SCFD1 (sec1 family domain containing 1) - Rat Genome Database

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Gene: SCFD1 (sec1 family domain containing 1) Homo sapiens
Analyze
Symbol: SCFD1
Name: sec1 family domain containing 1
RGD ID: 1350281
HGNC Page HGNC:20726
Description: Predicted to enable syntaxin binding activity. Involved in negative regulation of autophagosome assembly; regulation of protein transport; and response to toxic substance. Located in cis-Golgi network.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C14orf163; KIAA0917; RA410; sec1 family domain-containing protein 1; SLY1; SLY1 homolog; SLY1P; STXBP1L2; syntaxin-binding protein 1-like 2; vesicle transport-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh381430,622,254 - 30,735,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1430,622,291 - 30,737,694 (+)EnsemblGRCh38hg38GRCh38
GRCh371431,091,460 - 31,205,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361430,161,272 - 30,274,769 (+)NCBINCBI36Build 36hg18NCBI36
Build 341430,161,271 - 30,274,769NCBI
Celera1410,957,301 - 11,070,796 (+)NCBICelera
Cytogenetic Map14q12NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBIHuRef
CHM1_11431,090,992 - 31,204,539 (+)NCBICHM1_1
T2T-CHM13v2.01424,820,073 - 24,933,666 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cloning of a putative vesicle transport-related protein, RA410, from cultured rat astrocytes and its expression in ischemic rat brain. Matsuo N, etal., J Biol Chem 1997 Jun 27;272(26):16438-44.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10048485   PMID:10903204   PMID:11329013   PMID:11927603   PMID:12477932   PMID:12506202   PMID:12665801   PMID:14565970   PMID:14702039   PMID:15029241   PMID:15302935  
PMID:15489334   PMID:15649705   PMID:16169070   PMID:16344560   PMID:17400507   PMID:18029348   PMID:18187620   PMID:19176879   PMID:19536132   PMID:20301623   PMID:20379614   PMID:20562859  
PMID:21145461   PMID:21242315   PMID:21873635   PMID:22658674   PMID:22810586   PMID:22939629   PMID:23125841   PMID:23383273   PMID:23667531   PMID:24797263   PMID:24842878   PMID:25921289  
PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26972000   PMID:27342126   PMID:27455348   PMID:28225217   PMID:28514442   PMID:28700943   PMID:28986522  
PMID:29229926   PMID:29260601   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29615496   PMID:29845934   PMID:29955894   PMID:30463901   PMID:30833792  
PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31267315   PMID:31298480   PMID:31519766   PMID:31732153   PMID:31871319   PMID:31995728   PMID:32235678   PMID:32788342  
PMID:32814053   PMID:32877691   PMID:33060197   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34226595   PMID:34373451   PMID:34432599   PMID:34709727   PMID:34785650  
PMID:35234271   PMID:35271311   PMID:35543156   PMID:35831314   PMID:35844135  


Genomics

Comparative Map Data
SCFD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381430,622,254 - 30,735,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1430,622,291 - 30,737,694 (+)EnsemblGRCh38hg38GRCh38
GRCh371431,091,460 - 31,205,056 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361430,161,272 - 30,274,769 (+)NCBINCBI36Build 36hg18NCBI36
Build 341430,161,271 - 30,274,769NCBI
Celera1410,957,301 - 11,070,796 (+)NCBICelera
Cytogenetic Map14q12NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBIHuRef
CHM1_11431,090,992 - 31,204,539 (+)NCBICHM1_1
T2T-CHM13v2.01424,820,073 - 24,933,666 (+)NCBIT2T-CHM13v2.0
Scfd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391251,424,296 - 51,496,887 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1251,424,293 - 51,496,884 (+)EnsemblGRCm39 Ensembl
GRCm381251,377,513 - 51,450,104 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1251,377,510 - 51,450,101 (+)EnsemblGRCm38mm10GRCm38
MGSCv371252,478,567 - 52,551,083 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361252,299,200 - 52,371,716 (+)NCBIMGSCv36mm8
Celera1252,670,007 - 52,746,143 (+)NCBICelera
Cytogenetic Map12B3NCBI
Scfd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2668,795,810 - 68,874,076 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl668,795,878 - 68,874,078 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx669,231,006 - 69,310,933 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0669,537,662 - 69,617,588 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0668,977,140 - 69,057,067 (+)NCBIRnor_WKY
Rnor_6.0672,124,408 - 72,202,703 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl672,124,417 - 72,202,713 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0681,688,247 - 81,766,841 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4671,453,366 - 71,532,347 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1671,456,491 - 71,535,473 (+)NCBI
Celera667,685,656 - 67,762,975 (+)NCBICelera
Cytogenetic Map6q22NCBI
