟸   XM_011539252
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016871133   ⟸   XM_017015644
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871134   ⟸   XM_017015645
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016871135   ⟸   XM_017015646
- Peptide Label: isoform X5
- UniProtKB: B7Z6J9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000409594   ⟸   ENST00000423811
RefSeq Acc Id: ENSP00000353069   ⟸   ENST00000359980
RefSeq Acc Id: ENSP00000359642   ⟸   ENST00000370610
RefSeq Acc Id: ENSP00000359646   ⟸   ENST00000370613
RefSeq Acc Id: ENSP00000337993   ⟸   ENST00000337540
RefSeq Acc Id: ENSP00000377282   ⟸   ENST00000393677
RefSeq Acc Id: ENSP00000350148   ⟸   ENST00000357540
RefSeq Acc Id: NP_001372805   ⟸   NM_001385876
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001372800   ⟸   NM_001385871
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001372808   ⟸   NM_001385879
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001372832   ⟸   NM_001385903
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001372828   ⟸   NM_001385899
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001372831   ⟸   NM_001385902
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001372837   ⟸   NM_001385908
- Peptide Label: isoform 26
RefSeq Acc Id: NP_001372819   ⟸   NM_001385890
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001372824   ⟸   NM_001385895
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001372826   ⟸   NM_001385897
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001372817   ⟸   NM_001385888
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001372844   ⟸   NM_001385915
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001372807   ⟸   NM_001385878
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001372804   ⟸   NM_001385875
- Peptide Label: isoform 2
- UniProtKB: Q96M08 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001372806   ⟸   NM_001385877
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001372809   ⟸   NM_001385880
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001372815   ⟸   NM_001385886
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001372818   ⟸   NM_001385889
- Peptide Label: isoform 17
RefSeq Acc Id: NP_001372810   ⟸   NM_001385881
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001372833   ⟸   NM_001385904
- Peptide Label: isoform 24
RefSeq Acc Id: NP_001372829   ⟸   NM_001385900
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001372834   ⟸   NM_001385905
- Peptide Label: isoform 25
RefSeq Acc Id: NP_001372845   ⟸   NM_001385916
- Peptide Label: isoform 28
RefSeq Acc Id: NP_001372830   ⟸   NM_001385901
- Peptide Label: isoform 23
RefSeq Acc Id: NP_001372840   ⟸   NM_001385911
- Peptide Label: isoform 27
RefSeq Acc Id: NP_001372835   ⟸   NM_001385906
- Peptide Label: isoform 26
RefSeq Acc Id: NP_001372847   ⟸   NM_001385918
- Peptide Label: isoform 29
RefSeq Acc Id: NP_001372848   ⟸   NM_001385919
- Peptide Label: isoform 30
RefSeq Acc Id: NP_001372822   ⟸   NM_001385893
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001372827   ⟸   NM_001385898
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001372814   ⟸   NM_001385885
- Peptide Label: isoform 13
RefSeq Acc Id: NP_001372816   ⟸   NM_001385887
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001372820   ⟸   NM_001385891
- Peptide Label: isoform 18
RefSeq Acc Id: NP_001372823   ⟸   NM_001385894
- Peptide Label: isoform 20
RefSeq Acc Id: NP_001372821   ⟸   NM_001385892
- Peptide Label: isoform 19
RefSeq Acc Id: NP_001372825   ⟸   NM_001385896
- Peptide Label: isoform 21
RefSeq Acc Id: NP_001372811   ⟸   NM_001385882
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001372813   ⟸   NM_001385884
- Peptide Label: isoform 12
RefSeq Acc Id: NP_001372812   ⟸   NM_001385883
- Peptide Label: isoform 12
RefSeq Acc Id: ENSP00000506975   ⟸   ENST00000684270
RefSeq Acc Id: XP_047280523   ⟸   XM_047424567
- Peptide Label: isoform X6
Protein Domains
FYVE-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T4F4-F1-model_v2 AlphaFold Q5T4F4 1-411 view protein structure

Promoters
RGD ID:7218349
Promoter ID:EPDNEW_H14920
Type:initiation region
Name:ZFYVE27_1
Description:zinc finger FYVE-type containing 27
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
GRCh381097,737,128 - 97,737,188EPDNEW
RGD ID:6788409
Promoter ID:HG_KWN:10779
