SEC13 (SEC13 homolog, nuclear pore and COPII coat complex component) - Rat Genome Database

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Gene: SEC13 (SEC13 homolog, nuclear pore and COPII coat complex component) Homo sapiens
Analyze
Symbol: SEC13
Name: SEC13 homolog, nuclear pore and COPII coat complex component
RGD ID: 1344614
HGNC Page HGNC:10697
Description: Enables identical protein binding activity. Involved in COPII-coated vesicle cargo loading; cellular response to nutrient levels; and positive regulation of TORC1 signaling. Located in kinetochore; lysosomal membrane; and nucleus. Part of COPII vesicle coat; GATOR2 complex; and nuclear pore outer ring.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D3S1231E; GATOR complex protein SEC13; GATOR2 complex protein SEC13; npp-20; SEC13 homolog; SEC13 homolog, nuclear pore and COPII coating complex component; SEC13-like 1 isoform; SEC13-like protein 1; SEC13-related protein; SEC13L1; SEC13R
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SEC13P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38310,300,931 - 10,321,112 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl310,293,131 - 10,321,112 (-)EnsemblGRCh38hg38GRCh38
GRCh37310,342,615 - 10,362,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36310,317,615 - 10,337,855 (-)NCBINCBI36Build 36hg18NCBI36
Build 34310,317,616 - 10,337,855NCBI
Celera310,278,423 - 10,298,663 (-)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef310,277,973 - 10,298,216 (-)NCBIHuRef
CHM1_1310,292,741 - 10,312,907 (-)NCBICHM1_1
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway 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. Regulation of mRNA trafficking by nuclear pore complexes. Bonnet A and Palancade B, Genes (Basel). 2014 Sep 2;5(3):767-91. doi: 10.3390/genes5030767.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7876304   PMID:7987303   PMID:8125298   PMID:8619474   PMID:9110174   PMID:10747849   PMID:10788476   PMID:11031247   PMID:11252894   PMID:12477932   PMID:12665801   PMID:14517296  
PMID:14702039   PMID:15146057   PMID:15146197   PMID:15489334   PMID:16189514   PMID:16407955   PMID:16799092   PMID:16957052   PMID:17360435   PMID:17428803   PMID:17499046   PMID:18160040  
PMID:18457437   PMID:18692470   PMID:18713835   PMID:18843296   PMID:18954468   PMID:19054391   PMID:19056867   PMID:19338310   PMID:19638414   PMID:19682973   PMID:19822759   PMID:20360068  
PMID:20676042   PMID:20696395   PMID:21145461   PMID:21873635   PMID:21988832   PMID:22331354   PMID:22586326   PMID:22863883   PMID:22939629   PMID:23455922   PMID:23602568   PMID:23723238  
PMID:23824909   PMID:24315095   PMID:24457600   PMID:24825317   PMID:24981860   PMID:24999758   PMID:25192599   PMID:25201882   PMID:25263562   PMID:25277244   PMID:25416956   PMID:25437307  
PMID:25452588   PMID:25693804   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26673895   PMID:26831064   PMID:27016207  
PMID:27194810   PMID:27342126   PMID:27565346   PMID:27609421   PMID:27684187   PMID:27716508   PMID:28192407   PMID:28199306   PMID:28199315   PMID:28240221   PMID:28298427   PMID:28366632  
PMID:28443643   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28700943   PMID:29229926   PMID:29395067   PMID:29509190   PMID:29540532   PMID:29568061   PMID:29604273   PMID:29653964  
PMID:29669786   PMID:29844126   PMID:29845934   PMID:29911972   PMID:29948782   PMID:30196744   PMID:30596474   PMID:30737378   PMID:30884312   PMID:30945288   PMID:31067453   PMID:31091453  
PMID:31343991   PMID:31527615   PMID:31586073   PMID:31594818   PMID:31796584   PMID:32203420   PMID:32296183   PMID:32707033   PMID:32780723   PMID:32814053   PMID:32814769   PMID:32877691  
PMID:32971831   PMID:33022573   PMID:33106477   PMID:33452816   PMID:33660365   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34597346   PMID:34711951   PMID:35013218   PMID:35063084  
PMID:35120648   PMID:35140242   PMID:35199941   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35563538   PMID:35676246   PMID:35831314   PMID:35831510  
PMID:35844135   PMID:35906200   PMID:35944360   PMID:36123327   PMID:36215168   PMID:36244648   PMID:36526897   PMID:36528027   PMID:36995092   PMID:37167062   PMID:37223481   PMID:37314216  
PMID:37317656   PMID:37499664   PMID:37689310   PMID:37827155   PMID:38113892   PMID:39147351  


Genomics

Comparative Map Data
SEC13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38310,300,931 - 10,321,112 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl310,293,131 - 10,321,112 (-)EnsemblGRCh38hg38GRCh38
GRCh37310,342,615 - 10,362,796 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36310,317,615 - 10,337,855 (-)NCBINCBI36Build 36hg18NCBI36