Scfd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540929,805,909 - 29,903,208 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540929,805,909 - 29,903,208 (-)NCBIChiLan1.0ChiLan1.0
SCFD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11429,602,185 - 29,709,133 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1429,602,241 - 29,709,133 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01411,401,378 - 11,508,418 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SCFD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.189,970,724 - 10,077,123 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl89,970,790 - 10,077,122 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha89,897,070 - 10,003,576 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0810,071,833 - 10,178,235 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl810,071,847 - 10,178,223 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.189,750,624 - 9,856,891 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.089,831,913 - 9,938,667 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0810,108,002 - 10,214,379 (+)NCBIUU_Cfam_GSD_1.0
Scfd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864041,904,284 - 41,995,811 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364945,410,219 - 5,501,687 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCFD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl768,712,773 - 68,851,008 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1768,694,579 - 68,851,055 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2773,405,676 - 73,475,796 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Scfd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248201,614,884 - 1,714,020 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SHGC-24139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,204,843 - 31,204,936UniSTSGRCh37
Build 361430,274,594 - 30,274,687RGDNCBI36
Celera1411,070,621 - 11,070,714RGD
Cytogenetic Map14q12UniSTS
HuRef1411,322,410 - 11,322,503UniSTS
GeneMap99-G3 RH Map14613.0UniSTS
RH46244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,118,431 - 31,118,557UniSTSGRCh37
Build 361430,188,182 - 30,188,308RGDNCBI36
Celera1410,984,207 - 10,984,333RGD
Cytogenetic Map14q12UniSTS
HuRef1411,235,982 - 11,236,108UniSTS
GeneMap99-GB4 RH Map1455.74UniSTS
NCBI RH Map14116.3UniSTS
RH44525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,196,975 - 31,197,108UniSTSGRCh37
Build 361430,266,726 - 30,266,859RGDNCBI36
Celera1411,062,753 - 11,062,886RGD
Cytogenetic Map14q12UniSTS
HuRef1411,314,542 - 11,314,675UniSTS
GeneMap99-GB4 RH Map1453.89UniSTS
NCBI RH Map14109.3UniSTS
SHGC-82246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,092,552 - 31,092,887UniSTSGRCh37
Build 361430,162,303 - 30,162,638RGDNCBI36
Celera1410,958,332 - 10,958,667RGD
Cytogenetic Map14q12UniSTS
HuRef1411,210,108 - 11,210,443UniSTS
TNG Radiation Hybrid Map145131.0UniSTS
SHGC-84212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,110,898 - 31,111,181UniSTSGRCh37
Build 361430,180,649 - 30,180,932RGDNCBI36
Celera1410,976,674 - 10,976,957RGD
Cytogenetic Map14q12UniSTS
HuRef1411,228,449 - 11,228,732UniSTS
TNG Radiation Hybrid Map145114.0UniSTS
SHGC-110964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,140,137 - 31,140,459UniSTSGRCh37
Build 361430,209,888 - 30,210,210RGDNCBI36
Celera1411,005,913 - 11,006,235RGD
Cytogenetic Map14q12UniSTS
HuRef1411,257,686 - 11,258,008UniSTS
TNG Radiation Hybrid Map145079.0UniSTS
SHGC-107171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,131,473 - 31,131,799UniSTSGRCh37
Build 361430,201,224 - 30,201,550RGDNCBI36
Celera1410,997,249 - 10,997,575RGD
Cytogenetic Map14q12UniSTS
HuRef1411,249,022 - 11,249,348UniSTS
TNG Radiation Hybrid Map145096.0UniSTS
RH44375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,197,055 - 31,197,189UniSTSGRCh37
Build 361430,266,806 - 30,266,940RGDNCBI36
Celera1411,062,833 - 11,062,967RGD
Cytogenetic Map14q12UniSTS
HuRef1411,314,622 - 11,314,756UniSTS
GeneMap99-GB4 RH Map1450.84UniSTS
NCBI RH Map14108.2UniSTS
RH68476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371431,198,683 - 31,198,868UniSTSGRCh37
Build 361430,268,434 - 30,268,619RGDNCBI36
Celera1411,064,461 - 11,064,646RGD
Cytogenetic Map14q12UniSTS
HuRef1411,316,250 - 11,316,435UniSTS
GeneMap99-GB4 RH Map1448.81UniSTS
NCBI RH Map14134.0UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4106
Count of miRNA genes:882
Interacting mature miRNAs:1030
Transcripts:ENST00000311943, ENST00000396629, ENST00000421551, ENST00000458591, ENST00000463622, ENST00000469043, ENST00000484733, ENST00000541123, ENST00000544052, ENST00000553278, ENST00000553280, ENST00000553693, ENST00000554437, ENST00000554486, ENST00000554776, ENST00000554819, ENST00000555259, ENST00000555550, ENST00000555953, ENST00000556256, ENST00000556413, ENST00000556486, ENST00000556534, ENST00000556768, ENST00000557076, ENST00000557713
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.


