RUFY3 (RUN and FYVE domain containing 3) - Rat Genome Database

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Gene: RUFY3 (RUN and FYVE domain containing 3) Homo sapiens
Analyze
Symbol: RUFY3
Name: RUN and FYVE domain containing 3
RGD ID: 1604831
HGNC Page HGNC:30285
Description: Involved in positive regulation of cell migration. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA0871; rap2 interacting protein x; rap2-interacting protein x; RIPX; RUN and FYVE domain-containing protein 3; singar; SINGAR1; single axon-regulated protein; single axon-related 1; ZFYVE30
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC345571  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38470,703,767 - 70,808,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl470,704,204 - 70,808,619 (+)EnsemblGRCh38hg38GRCh38
GRCh37471,570,456 - 71,674,336 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36471,806,560 - 71,891,789 (+)NCBINCBI36Build 36hg18NCBI36
Celera468,927,653 - 69,031,337 (+)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef467,374,309 - 67,478,077 (+)NCBIHuRef
CHM1_1471,606,608 - 71,710,363 (+)NCBICHM1_1
T2T-CHM13v2.0474,046,233 - 74,151,087 (+)NCBIT2T-CHM13v2.0
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

Cellular Component
anchoring junction  (IEA)
axon  (IBA,IEA,ISS)
cell projection  (IEA)
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
dendrite  (IBA,IEA,ISS)
endomembrane system  (IEA)
filopodium  (IEA,ISS)
growth cone  (IEA,ISS)
lamellipodium  (IEA,ISS)
membrane  (IEA)
neuronal cell body  (IBA,IEA)
perikaryon  (IEA,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10048485   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16169070   PMID:16344560   PMID:17439943   PMID:20376209   PMID:21832049   PMID:21873635   PMID:24255178  
PMID:25766321   PMID:25921289   PMID:26186194   PMID:27433848   PMID:28514442   PMID:28623323   PMID:29568061   PMID:30021884   PMID:31405213   PMID:31547840   PMID:31871319   PMID:32296183  
PMID:32744243   PMID:32838362   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34510031   PMID:34709727   PMID:35018543   PMID:35563538   PMID:35844135   PMID:35914814   PMID:36215168  
PMID:36282215   PMID:36634849   PMID:37797694   PMID:37827155  


Genomics

Comparative Map Data
RUFY3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38470,703,767 - 70,808,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl470,704,204 - 70,808,619 (+)EnsemblGRCh38hg38GRCh38
GRCh37471,570,456 - 71,674,336 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36471,806,560 - 71,891,789 (+)NCBINCBI36Build 36hg18NCBI36
Celera468,927,653 - 69,031,337 (+)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef467,374,309 - 67,478,077 (+)NCBIHuRef
CHM1_1471,606,608 - 71,710,363 (+)NCBICHM1_1
T2T-CHM13v2.0474,046,233 - 74,151,087 (+)NCBIT2T-CHM13v2.0
Rufy3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39588,711,305 - 88,799,276 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl588,712,899 - 88,799,251 (+)EnsemblGRCm39 Ensembl
GRCm38588,564,505 - 88,651,417 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl588,565,040 - 88,651,392 (+)EnsemblGRCm38mm10GRCm38
MGSCv37589,012,599 - 89,071,721 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36589,658,135 - 89,717,257 (+)NCBIMGSCv36mm8
Celera586,733,200 - 86,791,895 (+)NCBICelera
Cytogenetic Map5E1NCBI
cM Map543.77NCBI
Rufy3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81419,715,593 - 19,790,530 (-)NCBIGRCr8
mRatBN7.21419,431,530 - 19,506,476 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1419,432,524 - 19,507,004 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1419,420,898 - 19,495,871 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01420,739,762 - 20,814,733 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01419,442,194 - 19,517,510 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01421,058,575 - 21,144,775 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1421,058,595 - 21,128,505 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01420,968,402 - 21,040,629 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41421,022,765 - 21,070,152 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1418,782,702 - 18,829,205 (-)NCBICelera
Cytogenetic Map14p22NCBI
Rufy3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554472,211,262 - 2,266,008 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554472,200,788 - 2,266,008 (-)NCBIChiLan1.0ChiLan1.0