Build 34310,317,616 - 10,337,855NCBI
Celera310,278,423 - 10,298,663 (-)NCBICelera
Cytogenetic Map3p25.3NCBI
HuRef310,277,973 - 10,298,216 (-)NCBIHuRef
CHM1_1310,292,741 - 10,312,907 (-)NCBICHM1_1
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBIT2T-CHM13v2.0
Sec13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396113,705,013 - 113,717,642 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6113,705,023 - 113,717,704 (-)EnsemblGRCm39 Ensembl
GRCm386113,728,052 - 113,740,681 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6113,728,062 - 113,740,743 (-)EnsemblGRCm38mm10GRCm38
MGSCv376113,678,046 - 113,690,675 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366113,693,829 - 113,706,458 (-)NCBIMGSCv36mm8
Celera6115,553,563 - 115,566,192 (-)NCBICelera
Cytogenetic Map6E3NCBI
cM Map652.84NCBI
Sec13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84148,433,344 - 148,446,735 (-)NCBIGRCr8
mRatBN7.24146,877,739 - 146,891,130 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4146,875,524 - 146,891,173 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4152,262,389 - 152,275,663 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04148,043,260 - 148,056,534 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04146,671,488 - 146,684,762 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04145,686,186 - 145,699,577 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4145,686,193 - 145,699,577 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04208,982,585 - 208,995,976 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44149,637,058 - 149,650,449 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14149,881,901 - 149,895,290 (-)NCBI
Celera4135,432,416 - 135,445,807 (-)NCBICelera
Cytogenetic Map4q42NCBI
Sec13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555611,707,053 - 1,723,862 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555611,707,053 - 1,723,715 (-)NCBIChiLan1.0ChiLan1.0
SEC13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2210,296,920 - 10,317,714 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1310,301,680 - 10,322,438 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0310,237,101 - 10,257,694 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1310,588,644 - 10,608,754 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl310,588,644 - 10,608,754 (-)Ensemblpanpan1.1panPan2
SEC13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1208,041,485 - 8,075,078 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl208,041,544 - 8,075,076 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha208,075,852 - 8,109,440 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0208,071,236 - 8,104,785 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl208,071,294 - 8,107,266 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1207,793,128 - 7,826,671 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0208,138,831 - 8,172,389 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0208,112,442 - 8,146,040 (+)NCBIUU_Cfam_GSD_1.0
Sec13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494215,879,223 - 15,896,270 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366023,013,337 - 3,030,486 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366023,013,490 - 3,030,489 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEC13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1366,480,169 - 66,524,384 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11366,483,620 - 66,524,411 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21373,547,020 - 73,570,002 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SEC13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12246,336,909 - 46,357,435 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2246,336,829 - 46,355,723 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041120,179,801 - 120,200,334 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sec13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247315,194,961 - 5,217,821 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247315,194,852 - 5,217,821 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEC13
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]|See cases [RCV000051480] Chr3:8581778..12015238 [GRCh38]
Chr3:8623464..12056738 [GRCh37]
Chr3:8598464..12031738 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1 copy number loss See cases [RCV000051506] Chr3:10019780..12251358 [GRCh38]
Chr3:10061464..12292857 [GRCh37]
Chr3:10036464..12267857 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1 copy number loss See cases [RCV000051447] Chr3:52266..11089569 [GRCh38]
Chr3:93949..11131255 [GRCh37]
Chr3:68949..11106255 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 copy number gain See cases [RCV000135641] Chr3:8038727..11240931 [GRCh38]