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337540,   NM_001002262,   NM_001174119,   NM_001174120,   NM_001174121,   NM_001174122,   NM_144588,   OTTHUMT00000049746,   OTTHUMT00000049749,   UC001KOK.1,   UC001KON.2,   UC001KOO.2,   UC001KOP.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361099,486,661 - 99,487,161 (+)MPROMDB
RGD ID:6788386
Promoter ID:HG_KWN:10780
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001002261
Position:
Human AssemblyChrPosition (strand)Source
Build 361099,487,491 - 99,488,447 (+)MPROMDB
RGD ID:6788388
Promoter ID:HG_KWN:10782
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000049743,   OTTHUMT00000049744
Position:
Human AssemblyChrPosition (strand)Source
Build 361099,506,251 - 99,507,172 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000001352]|Spastic paraplegia [RCV000471962]|Spastic tetraparesis [RCV000415084]|not provided [RCV001723530]|not specified [RCV000407569] Chr10:97749494 [GRCh38]
Chr10:99509251 [GRCh37]
Chr10:10q24.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2
pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
NM_001385875.1(ZFYVE27):c.244G>A (p.Val82Ile) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000289612]|Spastic paraplegia [RCV000467824]|not specified [RCV000118903] Chr10:97743140 [GRCh38]
Chr10:99502897 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000344472]|Spastic paraplegia [RCV000205019]|not specified [RCV000118904] Chr10:97744838 [GRCh38]
Chr10:99504595 [GRCh37]
Chr10:10q24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000290843]|Spastic paraplegia [RCV000860144]|not provided [RCV001610429]|not specified [RCV000118905] Chr10:97744873 [GRCh38]
Chr10:99504630 [GRCh37]
Chr10:10q24.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001385875.1(ZFYVE27):c.800C>T (p.Thr267Met) single nucleotide variant not specified [RCV000194065] Chr10:97750466 [GRCh38]
Chr10:99510223 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1042G>A (p.Gly348Arg) single nucleotide variant Spastic paraplegia [RCV000200396] Chr10:97753182 [GRCh38]
Chr10:99512939 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000625083]|Spastic paraplegia [RCV000204398]|not specified [RCV000593305] Chr10:97738539 [GRCh38]
Chr10:99498296 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001002261.3(ZFYVE27):c.805-2A>G single nucleotide variant not provided [RCV000234972] Chr10:97751374 [GRCh38]
Chr10:99511131 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000379322]|Spastic paraplegia [RCV000228120]|not specified [RCV000361002] Chr10:97738603 [GRCh38]
Chr10:99498360 [GRCh37]
Chr10:10q24.2
benign|likely benign
GRCh37/hg19 10q24.2(chr10:99435773-99590136)x3 copy number gain See cases [RCV000240544] Chr10:99435773..99590136 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.516C>T (p.Arg172=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000369082]|Spastic paraplegia [RCV000860703] Chr10:97748329 [GRCh38]
Chr10:99508086 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.386G>A (p.Ser129Asn) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000394403] Chr10:97744846 [GRCh38]
Chr10:99504603 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1167C>A (p.Ala389=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000268413] Chr10:97757719 [GRCh38]
Chr10:99517476 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.*40A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV000323336]|not provided [RCV001675784] Chr10:97759340 [GRCh38]
Chr10:99519097 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.79C>G (p.Pro27Ala) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000324523]|Spastic paraplegia [RCV000462621] Chr10:97738556 [GRCh38]
Chr10:99498313 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*778C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000397894] Chr10:97760078 [GRCh38]
Chr10:99519835 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*413C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000397939] Chr10:97759713 [GRCh38]
Chr10:99519470 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*1195C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000270394] Chr10:97760495 [GRCh38]
Chr10:99520252 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*367G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000349026] Chr10:97759667 [GRCh38]
Chr10:99519424 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*1074C>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV000399671] Chr10:97760374 [GRCh38]
Chr10:99520131 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.*1308A>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000271494] Chr10:97760608 [GRCh38]