RUFY3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2359,276,447 - 59,377,256 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1459,471,389 - 59,572,248 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0453,415,742 - 53,516,600 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1459,762,339 - 59,846,574 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl459,762,053 - 59,846,574 (-)Ensemblpanpan1.1panPan2
RUFY3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11360,007,041 - 60,079,198 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1360,007,056 - 60,078,617 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1359,741,413 - 59,813,528 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01360,813,185 - 60,885,065 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1360,812,369 - 60,885,059 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11360,427,868 - 60,499,800 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01359,919,548 - 59,991,670 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01361,067,046 - 61,138,949 (+)NCBIUU_Cfam_GSD_1.0
Rufy3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528515,535,254 - 15,594,049 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365983,987,320 - 4,046,187 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365983,987,287 - 4,046,019 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RUFY3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl867,495,033 - 67,582,142 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1867,494,552 - 67,582,144 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2871,403,191 - 71,490,372 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RUFY3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1719,214,051 - 19,316,840 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl719,232,434 - 19,300,550 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660843,562,094 - 3,671,841 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rufy3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248902,032,995 - 2,134,648 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248902,032,980 - 2,135,922 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RUFY3
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1 copy number loss See cases [RCV000050704] Chr4:66842408..70831557 [GRCh38]
Chr4:67708126..71697274 [GRCh37]
Chr4:67390721..71916138 [NCBI36]
Chr4:4q13.2-13.3
pathogenic
GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3 copy number gain See cases [RCV000051600] Chr4:70072741..71612174 [GRCh38]
Chr4:70938458..72477891 [GRCh37]
Chr4:70973047..72696755 [NCBI36]
Chr4:4q13.3
uncertain significance
GRCh38/hg38 4q13.3(chr4:70675977-72158855)x3 copy number gain See cases [RCV000051601] Chr4:70675977..72158855 [GRCh38]
Chr4:71541694..73024572 [GRCh37]
Chr4:71760558..73243436 [NCBI36]
Chr4:4q13.3
uncertain significance
GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3 copy number gain See cases [RCV000051602] Chr4:70727833..72040353 [GRCh38]
Chr4:71593550..72906070 [GRCh37]
Chr4:71812414..73124934 [NCBI36]
Chr4:4q13.3
uncertain significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1 copy number loss See cases [RCV000053293] Chr4:65454562..72313693 [GRCh38]
Chr4:66320280..73179410 [GRCh37]
Chr4:66002875..73398274 [NCBI36]
Chr4:4q13.1-13.3
pathogenic
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3
likely pathogenic
GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3 copy number gain See cases [RCV000143430] Chr4:70204468..71204531 [GRCh38]
Chr4:71070185..72070248 [GRCh37]
Chr4:71104774..72289112 [NCBI36]
Chr4:4q13.3
uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
NM_001037442.4(RUFY3):c.764dup (p.Gln256fs) duplication not specified [RCV000209857] Chr4:70775171..70775172 [GRCh38]
Chr4:71640888..71640889 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.3(chr4:71579922-71666101)x1 copy number loss not provided [RCV000682419] Chr4:71579922..71666101 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.1-13.3(chr4:64705501-73469716)x3 copy number gain not provided [RCV000682409] Chr4:64705501..73469716 [GRCh37]
Chr4:4q13.1-13.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q12-13.3(chr4:58332294-71587615)x1 copy number loss not provided [RCV000743602] Chr4:58332294..71587615 [GRCh37]
Chr4:4q12-13.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001037442.4(RUFY3):c.179-4G>T single nucleotide variant not provided [RCV000893456] Chr4:70762515 [GRCh38]