Chr3:8080414..11282617 [GRCh37]
Chr3:8055414..11257617 [NCBI36]
Chr3:3p26.1-25.3		 likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1 copy number loss See cases [RCV000137433] Chr3:9394874..11690612 [GRCh38]
Chr3:9436558..11732086 [GRCh37]
Chr3:9411558..11707086 [NCBI36]
Chr3:3p25.3-25.2		 pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3 copy number gain See cases [RCV000137309] Chr3:7975734..12636917 [GRCh38]
Chr3:8017421..12678416 [GRCh37]
Chr3:7992421..12653416 [NCBI36]
Chr3:3p26.1-25.2		 likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 copy number loss See cases [RCV000138143] Chr3:32241..12681483 [GRCh38]
Chr3:73914..12722982 [GRCh37]
Chr3:48914..12697982 [NCBI36]
Chr3:3p26.3-25.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1 copy number loss See cases [RCV000137755] Chr3:9875909..10572677 [GRCh38]
Chr3:9917593..10614361 [GRCh37]
Chr3:9892593..10589361 [NCBI36]
Chr3:3p25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1 copy number loss See cases [RCV000138376] Chr3:32241..11379835 [GRCh38]
Chr3:73914..11421309 [GRCh37]
Chr3:48914..11396309 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic|likely benign
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3 copy number gain See cases [RCV000138946] Chr3:32241..13613818 [GRCh38]
Chr3:73914..13655318 [GRCh37]
Chr3:48914..13630319 [NCBI36]
Chr3:3p26.3-25.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1 copy number loss See cases [RCV000141731] Chr3:20213..11221602 [GRCh38]
Chr3:61891..11263288 [GRCh37]
Chr3:36891..11238288 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1 copy number loss See cases [RCV000143098] Chr3:10220962..11165449 [GRCh38]
Chr3:10262646..11207135 [GRCh37]
Chr3:10237646..11182135 [NCBI36]
Chr3:3p25.3		 uncertain significance
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1 copy number loss See cases [RCV000143325] Chr3:32241..10323124 [GRCh38]
Chr3:73914..10364808 [GRCh37]
Chr3:48914..10339808 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1 copy number loss See cases [RCV000143173] Chr3:32241..10631310 [GRCh38]
Chr3:73914..10672995 [GRCh37]
Chr3:48914..10647995 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1 copy number loss See cases [RCV000143706] Chr3:688897..11051142 [GRCh38]
Chr3:730581..11092828 [GRCh37]
Chr3:705581..11067828 [NCBI36]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1 copy number loss See cases [RCV000240139] Chr3:8922160..12338637 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1 copy number loss See cases [RCV000511155] Chr3:61891..12575409 [GRCh37]
Chr3:3p26.3-25.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_183352.3(SEC13):c.547G>A (p.Ala183Thr) single nucleotide variant not specified [RCV004317186] Chr3:10305596 [GRCh38]
Chr3:10347280 [GRCh37]
Chr3:3p25.3		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787461] Chr3:9453917..12015126 [GRCh37]
Chr3:3p25.3-25.2		 uncertain significance
GRCh37/hg19 3p25.3(chr3:10325353-10509129)x3 copy number gain not provided [RCV000846979] Chr3:10325353..10509129 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3 copy number gain not provided [RCV002468435] Chr3:60931..10687964 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1 copy number loss not provided [RCV002473616] Chr3:61892..11679509 [GRCh37]
Chr3:3p26.3-25.3		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NC_000003.11:g.(?_7782024)_(11078652_?)dup duplication Atrioventricular septal defect, susceptibility to, 2 [RCV001875165] Chr3:7782024..11078652 [GRCh37]
Chr3:3p26.1-25.3		 uncertain significance
NC_000003.11:g.(?_10094051)_(11078652_?)del deletion Myoclonic-astatic epilepsy [RCV003444370] Chr3:10094051..11078652 [GRCh37]
Chr3:3p25.3		 pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1 copy number loss not provided [RCV002472495] Chr3:10024917..11917048 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_183352.3(SEC13):c.895T>G (p.Cys299Gly) single nucleotide variant not specified [RCV004166814] Chr3:10301335 [GRCh38]
Chr3:10343019 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.461A>G (p.Asn154Ser) single nucleotide variant not specified [RCV004074558] Chr3:10305682 [GRCh38]
Chr3:10347366 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.80G>A (p.Arg27His) single nucleotide variant not specified [RCV004201710] Chr3:10315405 [GRCh38]
Chr3:10357089 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.145C>T (p.Leu49Phe) single nucleotide variant not specified [RCV004113925] Chr3:10315340 [GRCh38]
Chr3:10357024 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.254T>C (p.Ile85Thr) single nucleotide variant not specified [RCV004154996] Chr3:10312641 [GRCh38]