Chr10:99520365 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*163C>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV000288249] Chr10:97759463 [GRCh38]
Chr10:99519220 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*1148C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000305583] Chr10:97760448 [GRCh38]
Chr10:99520205 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000350457]|Spastic paraplegia [RCV000477157] Chr10:97744884 [GRCh38]
Chr10:99504641 [GRCh37]
Chr10:10q24.2
benign|likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.32C>T (p.Pro11Leu) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000377816]|Spastic paraplegia [RCV000545447] Chr10:97738509 [GRCh38]
Chr10:99498266 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*163C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000329253] Chr10:97759463 [GRCh38]
Chr10:99519220 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.456-12C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000401383]|Spastic paraplegia [RCV002056162] Chr10:97748257 [GRCh38]
Chr10:99508014 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*1310T>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000331149] Chr10:97760610 [GRCh38]
Chr10:99520367 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.522G>A (p.Leu174=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000401660]|Spastic paraplegia [RCV000633113] Chr10:97748335 [GRCh38]
Chr10:99508092 [GRCh37]
Chr10:10q24.2
benign|likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.*1411A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV000332285] Chr10:97760711 [GRCh38]
Chr10:99520468 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.*132C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000382564] Chr10:97759432 [GRCh38]
Chr10:99519189 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.1089+3G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000358387]|Spastic paraplegia [RCV000863326] Chr10:97757314 [GRCh38]
Chr10:99517071 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*1379G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000277304] Chr10:97760679 [GRCh38]
Chr10:99520436 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*248T>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000294108]|not provided [RCV001653479] Chr10:97759548 [GRCh38]
Chr10:99519305 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*696G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000334693] Chr10:97759996 [GRCh38]
Chr10:99519753 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.876+15C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000262554] Chr10:97751477 [GRCh38]
Chr10:99511234 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*1472C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000278817] Chr10:97760772 [GRCh38]
Chr10:99520529 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1150C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000360341] Chr10:97760450 [GRCh38]
Chr10:99520207 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.508G>A (p.Ala170Thr) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000315547] Chr10:97748321 [GRCh38]
Chr10:99508078 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.*1517G>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000338557] Chr10:97760817 [GRCh38]
Chr10:99520574 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.*894G>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000299582] Chr10:97760194 [GRCh38]
Chr10:99519951 [GRCh37]
Chr10:10q24.2
benign|likely benign
NM_001385875.1(ZFYVE27):c.-1G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000318508]|Spastic paraplegia [RCV000860348] Chr10:97738477 [GRCh38]
Chr10:99498234 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV000317547] Chr10:97753155 [GRCh38]
Chr10:99512912 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*678A>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000279613] Chr10:97759978 [GRCh38]
Chr10:99519735 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.242A>G (p.Asn81Ser) single nucleotide variant Spastic paraplegia [RCV000530724] Chr10:97743138 [GRCh38]
Chr10:99502895 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.897+1G>A single nucleotide variant not provided [RCV000490176] Chr10:97752878 [GRCh38]
Chr10:99512635 [GRCh37]
Chr10:10q24.2
likely pathogenic
NM_001385875.1(ZFYVE27):c.*223G>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000383554] Chr10:97759523 [GRCh38]