Chr4:71628232 [GRCh37]
Chr4:4q13.3
benign
NM_001037442.4(RUFY3):c.758+9A>G single nucleotide variant not provided [RCV000893457] Chr4:70773581 [GRCh38]
Chr4:71639298 [GRCh37]
Chr4:4q13.3
benign
NM_001037442.4(RUFY3):c.1382A>G (p.Asn461Ser) single nucleotide variant Inborn genetic diseases [RCV003270156] Chr4:70793829 [GRCh38]
Chr4:71659546 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1
pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3(chr4:70929700-72479262)x3 copy number gain not provided [RCV000849565] Chr4:70929700..72479262 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1531G>A (p.Gly511Ser) single nucleotide variant Inborn genetic diseases [RCV003291032] Chr4:70794868 [GRCh38]
Chr4:71660585 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1805G>A (p.Arg602Gln) single nucleotide variant not provided [RCV000975039] Chr4:70806601 [GRCh38]
Chr4:71672318 [GRCh37]
Chr4:4q13.3
likely benign
NM_001037442.4(RUFY3):c.429C>T (p.Ala143=) single nucleotide variant not provided [RCV000911066] Chr4:70763628 [GRCh38]
Chr4:71629345 [GRCh37]
Chr4:4q13.3
likely benign
GRCh37/hg19 4q13.3(chr4:71193683-71591539)x3 copy number gain not provided [RCV001005555] Chr4:71193683..71591539 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21
pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Partial albinism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic
GRCh37/hg19 4q13.3(chr4:71561781-72059983)x3 copy number gain not provided [RCV001827639] Chr4:71561781..72059983 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517) copy number loss not specified [RCV002053422] Chr4:61867555..74711517 [GRCh37]
Chr4:4q13.1-13.3
pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3(chr4:71643631-71975779)x3 copy number gain not provided [RCV002473536] Chr4:71643631..71975779 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001130709.2(RUFY3):c.109G>C (p.Gly37Arg) single nucleotide variant Inborn genetic diseases [RCV002748802] Chr4:70705045 [GRCh38]
Chr4:71570762 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.944G>A (p.Arg315Gln) single nucleotide variant Inborn genetic diseases [RCV002682392] Chr4:70783140 [GRCh38]
Chr4:71648857 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1067G>A (p.Arg356Gln) single nucleotide variant Inborn genetic diseases [RCV002754151] Chr4:70784875 [GRCh38]
Chr4:71650592 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1384C>T (p.Arg462Trp) single nucleotide variant Inborn genetic diseases [RCV002689689] Chr4:70793831 [GRCh38]
Chr4:71659548 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1484A>G (p.Gln495Arg) single nucleotide variant Inborn genetic diseases [RCV002784701] Chr4:70794821 [GRCh38]
Chr4:71660538 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.544G>A (p.Ala182Thr) single nucleotide variant Inborn genetic diseases [RCV002888923] Chr4:70764548 [GRCh38]
Chr4:71630265 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.202G>A (p.Glu68Lys) single nucleotide variant Inborn genetic diseases [RCV002822787] Chr4:70762542 [GRCh38]
Chr4:71628259 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1831C>G (p.Leu611Val) single nucleotide variant Inborn genetic diseases [RCV002764876] Chr4:70806627 [GRCh38]
Chr4:71672344 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1217A>G (p.His406Arg) single nucleotide variant Inborn genetic diseases [RCV002789109] Chr4:70788951 [GRCh38]
Chr4:71654668 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001130709.2(RUFY3):c.283C>T (p.Pro95Ser) single nucleotide variant Inborn genetic diseases [RCV002787338] Chr4:70705219 [GRCh38]
Chr4:71570936 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001130709.2(RUFY3):c.139C>T (p.Pro47Ser) single nucleotide variant Inborn genetic diseases [RCV002789018] Chr4:70705075 [GRCh38]
Chr4:71570792 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1183C>T (p.Arg395Trp) single nucleotide variant Inborn genetic diseases [RCV002891451] Chr4:70788917 [GRCh38]
Chr4:71654634 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.430G>A (p.Ala144Thr) single nucleotide variant Inborn genetic diseases [RCV002826491] Chr4:70763629 [GRCh38]
Chr4:71629346 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.406G>A (p.Val136Ile) single nucleotide variant Inborn genetic diseases [RCV002813212] Chr4:70763605 [GRCh38]