Chr3:10354325 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.631C>T (p.His211Tyr) single nucleotide variant not specified [RCV004132831] Chr3:10305110 [GRCh38]
Chr3:10346794 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.716G>C (p.Arg239Pro) single nucleotide variant not specified [RCV004192002] Chr3:10304165 [GRCh38]
Chr3:10345849 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.884G>A (p.Gly295Glu) single nucleotide variant not specified [RCV004200717] Chr3:10301346 [GRCh38]
Chr3:10343030 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.689C>G (p.Thr230Ser) single nucleotide variant not specified [RCV004169194] Chr3:10305052 [GRCh38]
Chr3:10346736 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.928G>A (p.Val310Ile) single nucleotide variant not specified [RCV004231349] Chr3:10301302 [GRCh38]
Chr3:10342986 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.694G>A (p.Ala232Thr) single nucleotide variant not specified [RCV004213286] Chr3:10305047 [GRCh38]
Chr3:10346731 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.335C>T (p.Ala112Val) single nucleotide variant not specified [RCV004074953] Chr3:10312080 [GRCh38]
Chr3:10353764 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.307G>A (p.Asp103Asn) single nucleotide variant not specified [RCV004128864] Chr3:10312588 [GRCh38]
Chr3:10354272 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.755C>T (p.Thr252Met) single nucleotide variant not specified [RCV004158807] Chr3:10304126 [GRCh38]
Chr3:10345810 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.907G>A (p.Val303Ile) single nucleotide variant not specified [RCV004229151] Chr3:10301323 [GRCh38]
Chr3:10343007 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.55G>A (p.Ala19Thr) single nucleotide variant not specified [RCV004082892] Chr3:10315430 [GRCh38]
Chr3:10357114 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.539A>G (p.Lys180Arg) single nucleotide variant not specified [RCV004189258] Chr3:10305604 [GRCh38]
Chr3:10347288 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.113A>G (p.Lys38Arg) single nucleotide variant not specified [RCV004075178] Chr3:10315372 [GRCh38]
Chr3:10357056 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.723C>G (p.Phe241Leu) single nucleotide variant not specified [RCV004103403] Chr3:10304158 [GRCh38]
Chr3:10345842 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.775C>G (p.His259Asp) single nucleotide variant not specified [RCV004190043] Chr3:10304106 [GRCh38]
Chr3:10345790 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.568C>T (p.Leu190Phe) single nucleotide variant not specified [RCV004084425] Chr3:10305575 [GRCh38]
Chr3:10347259 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.74G>C (p.Gly25Ala) single nucleotide variant not specified [RCV004274111] Chr3:10315411 [GRCh38]
Chr3:10357095 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.647G>A (p.Arg216Gln) single nucleotide variant not specified [RCV004258129] Chr3:10305094 [GRCh38]
Chr3:10346778 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.527C>A (p.Pro176His) single nucleotide variant not specified [RCV004278861] Chr3:10305616 [GRCh38]
Chr3:10347300 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3-25.2(chr3:10167260-12533766)x1 copy number loss See cases [RCV003329496] Chr3:10167260..12533766 [GRCh37]
Chr3:3p25.3-25.2		 pathogenic
NM_183352.3(SEC13):c.481G>A (p.Ala161Thr) single nucleotide variant not specified [RCV004354579] Chr3:10305662 [GRCh38]
Chr3:10347346 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_183352.3(SEC13):c.927C>T (p.Ser309=) single nucleotide variant not provided [RCV003433427] Chr3:10301303 [GRCh38]
Chr3:10342987 [GRCh37]
Chr3:3p25.3		 likely benign
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1 copy number loss not specified [RCV003986402] Chr3:6306331..11468530 [GRCh37]
Chr3:3p26.1-25.3		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_183352.3(SEC13):c.250A>G (p.Ile84Val) single nucleotide variant not specified [RCV004447456] Chr3:10312645 [GRCh38]
Chr3:10354329 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.536T>G (p.Ile179Ser) single nucleotide variant not specified [RCV004447458] Chr3:10305607 [GRCh38]
Chr3:10347291 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.230G>C (p.Cys77Ser) single nucleotide variant not specified [RCV004447455] Chr3:10312665 [GRCh38]
Chr3:10354349 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.877G>T (p.Val293Phe) single nucleotide variant not specified [RCV004447462] Chr3:10301353 [GRCh38]
Chr3:10343037 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.633C>A (p.His211Gln) single nucleotide variant not specified [RCV004447459] Chr3:10305108 [GRCh38]
Chr3:10346792 [GRCh37]
Chr3:3p25.3		 uncertain significance