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 2406 2087 1569 476 1437 317 4201 1791 3065 351 1442 1607 175 1 1201 2645 6 2
Low 33 904 157 148 514 148 156 406 669 68 18 6 3 143
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001257376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF092139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF319958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG028643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG212062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU198450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX325898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA454055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD697934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA151789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB105324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311943   ⟹   ENSP00000309417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,327 - 30,735,772 (+)Ensembl
RefSeq Acc Id: ENST00000396629   ⟹   ENSP00000379870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,332 - 30,735,791 (+)Ensembl
RefSeq Acc Id: ENST00000458591   ⟹   ENSP00000390783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,735,850 (+)Ensembl
RefSeq Acc Id: ENST00000463622   ⟹   ENSP00000451298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,735,692 (+)Ensembl
RefSeq Acc Id: ENST00000469043   ⟹   ENSP00000452448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,661,939 (+)Ensembl
RefSeq Acc Id: ENST00000484733   ⟹   ENSP00000452178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,735,799 (+)Ensembl
RefSeq Acc Id: ENST00000544052   ⟹   ENSP00000443010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,735,789 (+)Ensembl
RefSeq Acc Id: ENST00000553278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,669,763 - 30,673,994 (+)Ensembl
RefSeq Acc Id: ENST00000553280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,734,494 - 30,735,794 (+)Ensembl
RefSeq Acc Id: ENST00000553693   ⟹   ENSP00000452308
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,312 - 30,735,757 (+)Ensembl
RefSeq Acc Id: ENST00000554437   ⟹   ENSP00000450546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,312 - 30,735,799 (+)Ensembl
RefSeq Acc Id: ENST00000554486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,676,126 - 30,705,885 (+)Ensembl
RefSeq Acc Id: ENST00000554776   ⟹   ENSP00000452046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,628,209 - 30,653,588 (+)Ensembl
RefSeq Acc Id: ENST00000554819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,652,338 - 30,694,858 (+)Ensembl
RefSeq Acc Id: ENST00000555259   ⟹   ENSP00000452323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,311 - 30,715,970 (+)Ensembl
RefSeq Acc Id: ENST00000555550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,721,726 - 30,722,842 (+)Ensembl
RefSeq Acc Id: ENST00000555953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,673,273 - 30,675,331 (+)Ensembl
RefSeq Acc Id: ENST00000556256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,721,702 - 30,735,662 (+)Ensembl
RefSeq Acc Id: ENST00000556413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,628,209 - 30,630,917 (+)Ensembl
RefSeq Acc Id: ENST00000556486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,715,298 - 30,735,657 (+)Ensembl
RefSeq Acc Id: ENST00000556534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,638,197 - 30,653,981 (+)Ensembl
RefSeq Acc Id: ENST00000556768   ⟹   ENSP00000451811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,735,791 (+)Ensembl
RefSeq Acc Id: ENST00000557076   ⟹   ENSP00000450755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,317 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000557713   ⟹   ENSP00000451064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,320 - 30,638,173 (+)Ensembl
RefSeq Acc Id: ENST00000676465   ⟹   ENSP00000503575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676473   ⟹   ENSP00000504489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,330 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676509   ⟹   ENSP00000504739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000676520   ⟹   ENSP00000504658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676658   ⟹   ENSP00000503347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,706 (+)Ensembl