Chr4:71629322 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1709G>C (p.Ser570Thr) single nucleotide variant Inborn genetic diseases [RCV002921420] Chr4:70804406 [GRCh38]
Chr4:71670123 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1816C>A (p.Pro606Thr) single nucleotide variant Inborn genetic diseases [RCV003192565] Chr4:70806612 [GRCh38]
Chr4:71672329 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1507A>C (p.Asn503His) single nucleotide variant Inborn genetic diseases [RCV003203990] Chr4:70794844 [GRCh38]
Chr4:71660561 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1318A>G (p.Ile440Val) single nucleotide variant Inborn genetic diseases [RCV003192147] Chr4:70789573 [GRCh38]
Chr4:71655290 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1346A>G (p.Gln449Arg) single nucleotide variant Inborn genetic diseases [RCV003180316] Chr4:70793793 [GRCh38]
Chr4:71659510 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1343G>A (p.Arg448His) single nucleotide variant Inborn genetic diseases [RCV003191867] Chr4:70793790 [GRCh38]
Chr4:71659507 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_001037442.4(RUFY3):c.1129A>G (p.Met377Val) single nucleotide variant Inborn genetic diseases [RCV003340357] Chr4:70788863 [GRCh38]
Chr4:71654580 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 copy number loss not provided [RCV003485417] Chr4:57584845..72430996 [GRCh37]
Chr4:4q12-13.3
pathogenic
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3
pathogenic
GRCh37/hg19 4q13.3(chr4:71547866-71636209)x1 copy number loss not provided [RCV003485423] Chr4:71547866..71636209 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3 copy number gain not provided [RCV003484184] Chr4:71388666..72250823 [GRCh37]
Chr4:4q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3037
Count of miRNA genes:1121
Interacting mature miRNAs:1390
Transcripts:ENST00000226328, ENST00000381006, ENST00000417478, ENST00000502653, ENST00000503025, ENST00000503876, ENST00000504805, ENST00000507333, ENST00000512103, ENST00000512331, ENST00000513593, ENST00000513597, ENST00000514898, ENST00000515442, ENST00000515479, ENST00000536664
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH12424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,659,066 - 71,659,196UniSTSGRCh37
Build 36471,877,930 - 71,878,060RGDNCBI36
Celera469,016,067 - 69,016,197RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,462,632 - 67,462,762UniSTS
GeneMap99-GB4 RH Map4422.79UniSTS
NCBI RH Map4827.5UniSTS
RH36129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375105,749,973 - 105,750,085UniSTSGRCh37
GRCh37471,673,529 - 71,673,642UniSTSGRCh37
Build 36471,892,393 - 71,892,506RGDNCBI36
Celera469,030,530 - 69,030,643RGD
Celera5101,690,614 - 101,690,726UniSTS
Cytogenetic Map4q13.3UniSTS
HuRef5100,926,074 - 100,926,186UniSTS
HuRef467,477,270 - 67,477,383UniSTS
RH103769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,587,867 - 71,588,014UniSTSGRCh37
Build 36471,806,731 - 71,806,878RGDNCBI36
Celera468,944,869 - 68,945,016RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,391,659 - 67,391,806UniSTS
GeneMap99-GB4 RH Map4422.02UniSTS
RH45149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,657,393 - 71,657,615UniSTSGRCh37
Build 36471,876,257 - 71,876,479RGDNCBI36
Celera469,014,394 - 69,014,616RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,460,959 - 67,461,181UniSTS
GeneMap99-GB4 RH Map4414.78UniSTS
SHGC-112396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,614,380 - 71,614,656UniSTSGRCh37
Build 36471,833,244 - 71,833,520RGDNCBI36
Celera468,971,383 - 68,971,659RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,418,170 - 67,418,446UniSTS
TNG Radiation Hybrid Map439194.0UniSTS
G19859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,659,045 - 71,659,177UniSTSGRCh37
Build 36471,877,909 - 71,878,041RGDNCBI36
Celera469,016,046 - 69,016,178RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,462,611 - 67,462,743UniSTS
A002A32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,659,045 - 71,659,177UniSTSGRCh37
Build 36471,877,909 - 71,878,041RGDNCBI36
Celera469,016,046 - 69,016,178RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,462,611 - 67,462,743UniSTS
GeneMap99-GB4 RH Map4417.61UniSTS
SHGC-34593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,658,333 - 71,658,482UniSTSGRCh37
Build 36471,877,197 - 71,877,346RGDNCBI36
Celera469,015,334 - 69,015,483RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,461,899 - 67,462,048UniSTS