Chr10:99519280 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1283C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV000366072] Chr10:97760583 [GRCh38]
Chr10:99520340 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1340G>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV000385685] Chr10:97760640 [GRCh38]
Chr10:99520397 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.914C>T (p.Ala305Val) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000322386] Chr10:97753054 [GRCh38]
Chr10:99512811 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1450G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000373361] Chr10:97760750 [GRCh38]
Chr10:99520507 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1229dup duplication Spastic paraplegia, autosomal dominant [RCV000325427] Chr10:97760524..97760525 [GRCh38]
Chr10:99520281..99520282 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.797C>T (p.Pro266Leu) single nucleotide variant Hereditary spastic paraplegia 33 [RCV000357425] Chr10:97750463 [GRCh38]
Chr10:99510220 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*945G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV000359166] Chr10:97760245 [GRCh38]
Chr10:99520002 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.263_266del (p.Asn88fs) deletion not provided [RCV000513928] Chr10:97743156..97743159 [GRCh38]
Chr10:99502913..99502916 [GRCh37]
Chr10:10q24.2
uncertain significance
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_001385875.1(ZFYVE27):c.995C>G (p.Ser332Cys) single nucleotide variant Spastic paraplegia [RCV000633013] Chr10:97753135 [GRCh38]
Chr10:99512892 [GRCh37]
Chr10:10q24.2
uncertain significance
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2
pathogenic
GRCh37/hg19 10q24.2(chr10:99476328-99552148)x1 copy number loss not provided [RCV000683187] Chr10:99476328..99552148 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys) single nucleotide variant Spastic paraplegia [RCV000678473] Chr10:97744875 [GRCh38]
Chr10:99504632 [GRCh37]
Chr10:10q24.2
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser) single nucleotide variant Spastic paraplegia [RCV000707739] Chr10:97738634 [GRCh38]
Chr10:99498391 [GRCh37]
Chr10:10q24.2
likely benign|uncertain significance
NM_001385875.1(ZFYVE27):c.557A>G (p.Tyr186Cys) single nucleotide variant Spastic paraplegia [RCV000691610] Chr10:97749479 [GRCh38]
Chr10:99509236 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.436G>A (p.Val146Met) single nucleotide variant Spastic paraplegia [RCV000688093] Chr10:97744896 [GRCh38]
Chr10:99504653 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1151A>G (p.Lys384Arg) single nucleotide variant Spastic paraplegia [RCV000694004] Chr10:97757703 [GRCh38]
Chr10:99517460 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1236A>G (p.Ter412Trp) single nucleotide variant Spastic paraplegia [RCV000696484] Chr10:97759300 [GRCh38]
Chr10:99519057 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.998G>A (p.Arg333Gln) single nucleotide variant Spastic paraplegia [RCV000696986] Chr10:97753138 [GRCh38]
Chr10:99512895 [GRCh37]
Chr10:10q24.2
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001385875.1(ZFYVE27):c.1172-92G>C single nucleotide variant not provided [RCV001611453] Chr10:97759144 [GRCh38]
Chr10:99518901 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1171+136C>A single nucleotide variant not provided [RCV001648918] Chr10:97757859 [GRCh38]
Chr10:99517616 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.727T>C (p.Phe243Leu) single nucleotide variant Spastic paraplegia [RCV000813375] Chr10:97750393 [GRCh38]
Chr10:99510150 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.238C>T (p.Leu80Phe) single nucleotide variant Spastic paraplegia [RCV002064426]|not provided [RCV000860627] Chr10:97743134 [GRCh38]
Chr10:99502891 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.804+1G>C single nucleotide variant Spastic paraplegia [RCV000812288] Chr10:97750471 [GRCh38]
Chr10:99510228 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1159A>C (p.Met387Leu) single nucleotide variant Spastic paraplegia [RCV000809774] Chr10:97757711 [GRCh38]
Chr10:99517468 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104688]|Spastic paraplegia [RCV001056370]|not provided [RCV001355642] Chr10:97738626 [GRCh38]
Chr10:99498383 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.538G>A (p.Val180Ile) single nucleotide variant Spastic paraplegia [RCV001235360] Chr10:97748351 [GRCh38]