RefSeq Acc Id: ENST00000676674   ⟹   ENSP00000502860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,322 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000676812   ⟹   ENSP00000504504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,693,187 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000676834   ⟹   ENSP00000503338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,312 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000676876   ⟹   ENSP00000503666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000676914   ⟹   ENSP00000504271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,312 - 30,735,750 (+)Ensembl
RefSeq Acc Id: ENST00000676954   ⟹   ENSP00000504250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000677027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,708,881 (+)Ensembl
RefSeq Acc Id: ENST00000677176   ⟹   ENSP00000504074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,317 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000677334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,715,809 - 30,735,704 (+)Ensembl
RefSeq Acc Id: ENST00000677340   ⟹   ENSP00000504124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,322 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000677413   ⟹   ENSP00000503070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,311 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000677445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,320 - 30,635,176 (+)Ensembl
RefSeq Acc Id: ENST00000677456   ⟹   ENSP00000503191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000677576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,720,025 - 30,735,704 (+)Ensembl
RefSeq Acc Id: ENST00000677617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,735,776 (+)Ensembl
RefSeq Acc Id: ENST00000677637   ⟹   ENSP00000504375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,317 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000677690   ⟹   ENSP00000504114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,296 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000677833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,714,649 - 30,735,770 (+)Ensembl
RefSeq Acc Id: ENST00000677974   ⟹   ENSP00000503716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,319 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000678006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,695,867 (+)Ensembl
RefSeq Acc Id: ENST00000678104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,627,890 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000678124   ⟹   ENSP00000503029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,737,694 (+)Ensembl
RefSeq Acc Id: ENST00000678185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,717,651 (+)Ensembl
RefSeq Acc Id: ENST00000678396   ⟹   ENSP00000503724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,329 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000678399   ⟹   ENSP00000504310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,685 (+)Ensembl
RefSeq Acc Id: ENST00000678402   ⟹   ENSP00000503444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000678475   ⟹   ENSP00000504339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000678516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,782 (+)Ensembl
RefSeq Acc Id: ENST00000678579   ⟹   ENSP00000503776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,339 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000678637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,710,174 (+)Ensembl
RefSeq Acc Id: ENST00000678669   ⟹   ENSP00000504126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000678716   ⟹   ENSP00000503125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,737,192 (+)Ensembl
RefSeq Acc Id: ENST00000678735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000678760   ⟹   ENSP00000504309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,291 - 30,735,809 (+)Ensembl
RefSeq Acc Id: ENST00000678802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,779 (+)Ensembl
RefSeq Acc Id: ENST00000678858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,312 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000679075   ⟹   ENSP00000504582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,329 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000679096   ⟹   ENSP00000503433