TNG Radiation Hybrid Map439323.0UniSTS
Stanford-G3 RH Map43959.0UniSTS
GeneMap99-GB4 RH Map4422.68UniSTS
Whitehead-RH Map4474.3UniSTS
NCBI RH Map4827.5UniSTS
GeneMap99-G3 RH Map43943.0UniSTS
D4S2538E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,659,065 - 71,659,194UniSTSGRCh37
Build 36471,877,929 - 71,878,058RGDNCBI36
Celera469,016,066 - 69,016,195RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,462,631 - 67,462,760UniSTS
TNG Radiation Hybrid Map439302.0UniSTS
GeneMap99-GB4 RH Map4416.01UniSTS
D4S2562E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37471,657,855 - 71,657,964UniSTSGRCh37
Build 36471,876,719 - 71,876,828RGDNCBI36
Celera469,014,856 - 69,014,965RGD
Cytogenetic Map4q13.3UniSTS
HuRef467,461,421 - 67,461,530UniSTS
TNG Radiation Hybrid Map439334.0UniSTS
Stanford-G3 RH Map43975.0UniSTS
NCBI RH Map4829.3UniSTS
GeneMap99-G3 RH Map43959.0UniSTS
RH11635  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q13.3UniSTS
GeneMap99-GB4 RH Map5454.18UniSTS


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 1734 1404 1379 278 772 138 3640 1057 3557 258 1294 1454 146 1097 2161 3
Low 705 1504 347 346 1095 327 716 1139 177 161 163 158 27 1 107 627 1 2
Below cutoff 82 84 1 3 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001037442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001345840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007096384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007096385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA435606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA987739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB020678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF112221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE670566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM920380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP202281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA015234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA248021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA285699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA293149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA346780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA484908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB483639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC299541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC322301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000226328   ⟹   ENSP00000226328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,722,011 - 70,793,557 (+)Ensembl
RefSeq Acc Id: ENST00000381006   ⟹   ENSP00000370394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,721,964 - 70,808,619 (+)Ensembl
RefSeq Acc Id: ENST00000417478   ⟹   ENSP00000399771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,704,801 - 70,790,082 (+)Ensembl
RefSeq Acc Id: ENST00000502653   ⟹   ENSP00000425400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,734,434 - 70,807,102 (+)Ensembl
RefSeq Acc Id: ENST00000503025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,794,673 - 70,806,567 (+)Ensembl
RefSeq Acc Id: ENST00000503876   ⟹   ENSP00000426734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,704,424 - 70,768,622 (+)Ensembl
RefSeq Acc Id: ENST00000504805   ⟹   ENSP00000421120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,784,866 - 70,800,182 (+)Ensembl
RefSeq Acc Id: ENST00000507333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,793,876 - 70,806,816 (+)Ensembl
RefSeq Acc Id: ENST00000512103   ⟹   ENSP00000420980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,788,939 - 70,806,871 (+)Ensembl
RefSeq Acc Id: ENST00000512331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,799,405 - 70,806,748 (+)Ensembl
RefSeq Acc Id: ENST00000513593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,802,983 - 70,806,794 (+)Ensembl
RefSeq Acc Id: ENST00000513597   ⟹   ENSP00000425574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,734,346 - 70,775,206 (+)Ensembl
RefSeq Acc Id: ENST00000514898   ⟹   ENSP00000426165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,704,204 - 70,705,230 (+)Ensembl
RefSeq Acc Id: ENST00000515442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,802,871 - 70,806,596 (+)Ensembl
RefSeq Acc Id: ENST00000515479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl470,799,448 - 70,806,553 (+)Ensembl