Chr10:99508108 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1091G>A (p.Arg364Gln) single nucleotide variant Spastic paraplegia [RCV001207492] Chr10:97757643 [GRCh38]
Chr10:99517400 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.551+14C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108095] Chr10:97748378 [GRCh38]
Chr10:99508135 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1052C>T (p.Thr351Met) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108098] Chr10:97757274 [GRCh38]
Chr10:99517031 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1534G>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104882] Chr10:97760834 [GRCh38]
Chr10:99520591 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*57C>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102876] Chr10:97759357 [GRCh38]
Chr10:99519114 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*492T>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV001105941] Chr10:97759792 [GRCh38]
Chr10:99519549 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*582G>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV001105943] Chr10:97759882 [GRCh38]
Chr10:99519639 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.*679A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001105944] Chr10:97759979 [GRCh38]
Chr10:99519736 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1576A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001106049] Chr10:97760876 [GRCh38]
Chr10:99520633 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1043-67G>A single nucleotide variant not provided [RCV001609314] Chr10:97757198 [GRCh38]
Chr10:99516955 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.877-142T>C single nucleotide variant not provided [RCV001722895] Chr10:97752715 [GRCh38]
Chr10:99512472 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.665-119T>C single nucleotide variant not provided [RCV001675365] Chr10:97750212 [GRCh38]
Chr10:99509969 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.665-20G>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV002243385]|Spastic paraplegia [RCV002073150]|not provided [RCV001674157] Chr10:97750311 [GRCh38]
Chr10:99510068 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.876+210C>T single nucleotide variant not provided [RCV001639230] Chr10:97751672 [GRCh38]
Chr10:99511429 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.664+114T>G single nucleotide variant not provided [RCV001639529] Chr10:97749700 [GRCh38]
Chr10:99509457 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1090-44A>G single nucleotide variant not provided [RCV001669736] Chr10:97757598 [GRCh38]
Chr10:99517355 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1172-183C>T single nucleotide variant not provided [RCV001650414] Chr10:97759053 [GRCh38]
Chr10:99518810 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.37C>G (p.Leu13Val) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102776] Chr10:97738514 [GRCh38]
Chr10:99498271 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.*983A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108170] Chr10:97760283 [GRCh38]
Chr10:99520040 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.197+8C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104689] Chr10:97738682 [GRCh38]
Chr10:99498439 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*211T>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104803] Chr10:97759511 [GRCh38]
Chr10:99519268 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1428A>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104880] Chr10:97760728 [GRCh38]
Chr10:99520485 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.456-157T>C single nucleotide variant not provided [RCV001722890] Chr10:97748112 [GRCh38]
Chr10:99507869 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.804+104A>G single nucleotide variant not provided [RCV001722891] Chr10:97750574 [GRCh38]
Chr10:99510331 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.1172-119G>A single nucleotide variant not provided [RCV001722894] Chr10:97759117 [GRCh38]
Chr10:99518874 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.455+257TTCT[4] microsatellite not provided [RCV001677668] Chr10:97745171..97745172 [GRCh38]
Chr10:99504928..99504929 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.805-186C>T single nucleotide variant not provided [RCV001619626] Chr10:97751205 [GRCh38]
Chr10:99510962 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.804+57T>C single nucleotide variant not provided [RCV001598187] Chr10:97750527 [GRCh38]