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000679102   ⟹   ENSP00000503287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,774 (+)Ensembl
RefSeq Acc Id: ENST00000679153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,796 (+)Ensembl
RefSeq Acc Id: ENST00000679165   ⟹   ENSP00000503787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,304 - 30,735,760 (+)Ensembl
RefSeq Acc Id: ENST00000679342   ⟹   ENSP00000504420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1430,622,315 - 30,735,704 (+)Ensembl
RefSeq Acc Id: NM_001257376   ⟹   NP_001244305
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,319 - 30,735,828 (+)NCBI
GRCh371431,091,460 - 31,205,034 (+)NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,091,057 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,138 - 24,933,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283031   ⟹   NP_001269960
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,735,828 (+)NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,090,992 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,073 - 24,933,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283032   ⟹   NP_001269961
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,735,828 (+)NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,090,992 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,073 - 24,933,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283033   ⟹   NP_001269962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,735,828 (+)NCBI
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,090,992 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,073 - 24,933,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016106   ⟹   NP_057190
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,319 - 30,735,850 (+)NCBI
GRCh371431,091,460 - 31,205,034 (+)NCBI
Build 361430,161,272 - 30,274,769 (+)NCBI Archive
Celera1410,957,301 - 11,070,796 (+)RGD
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,090,992 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,138 - 24,933,666 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182835   ⟹   NP_878255
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,735,828 (+)NCBI
GRCh371431,091,460 - 31,205,034 (+)NCBI
Build 361430,161,272 - 30,274,769 (+)NCBI Archive
Celera1410,957,301 - 11,070,796 (+)RGD
HuRef1411,209,016 - 11,322,601 (+)NCBI
CHM1_11431,090,992 - 31,204,539 (+)NCBI
T2T-CHM13v2.01424,820,073 - 24,933,644 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267469   ⟹   XP_005267526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,319 - 30,735,850 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021113   ⟹   XP_016876602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,676,856 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431165   ⟹   XP_047287121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,708,065 (+)NCBI
RefSeq Acc Id: XM_047431166   ⟹   XP_047287122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,708,065 (+)NCBI
RefSeq Acc Id: XR_007063993
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,715,960 (+)NCBI
RefSeq Acc Id: XR_007063994
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,694,824 (+)NCBI
RefSeq Acc Id: XR_007063995
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,694,824 (+)NCBI
RefSeq Acc Id: XR_007063996
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381430,622,254 - 30,676,856 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001244305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269960 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269961 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269962 (Get FASTA)   NCBI Sequence Viewer  
  NP_057190 (Get FASTA)   NCBI Sequence Viewer  
  NP_878255 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267526 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876602 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287121 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287122 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC17907 (Get FASTA)   NCBI Sequence Viewer  
  AAD40381 (Get FASTA)   NCBI Sequence Viewer  
  AAD48586 (Get FASTA)   NCBI Sequence Viewer  
  AAG50273 (Get FASTA)   NCBI Sequence Viewer  
  AAH17734 (Get FASTA)   NCBI Sequence Viewer  
  AAP97146 (Get FASTA)   NCBI Sequence Viewer  
  BAA74940 (Get FASTA)   NCBI Sequence Viewer  
  BAD96540 (Get FASTA)   NCBI Sequence Viewer  
  BAF83099 (Get FASTA)   NCBI Sequence Viewer  
  BAH12683 (Get FASTA)   NCBI Sequence Viewer  
  BAH12830 (Get FASTA)   NCBI Sequence Viewer  
  BAH12973 (Get FASTA)   NCBI Sequence Viewer  
  BAH13474 (Get FASTA)   NCBI Sequence Viewer  
  BAH14583 (Get FASTA)   NCBI Sequence Viewer  
  EAW65967 (Get FASTA)   NCBI Sequence Viewer  
  EAW65968 (Get FASTA)   NCBI Sequence Viewer  
  Q8WVM8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_057190   ⟸   NM_016106
- Peptide Label: isoform a
- UniProtKB: Q9Y6A8 (UniProtKB/Swiss-Prot),   Q8WVM8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_878255   ⟸   NM_182835
- Peptide Label: isoform b
- UniProtKB: Q8WVM8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244305   ⟸   NM_001257376
- Peptide Label: isoform c
- UniProtKB: Q8WVM8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005267526   ⟸   XM_005267469
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001269960   ⟸   NM_001283031
- Peptide Label: isoform d
- UniProtKB: B7Z5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269962   ⟸   NM_001283033
- Peptide Label: isoform d
- UniProtKB: B7Z5N7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269961   ⟸   NM_001283032
- Peptide Label: isoform e
- UniProtKB: Q8WVM8 (UniProtKB/Swiss-Prot),   B7Z738 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876602   ⟸   XM_017021113
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000452323   ⟸   ENST00000555259
RefSeq Acc Id: ENSP00000451298   ⟸   ENST00000463622
RefSeq Acc Id: ENSP00000451811   ⟸   ENST00000556768
RefSeq Acc Id: ENSP00000450755   ⟸   ENST00000557076
RefSeq Acc Id: ENSP00000451064   ⟸   ENST00000557713
RefSeq Acc Id: ENSP00000443010   ⟸   ENST00000544052
RefSeq Acc Id: ENSP00000452448   ⟸   ENST00000469043
RefSeq Acc Id: ENSP00000309417   ⟸   ENST00000311943
RefSeq Acc Id: ENSP00000390783   ⟸   ENST00000458591
RefSeq Acc Id: ENSP00000452178   ⟸   ENST00000484733
RefSeq Acc Id: ENSP00000452308   ⟸   ENST00000553693
RefSeq Acc Id: ENSP00000379870   ⟸   ENST00000396629
RefSeq Acc Id: ENSP00000450546   ⟸   ENST00000554437
RefSeq Acc Id: ENSP00000452046   ⟸   ENST00000554776
RefSeq Acc Id: ENSP00000504250   ⟸   ENST00000676954
RefSeq Acc Id: ENSP00000504271   ⟸   ENST00000676914
RefSeq Acc Id: ENSP00000503666   ⟸   ENST00000676876
RefSeq Acc Id: ENSP00000503338   ⟸   ENST00000676834
RefSeq Acc Id: ENSP00000504504   ⟸   ENST00000676812
RefSeq Acc Id: ENSP00000503347   ⟸   ENST00000676658
RefSeq Acc Id: ENSP00000502860   ⟸   ENST00000676674
RefSeq Acc Id: ENSP00000504658   ⟸   ENST00000676520
RefSeq Acc Id: ENSP00000504739   ⟸   ENST00000676509
RefSeq Acc Id: ENSP00000504489   ⟸   ENST00000676473
RefSeq Acc Id: ENSP00000503575   ⟸   ENST00000676465
RefSeq Acc Id: ENSP00000504074   ⟸   ENST00000677176
RefSeq Acc Id: ENSP00000503191   ⟸   ENST00000677456
RefSeq Acc Id: ENSP00000503070   ⟸   ENST00000677413
RefSeq Acc Id: ENSP00000504124   ⟸   ENST00000677340
RefSeq Acc Id: ENSP00000503716   ⟸   ENST00000677974
RefSeq Acc Id: ENSP00000504375   ⟸   ENST00000677637
RefSeq Acc Id: ENSP00000504114   ⟸   ENST00000677690
RefSeq Acc Id: ENSP00000504339   ⟸   ENST00000678475
RefSeq Acc Id: ENSP00000503444   ⟸   ENST00000678402
RefSeq Acc Id: ENSP00000503724   ⟸   ENST00000678396
RefSeq Acc Id: ENSP00000504310   ⟸   ENST00000678399
RefSeq Acc Id: ENSP00000503029   ⟸   ENST00000678124
RefSeq Acc Id: ENSP00000503125   ⟸   ENST00000678716
RefSeq Acc Id: ENSP00000504309   ⟸   ENST00000678760
RefSeq Acc Id: ENSP00000504126   ⟸   ENST00000678669
RefSeq Acc Id: ENSP00000503776   ⟸   ENST00000678579
RefSeq Acc Id: ENSP00000504420   ⟸   ENST00000679342
RefSeq Acc Id: ENSP00000503287   ⟸   ENST00000679102
RefSeq Acc Id: ENSP00000503787   ⟸   ENST00000679165
RefSeq Acc Id: ENSP00000504582   ⟸   ENST00000679075
RefSeq Acc Id: ENSP00000503433   ⟸   ENST00000679096
RefSeq Acc Id: XP_047287121   ⟸   XM_047431165
- Peptide Label: isoform X2
- UniProtKB: A0A7I2V590 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047287122   ⟸   XM_047431166
- Peptide Label: isoform X3
- UniProtKB: H0YIZ7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WVM8-F1-model_v2 AlphaFold Q8WVM8 1-642 view protein structure

Promoters
RGD ID:6791873
Promoter ID:HG_KWN:19150
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396631,   NM_016106,   NM_182835,   UC010AMD.1,   UC010AME.1,   UC010AMF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361430,160,456 - 30,161,317 (+)MPROMDB
RGD ID:6791438
Promoter ID:HG_KWN:19151
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:ENST00000396629
Position:
Human AssemblyChrPosition (strand)Source
Build 361430,161,816 - 30,162,316 (+)MPROMDB
RGD ID:7227359
Promoter ID:EPDNEW_H19424
Type:initiation region
Name:SCFD1_1
Description:sec1 family domain containing 1
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
GRCh381430,622,319 - 30,622,379EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_001257376.1(SCFD1):c.1063+2507A>G single nucleotide variant Lung cancer [RCV000098680] Chr14:30697376 [GRCh38]
Chr14:31166582 [GRCh37]
Chr14:14q12
uncertain significance
NM_001257376.1(SCFD1):c.1277+378A>G single nucleotide variant Lung cancer [RCV000098681] Chr14:30706263 [GRCh38]
Chr14:31175469 [GRCh37]
Chr14:14q12
uncertain significance
NM_001257376.1(SCFD1):c.1561-1799T>A single nucleotide variant Lung cancer [RCV000098682] Chr14:30732991 [GRCh38]
Chr14:31202197 [GRCh37]
Chr14:14q12
uncertain significance
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1 copy number loss See cases [RCV000142290] Chr14:28803988..33234266 [GRCh38]
Chr14:29273194..33703472 [GRCh37]
Chr14:28342945..32773223 [NCBI36]
Chr14:14q12-13.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12
pathogenic
GRCh37/hg19 14q12(chr14:31130371-31193211)x1 copy number loss not provided [RCV000683578] Chr14:31130371..31193211 [GRCh37]
Chr14:14q12
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1 copy number loss not provided [RCV000849105] Chr14:30448939..35017859 [GRCh37]
Chr14:14q12-13.1
pathogenic
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2
pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1
not provided
NM_016106.4(SCFD1):c.755+7C>T single nucleotide variant not provided [RCV000889026] Chr14:30650657 [GRCh38]
Chr14:31119863 [GRCh37]
Chr14:14q12
benign
NM_016106.4(SCFD1):c.1297A>G (p.Thr433Ala) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260209] Chr14:30694827 [GRCh38]
Chr14:31164033 [GRCh37]
Chr14:14q12
uncertain significance
NM_016106.4(SCFD1):c.209T>C (p.Ile70Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260556] Chr14:30630553 [GRCh38]
Chr14:31099759 [GRCh37]
Chr14:14q12
uncertain significance
GRCh37/hg19 14q12(chr14:27450705-31529481)x3 copy number gain Epilepsy [RCV001293649] Chr14:27450705..31529481 [GRCh37]
Chr14:14q12
pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20726 AgrOrtholog
COSMIC SCFD1 COSMIC
Ensembl Genes ENSG00000092108 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000309417.7 UniProtKB/TrEMBL
  ENSP00000379870 ENTREZGENE
  ENSP00000379870.2 UniProtKB/Swiss-Prot
  ENSP00000390783 ENTREZGENE
  ENSP00000390783.2 UniProtKB/Swiss-Prot
  ENSP00000443010 ENTREZGENE
  ENSP00000443010.2 UniProtKB/Swiss-Prot
  ENSP00000450546 ENTREZGENE
  ENSP00000450546.2 UniProtKB/TrEMBL
  ENSP00000450755.2 UniProtKB/TrEMBL
  ENSP00000451064.1 UniProtKB/TrEMBL
  ENSP00000451298.1 UniProtKB/TrEMBL
  ENSP00000451811.1 UniProtKB/TrEMBL
  ENSP00000452046.1 UniProtKB/TrEMBL
  ENSP00000452178.1 UniProtKB/TrEMBL
  ENSP00000452308.2 UniProtKB/TrEMBL
  ENSP00000452323.1 UniProtKB/TrEMBL
  ENSP00000452448.2 UniProtKB/TrEMBL
  ENSP00000502860 ENTREZGENE
  ENSP00000502860.1 UniProtKB/TrEMBL
  ENSP00000503029.1 UniProtKB/Swiss-Prot
  ENSP00000503070.1 UniProtKB/TrEMBL
  ENSP00000503125.1 UniProtKB/TrEMBL
  ENSP00000503191.1 UniProtKB/TrEMBL
  ENSP00000503287.1 UniProtKB/TrEMBL
  ENSP00000503338.1 UniProtKB/TrEMBL
  ENSP00000503347.1 UniProtKB/TrEMBL
  ENSP00000503433.1 UniProtKB/TrEMBL
  ENSP00000503444.1 UniProtKB/TrEMBL
  ENSP00000503575.1 UniProtKB/TrEMBL
  ENSP00000503666.1 UniProtKB/TrEMBL
  ENSP00000503716.1 UniProtKB/TrEMBL
  ENSP00000503724.1 UniProtKB/TrEMBL
  ENSP00000503776.1 UniProtKB/TrEMBL
  ENSP00000503787.1 UniProtKB/TrEMBL
  ENSP00000504074.1 UniProtKB/TrEMBL
  ENSP00000504114.1 UniProtKB/TrEMBL
  ENSP00000504124 ENTREZGENE
  ENSP00000504124.1 UniProtKB/TrEMBL
  ENSP00000504126.1 UniProtKB/TrEMBL
  ENSP00000504250.1 UniProtKB/TrEMBL
  ENSP00000504271.1 UniProtKB/TrEMBL
  ENSP00000504309 ENTREZGENE
  ENSP00000504309.1 UniProtKB/TrEMBL
  ENSP00000504310 ENTREZGENE
  ENSP00000504310.1 UniProtKB/TrEMBL
  ENSP00000504339.1 UniProtKB/TrEMBL
  ENSP00000504375.1 UniProtKB/TrEMBL
  ENSP00000504420.1 UniProtKB/TrEMBL
  ENSP00000504489.1 UniProtKB/TrEMBL
  ENSP00000504504.1 UniProtKB/TrEMBL
  ENSP00000504582.1 UniProtKB/TrEMBL
  ENSP00000504658 ENTREZGENE
  ENSP00000504658.1 UniProtKB/TrEMBL
  ENSP00000504739.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000311943.11 UniProtKB/TrEMBL
  ENST00000396629 ENTREZGENE
  ENST00000396629.6 UniProtKB/Swiss-Prot
  ENST00000458591 ENTREZGENE
  ENST00000458591.7 UniProtKB/Swiss-Prot
  ENST00000463622.6 UniProtKB/TrEMBL
  ENST00000469043.2 UniProtKB/TrEMBL
  ENST00000484733.6 UniProtKB/TrEMBL
  ENST00000544052 ENTREZGENE
  ENST00000544052.6 UniProtKB/Swiss-Prot
  ENST00000553693.6 UniProtKB/TrEMBL
  ENST00000554437 ENTREZGENE
  ENST00000554437.6 UniProtKB/TrEMBL
  ENST00000554776.5 UniProtKB/TrEMBL
  ENST00000555259.5 UniProtKB/TrEMBL
  ENST00000556768.5 UniProtKB/TrEMBL
  ENST00000557076.6 UniProtKB/TrEMBL
  ENST00000557713.5 UniProtKB/TrEMBL
  ENST00000676465.1 UniProtKB/TrEMBL
  ENST00000676473.1 UniProtKB/TrEMBL
  ENST00000676509.1 UniProtKB/TrEMBL
  ENST00000676520 ENTREZGENE
  ENST00000676520.1 UniProtKB/TrEMBL
  ENST00000676658.1 UniProtKB/TrEMBL
  ENST00000676674 ENTREZGENE
  ENST00000676674.1 UniProtKB/TrEMBL
  ENST00000676812.1 UniProtKB/TrEMBL
  ENST00000676834.1 UniProtKB/TrEMBL
  ENST00000676876.1 UniProtKB/TrEMBL
  ENST00000676914.1 UniProtKB/TrEMBL
  ENST00000676954.1 UniProtKB/TrEMBL
  ENST00000677176.1 UniProtKB/TrEMBL
  ENST00000677340 ENTREZGENE
  ENST00000677340.1 UniProtKB/TrEMBL
  ENST00000677413.1 UniProtKB/TrEMBL
  ENST00000677456.1 UniProtKB/TrEMBL
  ENST00000677637.1 UniProtKB/TrEMBL
  ENST00000677690.1 UniProtKB/TrEMBL
  ENST00000677974.1 UniProtKB/TrEMBL
  ENST00000678124.1 UniProtKB/Swiss-Prot
  ENST00000678396.1 UniProtKB/TrEMBL
  ENST00000678399 ENTREZGENE
  ENST00000678399.1 UniProtKB/TrEMBL
  ENST00000678402.1 UniProtKB/TrEMBL
  ENST00000678475.1 UniProtKB/TrEMBL
  ENST00000678579.1 UniProtKB/TrEMBL
  ENST00000678669.1 UniProtKB/TrEMBL
  ENST00000678716.1 UniProtKB/TrEMBL
  ENST00000678760 ENTREZGENE
  ENST00000678760.1 UniProtKB/TrEMBL
  ENST00000679075.1 UniProtKB/TrEMBL
  ENST00000679096.1 UniProtKB/TrEMBL
  ENST00000679102.1 UniProtKB/TrEMBL
  ENST00000679165.1 UniProtKB/TrEMBL
  ENST00000679342.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.830.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000092108 GTEx
HGNC ID HGNC:20726 ENTREZGENE
Human Proteome Map SCFD1 Human Proteome Map
InterPro Sec-1-like_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom3a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23256 UniProtKB/Swiss-Prot
NCBI Gene 23256 ENTREZGENE
OMIM 618207 OMIM
PANTHER PTHR11679 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134946073 PharmGKB
PIRSF VPS45_Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56815 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2U5_HUMAN UniProtKB/TrEMBL
  A0A7I2V320_HUMAN UniProtKB/TrEMBL
  A0A7I2V321_HUMAN UniProtKB/TrEMBL
  A0A7I2V362_HUMAN UniProtKB/TrEMBL
  A0A7I2V3B4_HUMAN UniProtKB/TrEMBL
  A0A7I2V3C9_HUMAN UniProtKB/TrEMBL
  A0A7I2V3G4_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Y3_HUMAN UniProtKB/TrEMBL
  A0A7I2V414_HUMAN UniProtKB/TrEMBL
  A0A7I2V448_HUMAN UniProtKB/TrEMBL
  A0A7I2V4B8_HUMAN UniProtKB/TrEMBL
  A0A7I2V4B9_HUMAN UniProtKB/TrEMBL
  A0A7I2V4J1_HUMAN UniProtKB/TrEMBL
  A0A7I2V4R0_HUMAN UniProtKB/TrEMBL
  A0A7I2V4U2_HUMAN UniProtKB/TrEMBL
  A0A7I2V534_HUMAN UniProtKB/TrEMBL
  A0A7I2V590 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5H5_HUMAN UniProtKB/TrEMBL
  A0A7I2V5I2_HUMAN UniProtKB/TrEMBL
  A0A7I2V5L2_HUMAN UniProtKB/TrEMBL
  A0A7I2V5R9_HUMAN UniProtKB/TrEMBL
  A0A7I2V5Z4_HUMAN UniProtKB/TrEMBL
  A0A7I2YQG3_HUMAN UniProtKB/TrEMBL
  A0A7I2YQQ1_HUMAN UniProtKB/TrEMBL
  A0A7I2YQR2_HUMAN UniProtKB/TrEMBL
  B7Z5N7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z738 ENTREZGENE, UniProtKB/TrEMBL
  G3V2M8_HUMAN UniProtKB/TrEMBL
  G3V363_HUMAN UniProtKB/TrEMBL
  G3V3K9_HUMAN UniProtKB/TrEMBL
  G3V4I1_HUMAN UniProtKB/TrEMBL
  G3V551_HUMAN UniProtKB/TrEMBL
  G3V5E2_HUMAN UniProtKB/TrEMBL
  G3V5F3_HUMAN UniProtKB/TrEMBL
  H0YIZ7 ENTREZGENE, UniProtKB/TrEMBL
  H0YJS6_HUMAN UniProtKB/TrEMBL
  H0YJY1_HUMAN UniProtKB/TrEMBL
  J3KNG4_HUMAN UniProtKB/TrEMBL
  Q8WVM8 ENTREZGENE
  Q9Y6A8 ENTREZGENE
  SCFD1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K2Z5 UniProtKB/Swiss-Prot
  B7Z4U7 UniProtKB/Swiss-Prot
  B7Z594 UniProtKB/Swiss-Prot
  O60754 UniProtKB/Swiss-Prot
  O94990 UniProtKB/Swiss-Prot
  Q7Z529 UniProtKB/Swiss-Prot
  Q9BZI3 UniProtKB/Swiss-Prot
  Q9UNL3 UniProtKB/Swiss-Prot
  Q9Y6A8 UniProtKB/Swiss-Prot