RefSeq Acc Id: NM_001037442   ⟹   NP_001032519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,808,619 (+)NCBI
GRCh37471,570,647 - 71,674,336 (+)NCBI
Build 36471,806,576 - 71,891,789 (+)NCBI Archive
Celera468,927,653 - 69,031,337 (+)RGD
HuRef467,374,309 - 67,478,077 (+)RGD
CHM1_1471,623,513 - 71,710,366 (+)NCBI
T2T-CHM13v2.0474,064,436 - 74,151,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130709   ⟹   NP_001124181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,789,897 (+)NCBI
GRCh37471,570,647 - 71,674,336 (+)NCBI
Celera468,927,653 - 69,031,337 (+)RGD
HuRef467,374,309 - 67,478,077 (+)RGD
CHM1_1471,606,608 - 71,691,641 (+)NCBI
T2T-CHM13v2.0474,047,205 - 74,132,365 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291993   ⟹   NP_001278922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,734,410 - 70,808,619 (+)NCBI
CHM1_1471,636,015 - 71,710,366 (+)NCBI
T2T-CHM13v2.0474,076,882 - 74,151,087 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001291994   ⟹   NP_001278923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,793,557 (+)NCBI
CHM1_1471,623,513 - 71,695,301 (+)NCBI
T2T-CHM13v2.0474,064,436 - 74,136,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001345840   ⟹   NP_001332769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,734,410 - 70,793,557 (+)NCBI
T2T-CHM13v2.0474,076,882 - 74,136,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014961   ⟹   NP_055776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,793,557 (+)NCBI
GRCh37471,570,647 - 71,674,336 (+)NCBI
Build 36471,806,560 - 71,878,138 (+)NCBI Archive
Celera468,927,653 - 69,031,337 (+)RGD
HuRef467,374,309 - 67,478,077 (+)RGD
CHM1_1471,623,513 - 71,695,301 (+)NCBI
T2T-CHM13v2.0474,064,436 - 74,136,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265656   ⟹   XP_005265713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,808,619 (+)NCBI
GRCh37471,570,647 - 71,674,336 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005265658   ⟹   XP_005265715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,734,410 - 70,808,619 (+)NCBI
GRCh37471,570,647 - 71,674,336 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531750   ⟹   XP_011530052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,703,767 - 70,808,619 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531751   ⟹   XP_011530053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,808,619 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531755   ⟹   XP_011530057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,793,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531756   ⟹   XP_011530058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,802,984 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449825   ⟹   XP_047305781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,808,619 (+)NCBI
RefSeq Acc Id: XM_047449826   ⟹   XP_047305782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,808,619 (+)NCBI
RefSeq Acc Id: XM_047449827   ⟹   XP_047305783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,804,418 (+)NCBI
RefSeq Acc Id: XM_047449828   ⟹   XP_047305784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,794,828 (+)NCBI
RefSeq Acc Id: XM_047449829   ⟹   XP_047305785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,794,828 (+)NCBI
RefSeq Acc Id: XM_047449830   ⟹   XP_047305786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,964 - 70,794,828 (+)NCBI
RefSeq Acc Id: XM_054349270   ⟹   XP_054205245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349271   ⟹   XP_054205246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,046,233 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349272   ⟹   XP_054205247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349273   ⟹   XP_054205248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349274   ⟹   XP_054205249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,064,436 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349275   ⟹   XP_054205250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,146,886 (+)NCBI
RefSeq Acc Id: XM_054349276   ⟹   XP_054205251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,137,296 (+)NCBI
RefSeq Acc Id: XM_054349277   ⟹   XP_054205252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,076,882 - 74,151,087 (+)NCBI
RefSeq Acc Id: XM_054349278   ⟹   XP_054205253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,136,025 (+)NCBI
RefSeq Acc Id: XM_054349279   ⟹   XP_054205254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,145,452 (+)NCBI