Chr10:99510284 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.551+236A>G single nucleotide variant not provided [RCV001677260] Chr10:97748600 [GRCh38]
Chr10:99508357 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.455+109C>T single nucleotide variant not provided [RCV001669867] Chr10:97745024 [GRCh38]
Chr10:99504781 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.913G>A (p.Ala305Thr) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108097]|Spastic paraplegia [RCV001856443] Chr10:97753053 [GRCh38]
Chr10:99512810 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1211G>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102977] Chr10:97760511 [GRCh38]
Chr10:99520268 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1442A>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104881] Chr10:97760742 [GRCh38]
Chr10:99520499 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*500C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV001105942] Chr10:97759800 [GRCh38]
Chr10:99519557 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.*733A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001105945] Chr10:97760033 [GRCh38]
Chr10:99519790 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.805-5C>T single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108096] Chr10:97751386 [GRCh38]
Chr10:99511143 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.*1308A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102978] Chr10:97760608 [GRCh38]
Chr10:99520365 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.455+53A>G single nucleotide variant not provided [RCV001647685] Chr10:97744968 [GRCh38]
Chr10:99504725 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.551+287C>T single nucleotide variant not provided [RCV001681641] Chr10:97748651 [GRCh38]
Chr10:99508408 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.916C>T (p.Pro306Ser) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001195764] Chr10:97753056 [GRCh38]
Chr10:99512813 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*52C>A single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102875] Chr10:97759352 [GRCh38]
Chr10:99519109 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.917C>T (p.Pro306Leu) single nucleotide variant Spastic paraplegia [RCV001037125] Chr10:97753057 [GRCh38]
Chr10:99512814 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.219C>G (p.Ser73=) single nucleotide variant Hereditary spastic paraplegia 33 [RCV001104690] Chr10:97743115 [GRCh38]
Chr10:99502872 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.-1-10A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001102775] Chr10:97738467 [GRCh38]
Chr10:99498224 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=) single nucleotide variant Spastic paraplegia [RCV001070012] Chr10:97751402 [GRCh38]
Chr10:99511159 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.764A>G (p.Asp255Gly) single nucleotide variant Spastic paraplegia [RCV001213318] Chr10:97750430 [GRCh38]
Chr10:99510187 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1051T>C single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108171] Chr10:97760351 [GRCh38]
Chr10:99520108 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.*1099A>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001108172] Chr10:97760399 [GRCh38]
Chr10:99520156 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.551+21C>T single nucleotide variant not provided [RCV001642087] Chr10:97748385 [GRCh38]
Chr10:99508142 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met) single nucleotide variant Spastic paraplegia [RCV001397432] Chr10:97748354 [GRCh38]
Chr10:99508111 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.1064C>G (p.Ala355Gly) single nucleotide variant Spastic paraplegia [RCV001344023] Chr10:97757286 [GRCh38]
Chr10:99517043 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=) single nucleotide variant Spastic paraplegia [RCV001474091] Chr10:97757296 [GRCh38]
Chr10:99517053 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.456-220T>A single nucleotide variant not provided [RCV001684160] Chr10:97748049 [GRCh38]
Chr10:99507806 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=) single nucleotide variant Spastic paraplegia [RCV001453301] Chr10:97749561 [GRCh38]
Chr10:99509318 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=) single nucleotide variant Spastic paraplegia [RCV001470213] Chr10:97753049 [GRCh38]