NM_183352.3(SEC13):c.794T>C (p.Val265Ala) single nucleotide variant not specified [RCV004447460] Chr3:10304087 [GRCh38]
Chr3:10345771 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NC_000003.11:g.(?_9703931)_(11078652_?)del deletion Myoclonic-atonic epilepsy [RCV004582222] Chr3:9703931..11078652 [GRCh37]
Chr3:3p25.3		 pathogenic
NC_000003.11:g.(?_9470623)_(11078652_?)dup duplication not provided [RCV004582249] Chr3:9470623..11078652 [GRCh37]
Chr3:3p25.3		 uncertain significance
GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1 copy number loss Myoclonic-atonic epilepsy [RCV004767736] Chr3:9974258..11078781 [GRCh37]
Chr3:3p25.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3528
Count of miRNA genes:1043
Interacting mature miRNAs:1279
Transcripts:ENST00000337354, ENST00000350697, ENST00000383801, ENST00000397099, ENST00000397101, ENST00000397102, ENST00000397105, ENST00000397109, ENST00000397117, ENST00000428626, ENST00000431352, ENST00000432213, ENST00000445064, ENST00000476597, ENST00000477547, ENST00000479868, ENST00000482647, ENST00000490283, ENST00000492602
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human

Markers in Region
SHGC-2675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371811,913,905 - 11,914,062UniSTSGRCh37
GRCh37310,342,636 - 10,342,784UniSTSGRCh37
Build 36310,317,636 - 10,317,784RGDNCBI36
Celera1811,794,825 - 11,794,982UniSTS
Celera310,278,444 - 10,278,592RGD
Cytogenetic Map3p25-p24UniSTS
HuRef1811,868,392 - 11,868,549UniSTS
HuRef310,277,996 - 10,278,144UniSTS
SHGC-2687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371811,913,905 - 11,914,063UniSTSGRCh37
GRCh37310,342,635 - 10,342,784UniSTSGRCh37
Build 36310,317,635 - 10,317,784RGDNCBI36
Celera1811,794,825 - 11,794,983UniSTS
Celera310,278,443 - 10,278,592RGD
Cytogenetic Map3p25-p24UniSTS
HuRef1811,868,392 - 11,868,550UniSTS
HuRef310,277,995 - 10,278,144UniSTS
D3S1350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,363,257 - 10,363,490UniSTSGRCh37
Build 36310,338,257 - 10,338,490RGDNCBI36
Celera310,299,062 - 10,299,295RGD
Cytogenetic Map3p25-p24UniSTS
HuRef310,298,601 - 10,298,830UniSTS
D3S2866E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,342,652 - 10,342,753UniSTSGRCh37
Build 36310,317,652 - 10,317,753RGDNCBI36
Celera310,278,460 - 10,278,561RGD
Cytogenetic Map3p25-p24UniSTS
HuRef310,278,012 - 10,278,113UniSTS
GDB:186267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371811,913,865 - 11,914,071UniSTSGRCh37
GRCh37310,342,628 - 10,342,824UniSTSGRCh37
Build 36310,317,628 - 10,317,824RGDNCBI36
Celera1811,794,785 - 11,794,991UniSTS
Celera310,278,436 - 10,278,632RGD
Cytogenetic Map3p25-p24UniSTS
HuRef1811,868,352 - 11,868,558UniSTS
HuRef310,277,988 - 10,278,184UniSTS
SEC13L1_8614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,342,449 - 10,343,016UniSTSGRCh37
Build 36310,317,449 - 10,318,016RGDNCBI36
Celera310,278,257 - 10,278,824RGD
HuRef310,277,809 - 10,278,376UniSTS
T15986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37310,342,730 - 10,342,888UniSTSGRCh37
Build 36310,317,730 - 10,317,888RGDNCBI36
Celera310,278,538 - 10,278,696RGD
Cytogenetic Map3p25-p24UniSTS
HuRef310,278,090 - 10,278,248UniSTS
Whitehead-YAC Contig Map3 UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005265379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA682381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE621430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN344033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB564012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF036494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU789555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L09260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337354   ⟹   ENSP00000336566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,931 - 10,321,082 (-)Ensembl
Ensembl Acc Id: ENST00000350697   ⟹   ENSP00000312122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,931 - 10,321,112 (-)Ensembl
Ensembl Acc Id: ENST00000383801   ⟹   ENSP00000373312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,961 - 10,321,084 (-)Ensembl
Ensembl Acc Id: ENST00000397099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,315,142 - 10,321,086 (-)Ensembl
Ensembl Acc Id: ENST00000397101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,314,953 - 10,321,112 (-)Ensembl
Ensembl Acc Id: ENST00000397102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,313,080 - 10,321,112 (-)Ensembl
Ensembl Acc Id: ENST00000397105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,311,573 - 10,321,093 (-)Ensembl
Ensembl Acc Id: ENST00000397109   ⟹   ENSP00000380298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,931 - 10,321,041 (-)Ensembl