RefSeq Acc Id: XM_054349280   ⟹   XP_054205255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,064,436 - 74,137,296 (+)NCBI
RefSeq Acc Id: XM_054349281   ⟹   XP_054205256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,064,436 - 74,137,296 (+)NCBI
RefSeq Acc Id: XR_007096384
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,800,177 (+)NCBI
RefSeq Acc Id: XR_007096385
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,804,416 (+)NCBI
RefSeq Acc Id: XR_008486950
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,142,645 (+)NCBI
RefSeq Acc Id: XR_008486951
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,142,645 (+)NCBI
RefSeq Acc Id: XR_008486952
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0474,047,205 - 74,146,884 (+)NCBI
RefSeq Acc Id: XR_938709
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,739 - 70,800,177 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001032519 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001332769 (Get FASTA)   NCBI Sequence Viewer  
  NP_055776 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265713 (Get FASTA)   NCBI Sequence Viewer  
  XP_005265715 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530052 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530053 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530057 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530058 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305781 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305782 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305783 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305784 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305785 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305786 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054205256 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF17208 (Get FASTA)   NCBI Sequence Viewer  
  AAH51716 (Get FASTA)   NCBI Sequence Viewer  
  BAA74894 (Get FASTA)   NCBI Sequence Viewer  
  BAG50837 (Get FASTA)   NCBI Sequence Viewer  
  BAG57670 (Get FASTA)   NCBI Sequence Viewer  
  BAG59134 (Get FASTA)   NCBI Sequence Viewer  
  BAG63879 (Get FASTA)   NCBI Sequence Viewer  
  EAX05629 (Get FASTA)   NCBI Sequence Viewer  
  EAX05630 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000226328
  ENSP00000226328.4
  ENSP00000370394
  ENSP00000370394.3
  ENSP00000399771
  ENSP00000399771.2
  ENSP00000420980.1
  ENSP00000421120.2
  ENSP00000425400
  ENSP00000425400.1
  ENSP00000425574.1
  ENSP00000426165.1
  ENSP00000426734.1
GenBank Protein Q7L099 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001124181   ⟸   NM_001130709
- Peptide Label: isoform 3
- UniProtKB: Q7L099 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001032519   ⟸   NM_001037442
- Peptide Label: isoform 1
- UniProtKB: Q7L099 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_055776   ⟸   NM_014961
- Peptide Label: isoform 2
- UniProtKB: O94948 (UniProtKB/Swiss-Prot),   D9N163 (UniProtKB/Swiss-Prot),   B4DYW7 (UniProtKB/Swiss-Prot),   B3KM25 (UniProtKB/Swiss-Prot),   Q9UI00 (UniProtKB/Swiss-Prot),   Q7L099 (UniProtKB/Swiss-Prot),   B4DG59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005265713   ⟸   XM_005265656
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005265715   ⟸   XM_005265658
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001278923   ⟸   NM_001291994
- Peptide Label: isoform 5
- UniProtKB: B4DKC2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278922   ⟸   NM_001291993
- Peptide Label: isoform 4
- UniProtKB: Q7L099 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530052   ⟸   XM_011531750
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011530053   ⟸   XM_011531751
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530058   ⟸   XM_011531756
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011530057   ⟸   XM_011531755
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001332769   ⟸   NM_001345840
- Peptide Label: isoform 6
- UniProtKB: B4DG59 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000425400   ⟸   ENST00000502653
RefSeq Acc Id: ENSP00000426734   ⟸   ENST00000503876
RefSeq Acc Id: ENSP00000421120   ⟸   ENST00000504805
RefSeq Acc Id: ENSP00000399771   ⟸   ENST00000417478
RefSeq Acc Id: ENSP00000420980   ⟸   ENST00000512103
RefSeq Acc Id: ENSP00000370394   ⟸   ENST00000381006