Chr10:99512806 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.897+18T>G single nucleotide variant Hereditary spastic paraplegia 33 [RCV001770020] Chr10:97752895 [GRCh38]
Chr10:99512652 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.1022G>A (p.Arg341His) single nucleotide variant Spastic paraplegia [RCV001895930] Chr10:97753162 [GRCh38]
Chr10:99512919 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.680G>A (p.Arg227Lys) single nucleotide variant Spastic paraplegia [RCV001986112] Chr10:97750346 [GRCh38]
Chr10:99510103 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.53T>C (p.Met18Thr) single nucleotide variant Spastic paraplegia [RCV001917143] Chr10:97738530 [GRCh38]
Chr10:99498287 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.787G>A (p.Ala263Thr) single nucleotide variant Spastic paraplegia [RCV001980142] Chr10:97750453 [GRCh38]
Chr10:99510210 [GRCh37]
Chr10:10q24.2
uncertain significance
NM_001385875.1(ZFYVE27):c.269-16G>A single nucleotide variant Spastic paraplegia [RCV002104814] Chr10:97744713 [GRCh38]
Chr10:99504470 [GRCh37]
Chr10:10q24.2
benign
NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=) single nucleotide variant Spastic paraplegia [RCV002111210] Chr10:97750383 [GRCh38]
Chr10:99510140 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.552-13C>A single nucleotide variant Spastic paraplegia [RCV002093782] Chr10:97749461 [GRCh38]
Chr10:99509218 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=) single nucleotide variant Spastic paraplegia [RCV002101396] Chr10:97753178 [GRCh38]
Chr10:99512935 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.1172-20A>G single nucleotide variant Spastic paraplegia [RCV002104116] Chr10:97759216 [GRCh38]
Chr10:99518973 [GRCh37]
Chr10:10q24.2
likely benign
NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp) single nucleotide variant Spastic paraplegia [RCV002136377] Chr10:97744800 [GRCh38]
Chr10:99504557 [GRCh37]
Chr10:10q24.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26559 AgrOrtholog
COSMIC ZFYVE27 COSMIC
Ensembl Genes ENSG00000155256 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000337993 ENTREZGENE
  ENSP00000337993.7 UniProtKB/Swiss-Prot
  ENSP00000350148 ENTREZGENE
  ENSP00000350148.4 UniProtKB/Swiss-Prot
  ENSP00000353069 ENTREZGENE
  ENSP00000353069.3 UniProtKB/Swiss-Prot
  ENSP00000359642 ENTREZGENE
  ENSP00000359642.3 UniProtKB/Swiss-Prot
  ENSP00000359646 ENTREZGENE
  ENSP00000359646.3 UniProtKB/Swiss-Prot
  ENSP00000377282 ENTREZGENE
  ENSP00000377282.3 UniProtKB/Swiss-Prot
  ENSP00000409594 ENTREZGENE
  ENSP00000409594.2 UniProtKB/Swiss-Prot
  ENSP00000506975 ENTREZGENE
  ENSP00000506975.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337540 ENTREZGENE
  ENST00000337540.11 UniProtKB/Swiss-Prot
  ENST00000357540 ENTREZGENE
  ENST00000357540.8 UniProtKB/Swiss-Prot
  ENST00000359980 ENTREZGENE
  ENST00000359980.5 UniProtKB/Swiss-Prot
  ENST00000370610 ENTREZGENE
  ENST00000370610.7 UniProtKB/Swiss-Prot
  ENST00000370613 ENTREZGENE
  ENST00000370613.7 UniProtKB/Swiss-Prot
  ENST00000393677 ENTREZGENE
  ENST00000393677.8 UniProtKB/Swiss-Prot
  ENST00000423811 ENTREZGENE
  ENST00000423811.3 UniProtKB/Swiss-Prot
  ENST00000684270 ENTREZGENE
  ENST00000684270.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155256 GTEx
HGNC ID HGNC:26559 ENTREZGENE
Human Proteome Map ZFYVE27 Human Proteome Map
InterPro Protrudin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:118813 UniProtKB/Swiss-Prot
NCBI Gene 118813 ENTREZGENE
OMIM 610243 OMIM
  610244 OMIM
PANTHER PTHR14543 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134863310 PharmGKB
PROSITE ZF_FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FYVE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5V0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z627_HUMAN UniProtKB/TrEMBL
  B7Z6J9 ENTREZGENE, UniProtKB/TrEMBL
  Q5T4F4 ENTREZGENE
  Q96M08 ENTREZGENE
  ZFY27_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z3S0 UniProtKB/Swiss-Prot
  B7Z404 UniProtKB/Swiss-Prot
  B7Z626 UniProtKB/Swiss-Prot
  G8JLC3 UniProtKB/Swiss-Prot
  G8JLF0 UniProtKB/Swiss-Prot
  J3KP98 UniProtKB/Swiss-Prot
  Q5T4F1 UniProtKB/Swiss-Prot
  Q5T4F2 UniProtKB/Swiss-Prot
  Q5T4F3 UniProtKB/Swiss-Prot
  Q8N1K0 UniProtKB/Swiss-Prot
  Q8N6D6 UniProtKB/Swiss-Prot
  Q8NCA0 UniProtKB/Swiss-Prot
  Q8NDE4 UniProtKB/Swiss-Prot
  Q96M08 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 ZFYVE27  zinc finger FYVE-type containing 27    zinc finger, FYVE domain containing 27  Symbol and/or name change 5135510 APPROVED