Ensembl Acc Id: ENST00000397117   ⟹   ENSP00000380306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,950 - 10,321,061 (-)Ensembl
Ensembl Acc Id: ENST00000428626   ⟹   ENSP00000400260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,318,068 - 10,321,056 (-)Ensembl
Ensembl Acc Id: ENST00000431352   ⟹   ENSP00000401368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,312,646 - 10,321,060 (-)Ensembl
Ensembl Acc Id: ENST00000432213   ⟹   ENSP00000404141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,319,206 - 10,321,093 (-)Ensembl
Ensembl Acc Id: ENST00000445064   ⟹   ENSP00000398623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,318,070 - 10,321,058 (-)Ensembl
Ensembl Acc Id: ENST00000476597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,304,035 - 10,305,910 (-)Ensembl
Ensembl Acc Id: ENST00000477547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,303,551 - 10,318,080 (-)Ensembl
Ensembl Acc Id: ENST00000479868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,300,933 - 10,313,971 (-)Ensembl
Ensembl Acc Id: ENST00000482647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,311,573 - 10,312,834 (-)Ensembl
Ensembl Acc Id: ENST00000490283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,304,111 - 10,305,710 (-)Ensembl
Ensembl Acc Id: ENST00000492602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl310,293,131 - 10,305,072 (-)Ensembl
RefSeq Acc Id: NM_001136026   ⟹   NP_001129498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
HuRef310,277,973 - 10,298,216 (-)NCBI
CHM1_1310,292,741 - 10,312,907 (-)NCBI
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136232   ⟹   NP_001129704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,041 (-)NCBI
GRCh37310,342,613 - 10,362,872 (-)NCBI
HuRef310,277,973 - 10,298,216 (-)NCBI
CHM1_1310,292,741 - 10,312,760 (-)NCBI
T2T-CHM13v2.0310,294,231 - 10,314,350 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278946   ⟹   NP_001265875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,311,576 - 10,321,112 (-)NCBI
HuRef310,277,973 - 10,298,216 (-)NCBI
CHM1_1310,303,372 - 10,312,907 (-)NCBI
T2T-CHM13v2.0310,304,871 - 10,314,421 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030673   ⟹   NP_109598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
HuRef310,277,973 - 10,298,216 (-)NCBI
CHM1_1310,292,741 - 10,312,907 (-)NCBI
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183352   ⟹   NP_899195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
GRCh37310,342,613 - 10,362,872 (-)NCBI
Build 36310,317,615 - 10,337,855 (-)NCBI Archive
HuRef310,277,973 - 10,298,216 (-)NCBI
CHM1_1310,292,741 - 10,312,907 (-)NCBI
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007020   ⟹   XP_016862509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007021   ⟹   XP_016862510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448687   ⟹   XP_047304643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448688   ⟹   XP_047304644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448689   ⟹   XP_047304645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448690   ⟹   XP_047304646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448691   ⟹   XP_047304647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448692   ⟹   XP_047304648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448693   ⟹   XP_047304649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448694   ⟹   XP_047304650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448695   ⟹   XP_047304651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,320,527 (-)NCBI
RefSeq Acc Id: XM_047448696   ⟹   XP_047304652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448697   ⟹   XP_047304653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_047448698   ⟹   XP_047304654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38310,300,931 - 10,321,112 (-)NCBI
RefSeq Acc Id: XM_054347491   ⟹   XP_054203466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347492   ⟹   XP_054203467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347493   ⟹   XP_054203468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347494   ⟹   XP_054203469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347495   ⟹   XP_054203470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347496   ⟹   XP_054203471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347497   ⟹   XP_054203472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347498   ⟹   XP_054203473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347499   ⟹   XP_054203474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,313,836 (-)NCBI
RefSeq Acc Id: XM_054347500   ⟹   XP_054203475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347501   ⟹   XP_054203476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347502   ⟹   XP_054203477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347503   ⟹   XP_054203478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