RefSeq Acc Id: ENSP00000425574   ⟸   ENST00000513597
RefSeq Acc Id: ENSP00000426165   ⟸   ENST00000514898
RefSeq Acc Id: ENSP00000226328   ⟸   ENST00000226328
RefSeq Acc Id: XP_047305781   ⟸   XM_047449825
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047305783   ⟸   XM_047449827
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047305784   ⟸   XM_047449828
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047305782   ⟸   XM_047449826
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047305785   ⟸   XM_047449829
- Peptide Label: isoform X10
- UniProtKB: B4DKC2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047305786   ⟸   XM_047449830
- Peptide Label: isoform X11
- UniProtKB: B4DG59 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205246   ⟸   XM_054349271
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205248   ⟸   XM_054349273
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054205245   ⟸   XM_054349270
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205247   ⟸   XM_054349272
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205250   ⟸   XM_054349275
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054205254   ⟸   XM_054349279
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054205251   ⟸   XM_054349276
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054205253   ⟸   XM_054349278
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054205249   ⟸   XM_054349274
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054205255   ⟸   XM_054349280
- Peptide Label: isoform X10
- UniProtKB: B4DKC2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205256   ⟸   XM_054349281
- Peptide Label: isoform X11
- UniProtKB: B4DG59 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054205252   ⟸   XM_054349277
- Peptide Label: isoform X7
Protein Domains
RUN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7L099-F1-model_v2 AlphaFold Q7L099 1-469 view protein structure

Promoters
RGD ID:6867654
Promoter ID:EPDNEW_H6992
Type:initiation region
Name:RUFY3_1
Description:RUN and FYVE domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6994  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,704,775 - 70,704,835EPDNEW
RGD ID:6867658
Promoter ID:EPDNEW_H6994
Type:initiation region
Name:RUFY3_2
Description:RUN and FYVE domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6992  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38470,721,986 - 70,722,046EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30285 AgrOrtholog
COSMIC RUFY3 COSMIC
Ensembl Genes ENSG00000018189 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000226328 ENTREZGENE
  ENST00000226328.8 UniProtKB/Swiss-Prot
  ENST00000381006 ENTREZGENE
  ENST00000381006.8 UniProtKB/Swiss-Prot
  ENST00000417478 ENTREZGENE
  ENST00000417478.6 UniProtKB/Swiss-Prot
  ENST00000502653 ENTREZGENE
  ENST00000502653.5 UniProtKB/Swiss-Prot
  ENST00000503876.5 UniProtKB/TrEMBL
  ENST00000504805.6 UniProtKB/TrEMBL
  ENST00000512103.5 UniProtKB/TrEMBL
  ENST00000513597.5 UniProtKB/TrEMBL
  ENST00000514898.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000018189 GTEx
HGNC ID HGNC:30285 ENTREZGENE
Human Proteome Map RUFY3 Human Proteome Map
InterPro RUFY1-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Run_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Run_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN_RUFY3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22902 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 22902 ENTREZGENE
OMIM 611194 OMIM
PANTHER PROTEIN RUFY3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RUN AND FYVE DOMAIN-CONTAINING PROTEIN 2-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670961 PharmGKB
PROSITE RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RUN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF140741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KM25 ENTREZGENE
  B4DG59 ENTREZGENE, UniProtKB/TrEMBL
  B4DKC2 ENTREZGENE, UniProtKB/TrEMBL
  B4DYW7 ENTREZGENE
  D6RCQ1_HUMAN UniProtKB/TrEMBL
  D6REM9_HUMAN UniProtKB/TrEMBL
  D6RH24_HUMAN UniProtKB/TrEMBL
  D9N163 ENTREZGENE
  H0Y8G6_HUMAN UniProtKB/TrEMBL
  H0Y8I0_HUMAN UniProtKB/TrEMBL
  O94948 ENTREZGENE
  Q7L099 ENTREZGENE
  Q9UI00 ENTREZGENE
  RUFY3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KM25 UniProtKB/Swiss-Prot
  B4DYW7 UniProtKB/Swiss-Prot
  D9N163 UniProtKB/Swiss-Prot
  O94948 UniProtKB/Swiss-Prot
  Q9UI00 UniProtKB/Swiss-Prot