RefSeq Acc Id: XM_054347504   ⟹   XP_054203479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0310,294,231 - 10,314,421 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001129498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129704 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265875 (Get FASTA)   NCBI Sequence Viewer  
  NP_109598 (Get FASTA)   NCBI Sequence Viewer  
  NP_899195 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862509 (Get FASTA)   NCBI Sequence Viewer  
  XP_016862510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304646 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304647 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304648 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304649 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304650 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304651 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304652 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304653 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304654 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203478 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203479 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02634 (Get FASTA)   NCBI Sequence Viewer  
  AAH06167 (Get FASTA)   NCBI Sequence Viewer  
  AAH91506 (Get FASTA)   NCBI Sequence Viewer  
  ABO65080 (Get FASTA)   NCBI Sequence Viewer  
  ACH92821 (Get FASTA)   NCBI Sequence Viewer  
  BAD92791 (Get FASTA)   NCBI Sequence Viewer  
  BAD96739 (Get FASTA)   NCBI Sequence Viewer  
  BAG57832 (Get FASTA)   NCBI Sequence Viewer  
  BAG63403 (Get FASTA)   NCBI Sequence Viewer  
  EAW64077 (Get FASTA)   NCBI Sequence Viewer  
  EAW64078 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312122
  ENSP00000312122.4
  ENSP00000336566
  ENSP00000336566.4
  ENSP00000373312
  ENSP00000373312.2
  ENSP00000380298
  ENSP00000380298.3
  ENSP00000380306
  ENSP00000380306.1
  ENSP00000398623.1
  ENSP00000400260.1
  ENSP00000401368.1
  ENSP00000404141.1
GenBank Protein P55735 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_899195   ⟸   NM_183352
- Peptide Label: isoform 1
- UniProtKB: Q9BRM6 (UniProtKB/Swiss-Prot),   Q5BJF0 (UniProtKB/Swiss-Prot),   B4DXJ1 (UniProtKB/Swiss-Prot),   A8MV37 (UniProtKB/Swiss-Prot),   Q9BUG7 (UniProtKB/Swiss-Prot),   P55735 (UniProtKB/Swiss-Prot),   Q53GB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129704   ⟸   NM_001136232
- Peptide Label: isoform 2
- UniProtKB: Q53GB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_109598   ⟸   NM_030673
- Peptide Label: isoform 4
- UniProtKB: Q53GB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129498   ⟸   NM_001136026
- Peptide Label: isoform 3
- UniProtKB: Q53GB2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265875   ⟸   NM_001278946
- Peptide Label: isoform 5
- UniProtKB: A8MWR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862510   ⟸   XM_017007021
- Peptide Label: isoform X8
- UniProtKB: A8MXL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016862509   ⟸   XM_017007020
- Peptide Label: isoform X7
- UniProtKB: A8MXL6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000400260   ⟸   ENST00000428626
Ensembl Acc Id: ENSP00000336566   ⟸   ENST00000337354
Ensembl Acc Id: ENSP00000312122   ⟸   ENST00000350697
Ensembl Acc Id: ENSP00000401368   ⟸   ENST00000431352
Ensembl Acc Id: ENSP00000398623   ⟸   ENST00000445064
Ensembl Acc Id: ENSP00000404141   ⟸   ENST00000432213
Ensembl Acc Id: ENSP00000380306   ⟸   ENST00000397117
Ensembl Acc Id: ENSP00000380298   ⟸   ENST00000397109
Ensembl Acc Id: ENSP00000373312   ⟸   ENST00000383801
RefSeq Acc Id: XP_047304652   ⟸   XM_047448696
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047304650   ⟸   XM_047448694
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047304654   ⟸   XM_047448698
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047304649   ⟸   XM_047448693
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304647   ⟸   XM_047448691
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047304653   ⟸   XM_047448697
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047304644   ⟸   XM_047448688
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047304648   ⟸   XM_047448692
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047304646   ⟸   XM_047448690
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047304645   ⟸   XM_047448689
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047304643   ⟸   XM_047448687
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047304651   ⟸   XM_047448695
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203479   ⟸   XM_054347504
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054203475   ⟸   XM_054347500
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203473   ⟸   XM_054347498
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054203478   ⟸   XM_054347503
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054203472   ⟸   XM_054347497
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203470   ⟸   XM_054347495
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203477   ⟸   XM_054347502
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203467   ⟸   XM_054347492
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203471   ⟸   XM_054347496
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054203476   ⟸   XM_054347501
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054203469   ⟸   XM_054347494
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054203468   ⟸   XM_054347493
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203466   ⟸   XM_054347491
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203474   ⟸   XM_054347499
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55735-F1-model_v2 AlphaFold P55735 1-322 view protein structure

Promoters
RGD ID:6863572
Promoter ID:EPDNEW_H4951
Type:initiation region
Name:SEC13_1
Description:SEC13 homolog, nuclear pore and COPII coat complex component
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
GRCh38310,321,112 - 10,321,172EPDNEW
RGD ID:6801636
Promoter ID:HG_KWN:43709
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000339648,   OTTHUMT00000339652,   OTTHUMT00000339653
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,321,726 - 10,323,032 (-)MPROMDB
RGD ID:6801637
Promoter ID:HG_KWN:43710
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000339650,   OTTHUMT00000339651,   UC003BVL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,329,271 - 10,332,617 (-)MPROMDB
RGD ID:6801638
Promoter ID:HG_KWN:43711
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000339649,   UC003BVR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,334,356 - 10,335,297 (-)MPROMDB
RGD ID:6801639
Promoter ID:HG_KWN:43713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337354,   ENST00000397099,   ENST00000397101,   ENST00000397102,   ENST00000397109,   ENST00000397117,   OTTHUMT00000250563,   OTTHUMT00000314430,   OTTHUMT00000314431,   OTTHUMT00000314435,   OTTHUMT00000314436,   OTTHUMT00000339654,   UC003BVO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36310,337,499 - 10,337,999 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10697 AgrOrtholog
COSMIC SEC13 COSMIC
Ensembl Genes ENSG00000157020 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000337354 ENTREZGENE
  ENST00000337354.8 UniProtKB/Swiss-Prot
  ENST00000350697 ENTREZGENE
  ENST00000350697.8 UniProtKB/Swiss-Prot
  ENST00000383801 ENTREZGENE
  ENST00000383801.6 UniProtKB/Swiss-Prot
  ENST00000397105 ENTREZGENE
  ENST00000397109 ENTREZGENE
  ENST00000397109.7 UniProtKB/Swiss-Prot
  ENST00000397117 ENTREZGENE
  ENST00000397117.5 UniProtKB/TrEMBL
  ENST00000428626.5 UniProtKB/TrEMBL
  ENST00000431352.1 UniProtKB/TrEMBL
  ENST00000432213.1 UniProtKB/TrEMBL
  ENST00000445064.1 UniProtKB/TrEMBL
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157020 GTEx
HGNC ID HGNC:10697 ENTREZGENE
Human Proteome Map SEC13 Human Proteome Map
InterPro Sec13/Seh1_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6396 UniProtKB/Swiss-Prot
NCBI Gene 6396 ENTREZGENE
OMIM 600152 OMIM
PANTHER PTHR11024 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11024:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35620 PharmGKB
PROSITE WD_REPEATS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD_REPEATS_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MV37 ENTREZGENE
  A8MWR8 ENTREZGENE, UniProtKB/TrEMBL
  A8MXL6 ENTREZGENE, UniProtKB/TrEMBL
  B4DXJ1 ENTREZGENE
  C9J0S2_HUMAN UniProtKB/TrEMBL
  C9JBJ5_HUMAN UniProtKB/TrEMBL
  C9JIB6_HUMAN UniProtKB/TrEMBL
  E7ERC8_HUMAN UniProtKB/TrEMBL
  P55735 ENTREZGENE
  Q53GB2 ENTREZGENE, UniProtKB/TrEMBL
  Q5BJF0 ENTREZGENE
  Q9BRM6 ENTREZGENE
  Q9BUG7 ENTREZGENE
  SEC13_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MV37 UniProtKB/Swiss-Prot
  B4DXJ1 UniProtKB/Swiss-Prot
  Q5BJF0 UniProtKB/Swiss-Prot
  Q9BRM6 UniProtKB/Swiss-Prot
  Q9BUG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-11 SEC13  SEC13 homolog, nuclear pore and COPII coat complex component  SEC13  SEC13 homolog, nuclear pore and COPII coating complex component  Symbol and/or name change 5135510 APPROVED
2015-07-28 SEC13  SEC13 homolog, nuclear pore and COPII coating complex component  SEC13  SEC13 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED