GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1) - Rat Genome Database

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Gene: GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1) Homo sapiens
Analyze
Symbol: GBF1
Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
RGD ID: 1316187
HGNC Page HGNC:4181
Description: Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including Golgi disassembly; Golgi vesicle transport; and protein localization to organelle. Located in Golgi apparatus; cell leading edge; and endoplasmic reticulum-Golgi intermediate compartment. Implicated in Charcot-Marie-Tooth disease dominant intermediate A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARF1GEF; BFA-resistant GEF 1; CMT2GG; CMTDI2; CMTDIA; FLJ21263; FLJ21500; golgi-specific brefeldin A resistance factor 1; golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1; golgi-specific brefeldin A-resistance factor 1; Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; KIAA0248; MGC134877; MGC134878
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,230,643 - 102,382,896 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,245,371 - 102,382,899 (+)EnsemblGRCh38hg38GRCh38
GRCh3710103,990,400 - 104,142,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,995,299 - 104,132,639 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410103,995,298 - 104,132,639NCBI
Celera1097,746,227 - 97,883,548 (+)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,637,542 - 97,775,465 (+)NCBIHuRef
CHM1_110104,288,779 - 104,426,082 (+)NCBICHM1_1
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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:9039502   PMID:9828135   PMID:10402461   PMID:11031247   PMID:11252894   PMID:11533914   PMID:12047556   PMID:12168954   PMID:12477932   PMID:12634853   PMID:12646181   PMID:12808027  
PMID:15164054   PMID:15302935   PMID:15324660   PMID:15489334   PMID:15616190   PMID:15813748   PMID:16318580   PMID:16344560   PMID:16385451   PMID:16565220   PMID:16926190   PMID:16956762  
PMID:17079330   PMID:17329336   PMID:17353931   PMID:17429068   PMID:17666033   PMID:17956946   PMID:18003980   PMID:18029348   PMID:18063581   PMID:18084281   PMID:18287014   PMID:18524849  
PMID:18551169   PMID:18799457   PMID:19023417   PMID:19039328   PMID:19740986   PMID:19773279   PMID:19906930   PMID:19913121   PMID:19946888   PMID:20164217   PMID:20175751   PMID:20379614  
PMID:20497182   PMID:20504936   PMID:20530568   PMID:20562859   PMID:20628086   PMID:20854417   PMID:21722633   PMID:21789191   PMID:21909260   PMID:22185782   PMID:22359663   PMID:22360420  
PMID:22573891   PMID:22863883   PMID:23383273   PMID:23386609   PMID:23418352   PMID:23572552   PMID:23703321   PMID:23825951   PMID:23840591   PMID:23956138   PMID:24213530   PMID:24255178  
PMID:24855065   PMID:24952745   PMID:25036637   PMID:25332235   PMID:25410869   PMID:25515538   PMID:25609649   PMID:25653442   PMID:25900982   PMID:25921289   PMID:26167880   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26718629   PMID:26814617   PMID:26972000   PMID:27320910   PMID:27462432   PMID:28065597   PMID:28190767   PMID:28380382   PMID:28389568   PMID:28514442  
PMID:28675297   PMID:29046456   PMID:29112323   PMID:29180619   PMID:29361542   PMID:29507113   PMID:29507755   PMID:29568061   PMID:29778605   PMID:29898406   PMID:30021884   PMID:30459446  
PMID:30567983   PMID:30943106   PMID:30948266   PMID:31006538   PMID:31024071   PMID:31091453   PMID:31240132   PMID:31270230   PMID:31332168   PMID:31375590   PMID:31519766   PMID:31570497  
PMID:31586073   PMID:31610914   PMID:31871319   PMID:31980649   PMID:32235678   PMID:32296183   PMID:32484234   PMID:32599855   PMID:32652860   PMID:32687490   PMID:32828303   PMID:32937143  
PMID:33005030   PMID:33022573   PMID:33239621   PMID:33405949   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34428256   PMID:34432599   PMID:34591612   PMID:34709727   PMID:34870592  
PMID:35044719   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35748872   PMID:35831314   PMID:35944360   PMID:36114006  
PMID:36168628   PMID:36180527   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36305789   PMID:36543142   PMID:36931259   PMID:37774976   PMID:37827155  


Genomics

Comparative Map Data
GBF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810102,230,643 - 102,382,896 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10102,245,371 - 102,382,899 (+)EnsemblGRCh38hg38GRCh38
GRCh3710103,990,400 - 104,142,653 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610103,995,299 - 104,132,639 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410103,995,298 - 104,132,639NCBI
Celera1097,746,227 - 97,883,548 (+)NCBICelera
Cytogenetic Map10q24.32NCBI
HuRef1097,637,542 - 97,775,465 (+)NCBIHuRef
CHM1_110104,288,779 - 104,426,082 (+)NCBICHM1_1
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBIT2T-CHM13v2.0
Gbf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391946,140,948 - 46,274,949 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1946,140,948 - 46,274,949 (+)EnsemblGRCm39 Ensembl
GRCm381946,152,509 - 46,286,510 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1946,152,509 - 46,286,510 (+)EnsemblGRCm38mm10GRCm38
MGSCv371946,227,048 - 46,361,000 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361946,205,869 - 46,339,821 (+)NCBIMGSCv36mm8
Celera1946,916,366 - 47,049,730 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.75NCBI
Gbf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81254,959,784 - 255,088,479 (+)NCBIGRCr8
mRatBN7.21245,018,535 - 245,147,052 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1245,018,568 - 245,147,042 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1253,140,270 - 253,268,687 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01259,835,181 - 259,963,390 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01252,487,000 - 252,615,168 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01265,904,616 - 266,033,107 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1265,904,566 - 266,033,156 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01273,334,980 - 273,464,048 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41251,373,242 - 251,501,663 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11251,723,054 - 251,763,642 (+)NCBI
Celera1240,801,947 - 240,930,218 (+)NCBICelera
Cytogenetic Map1q54NCBI
Gbf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554858,006,706 - 8,115,561 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554858,006,161 - 8,126,074 (-)NCBIChiLan1.0ChiLan1.0
GBF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28114,132,933 - 114,270,450 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110114,138,308 - 114,275,772 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01098,849,000 - 98,986,443 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110102,316,329 - 102,452,439 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10102,316,329 - 102,452,439 (+)Ensemblpanpan1.1panPan2
GBF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12814,775,431 - 14,896,121 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2814,788,369 - 14,895,978 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2814,947,856 - 15,068,574 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02815,249,244 - 15,370,247 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2815,249,266 - 15,370,237 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12814,794,581 - 14,915,297 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02814,833,489 - 14,954,383 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02814,966,253 - 15,086,996 (+)NCBIUU_Cfam_GSD_1.0
Gbf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721331,875,820 - 32,000,999 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366003,479,048 - 3,604,241 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366003,479,045 - 3,604,241 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GBF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14113,245,502 - 113,379,471 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114113,245,486 - 113,379,472 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214123,099,432 - 123,233,891 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GBF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1995,281,953 - 95,416,050 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl995,281,954 - 95,416,086 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604856,384,219 - 56,521,573 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gbf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248311,665,193 - 1,798,149 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248311,665,507 - 1,801,409 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GBF1
127 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1 copy number loss See cases [RCV000052568] Chr10:102243341..103929730 [GRCh38]
Chr10:104003098..105689488 [GRCh37]
Chr10:103993088..105679478 [NCBI36]
Chr10:10q24.32-24.33
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_001199378.1(GBF1):c.163+28403G>A single nucleotide variant Lung cancer [RCV000108530] Chr10:102288519 [GRCh38]
Chr10:104048276 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001199378.1(GBF1):c.639+1827C>G single nucleotide variant Lung cancer [RCV000108531] Chr10:102355481 [GRCh38]
Chr10:104115238 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.524A>C (p.Asn175Thr) single nucleotide variant Inborn genetic diseases [RCV003212089] Chr10:102230899 [GRCh38]
Chr10:103990656 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.285C>T (p.Ile95=) single nucleotide variant Anterior segment dysgenesis 1 [RCV001788060]|Cataract 11 multiple types [RCV001788061]|not provided [RCV000828394]|not specified [RCV000177223] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
benign
NM_005029.4(PITX3):c.640_656del (p.Ala214fs) deletion not provided [RCV002526156] Chr10:102230767..102230783 [GRCh38]
Chr10:103990524..103990540 [GRCh37]
Chr10:10q24.32
likely pathogenic|uncertain significance
NM_005029.4(PITX3):c.773A>G (p.Asp258Gly) single nucleotide variant not provided [RCV001310574] Chr10:102230650 [GRCh38]
Chr10:103990407 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.646C>T (p.Gln216Ter) single nucleotide variant not provided [RCV000414049] Chr10:102230777 [GRCh38]
Chr10:103990534 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) duplication ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES [RCV002294347]|Cataract 11 multiple types [RCV003333078]|Cataract 11, posterior polar [RCV002294346]|not provided [RCV000627511] Chr10:102230766..102230767 [GRCh38]
Chr10:103990523..103990524 [GRCh37]
Chr10:10q24.32
pathogenic
NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) single nucleotide variant not provided [RCV001343873] Chr10:102231035 [GRCh38]
Chr10:103990792 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_001377137.1(GBF1):c.5086T>G (p.Ser1696Ala) single nucleotide variant Inborn genetic diseases [RCV003283139] Chr10:102380599 [GRCh38]
Chr10:104140356 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5093T>C (p.Leu1698Pro) single nucleotide variant Inborn genetic diseases [RCV003287966] Chr10:102380606 [GRCh38]
Chr10:104140363 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1 copy number loss not provided [RCV000683260] Chr10:103891057..105339973 [GRCh37]
Chr10:10q24.32-24.33
likely pathogenic
GRCh37/hg19 10q24.32(chr10:104004798-104015279)x1 copy number loss not provided [RCV000737291] Chr10:104004798..104015279 [GRCh37]
Chr10:10q24.32
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001377137.1(GBF1):c.4200= (p.Ile1400=) variation not provided [RCV000964629] Chr10:102376712 [GRCh38]
Chr10:104136469 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.524-7T>C single nucleotide variant not provided [RCV000954556] Chr10:102352451 [GRCh38]
Chr10:104112208 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.4326A>G (p.Lys1442=) single nucleotide variant not provided [RCV000954557] Chr10:102376972 [GRCh38]
Chr10:104136729 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.4470G>A (p.Thr1490=) single nucleotide variant not provided [RCV000954558] Chr10:102377116 [GRCh38]
Chr10:104136873 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.83C>G (p.Thr28Ser) single nucleotide variant Inborn genetic diseases [RCV003273472] Chr10:102259021 [GRCh38]
Chr10:104018778 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2749C>T (p.Arg917Cys) single nucleotide variant Inborn genetic diseases [RCV003241130] Chr10:102368324 [GRCh38]
Chr10:104128081 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5233G>A (p.Ala1745Thr) single nucleotide variant Inborn genetic diseases [RCV003252340] Chr10:102381186 [GRCh38]
Chr10:104140943 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.-12-273A>G single nucleotide variant not provided [RCV001710234] Chr10:102232365 [GRCh38]
Chr10:103992122 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.2948G>A (p.Cys983Tyr) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730753]|Motor axonal neuropathy [RCV001249193] Chr10:102368807 [GRCh38]
Chr10:104128564 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_005029.4(PITX3):c.322-132C>G single nucleotide variant not provided [RCV001593948] Chr10:102231233 [GRCh38]
Chr10:103990990 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.321+142C>G single nucleotide variant not provided [RCV001642003] Chr10:102231446 [GRCh38]
Chr10:103991203 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.3528G>A (p.Trp1176Ter) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730754]|Motor axonal neuropathy [RCV001250272] Chr10:102370728 [GRCh38]
Chr10:104130485 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_001377137.1(GBF1):c.4385G>A (p.Arg1462Gln) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730752]|Motor axonal neuropathy [RCV001249190] Chr10:102377031 [GRCh38]
Chr10:104136788 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_001377137.1(GBF1):c.3413C>T (p.Ala1138Val) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001730755]|Motor axonal neuropathy [RCV001251623] Chr10:102370385 [GRCh38]
Chr10:104130142 [GRCh37]
Chr10:10q24.32
pathogenic|likely pathogenic
NM_005029.4(PITX3):c.55T>A (p.Ser19Thr) single nucleotide variant not provided [RCV001325335] Chr10:102232026 [GRCh38]
Chr10:103991783 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.42T>C (p.Pro14=) single nucleotide variant not provided [RCV000329890] Chr10:102232039 [GRCh38]
Chr10:103991796 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.650del (p.Gly217fs) deletion Cataract 11, posterior polar [RCV000043531]|Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities [RCV000043534] Chr10:102230773 [GRCh38]
Chr10:103990530 [GRCh37]
Chr10:10q24.32
pathogenic
NM_005029.4(PITX3):c.285C>A (p.Ile95=) single nucleotide variant not provided [RCV000830831] Chr10:102231624 [GRCh38]
Chr10:103991381 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter) single nucleotide variant not provided [RCV000760543] Chr10:102230661 [GRCh38]
Chr10:103990418 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_005029.4(PITX3):c.448G>T (p.Gly150Cys) single nucleotide variant not provided [RCV001338728] Chr10:102230975 [GRCh38]
Chr10:103990732 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.414G>T (p.Gly138=) single nucleotide variant not provided [RCV001363185] Chr10:102231009 [GRCh38]
Chr10:103990766 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) single nucleotide variant Cataract 11 multiple types [RCV000007351] Chr10:102232043 [GRCh38]
Chr10:103991800 [GRCh37]
Chr10:10q24.32
pathogenic
NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup) microsatellite not provided [RCV001856259] Chr10:102230682..102230683 [GRCh38]
Chr10:103990439..103990440 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.657_658insCCAGACCCTGCAGGGCC (p.Gly220fs) insertion not provided [RCV001380230] Chr10:102230765..102230766 [GRCh38]
Chr10:103990522..103990523 [GRCh37]
Chr10:10q24.32
pathogenic
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1
uncertain significance
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys) single nucleotide variant Anterior segment dysgenesis 1 [RCV001733623] Chr10:102231993 [GRCh38]
Chr10:103991750 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.397T>C (p.Phe133Leu) single nucleotide variant not provided [RCV001766995] Chr10:102231026 [GRCh38]
Chr10:103990783 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4278T>A (p.Ser1426Arg) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV001837616] Chr10:102376790 [GRCh38]
Chr10:104136547 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.617del (p.Pro206fs) deletion not provided [RCV002015949] Chr10:102230806 [GRCh38]
Chr10:103990563 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3
pathogenic
NM_001377137.1(GBF1):c.2732_2733del (p.Pro911fs) deletion Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002498076]|not provided [RCV002034117] Chr10:102368307..102368308 [GRCh38]
Chr10:104128064..104128065 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.218G>T (p.Arg73Leu) single nucleotide variant not provided [RCV001976846] Chr10:102344105 [GRCh38]
Chr10:104103862 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.636_637dup (p.Gly213fs) duplication not provided [RCV001951039] Chr10:102230785..102230786 [GRCh38]
Chr10:103990542..103990543 [GRCh37]
Chr10:10q24.32
pathogenic
NM_001377137.1(GBF1):c.4384C>T (p.Arg1462Trp) single nucleotide variant not provided [RCV002211160] Chr10:102377030 [GRCh38]
Chr10:104136787 [GRCh37]
Chr10:10q24.32
likely pathogenic
NM_001377137.1(GBF1):c.3604G>A (p.Val1202Met) single nucleotide variant not provided [RCV003121741] Chr10:102370804 [GRCh38]
Chr10:104130561 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.682G>A (p.Ala228Thr) single nucleotide variant not provided [RCV003109887] Chr10:102230741 [GRCh38]
Chr10:103990498 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002273266] Chr10:102382254 [GRCh38]
Chr10:104142011 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5294G>C (p.Gly1765Ala) single nucleotide variant Charcot-Marie-Tooth Disease, axonal, type 2GG [RCV002267560] Chr10:102381247 [GRCh38]
Chr10:104141004 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3 copy number gain not provided [RCV002473842] Chr10:104031306..104366150 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5509G>A (p.Glu1837Lys) single nucleotide variant Inborn genetic diseases [RCV002685178] Chr10:102382262 [GRCh38]
Chr10:104142019 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.445C>A (p.Pro149Thr) single nucleotide variant not provided [RCV002908100] Chr10:102230978 [GRCh38]
Chr10:103990735 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1409G>A (p.Arg470Gln) single nucleotide variant Inborn genetic diseases [RCV002689263] Chr10:102361038 [GRCh38]
Chr10:104120795 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1867G>T (p.Ala623Ser) single nucleotide variant Inborn genetic diseases [RCV002729229] Chr10:102362655 [GRCh38]
Chr10:104122412 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5384G>C (p.Ser1795Thr) single nucleotide variant Inborn genetic diseases [RCV002734352] Chr10:102382137 [GRCh38]
Chr10:104141894 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.34C>G (p.Arg12Gly) single nucleotide variant not provided [RCV003074459] Chr10:102232047 [GRCh38]
Chr10:103991804 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1006C>T (p.Leu336Phe) single nucleotide variant Inborn genetic diseases [RCV002688954] Chr10:102358724 [GRCh38]
Chr10:104118481 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5255C>G (p.Pro1752Arg) single nucleotide variant Inborn genetic diseases [RCV002844745] Chr10:102381208 [GRCh38]
Chr10:104140965 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.758A>G (p.Asn253Ser) single nucleotide variant Inborn genetic diseases [RCV002707293] Chr10:102358157 [GRCh38]
Chr10:104117914 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4415G>A (p.Arg1472Gln) single nucleotide variant Inborn genetic diseases [RCV002739322] Chr10:102377061 [GRCh38]
Chr10:104136818 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1914G>A (p.Met638Ile) single nucleotide variant Inborn genetic diseases [RCV002951290] Chr10:102363293 [GRCh38]
Chr10:104123050 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2887G>A (p.Ala963Thr) single nucleotide variant Inborn genetic diseases [RCV002704849] Chr10:102368746 [GRCh38]
Chr10:104128503 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4675C>T (p.Arg1559Cys) single nucleotide variant Inborn genetic diseases [RCV002823267] Chr10:102379550 [GRCh38]
Chr10:104139307 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2027A>T (p.Lys676Met) single nucleotide variant Inborn genetic diseases [RCV002844187] Chr10:102363719 [GRCh38]
Chr10:104123476 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5392C>T (p.Pro1798Ser) single nucleotide variant Inborn genetic diseases [RCV002910329] Chr10:102382145 [GRCh38]
Chr10:104141902 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.699G>A (p.Gly233=) single nucleotide variant not provided [RCV002998740] Chr10:102230724 [GRCh38]
Chr10:103990481 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.1866A>T (p.Glu622Asp) single nucleotide variant Inborn genetic diseases [RCV002737051] Chr10:102362654 [GRCh38]
Chr10:104122411 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3412G>A (p.Ala1138Thr) single nucleotide variant Inborn genetic diseases [RCV002758609] Chr10:102370384 [GRCh38]
Chr10:104130141 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.764C>T (p.Thr255Ile) single nucleotide variant Inborn genetic diseases [RCV002845657] Chr10:102358163 [GRCh38]
Chr10:104117920 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.314C>T (p.Thr105Ile) single nucleotide variant Inborn genetic diseases [RCV002826345] Chr10:102351274 [GRCh38]
Chr10:104111031 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3073C>T (p.Arg1025Trp) single nucleotide variant Inborn genetic diseases [RCV002930963] Chr10:102369310 [GRCh38]
Chr10:104129067 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4307A>G (p.Lys1436Arg) single nucleotide variant Inborn genetic diseases [RCV002744895] Chr10:102376953 [GRCh38]
Chr10:104136710 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2173A>G (p.Lys725Glu) single nucleotide variant Inborn genetic diseases [RCV002641057] Chr10:102365463 [GRCh38]
Chr10:104125220 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5136C>A (p.His1712Gln) single nucleotide variant Inborn genetic diseases [RCV002789278] Chr10:102380649 [GRCh38]
Chr10:104140406 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.824C>T (p.Ser275Phe) single nucleotide variant Inborn genetic diseases [RCV002830459] Chr10:102358542 [GRCh38]
Chr10:104118299 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1805C>G (p.Thr602Ser) single nucleotide variant Inborn genetic diseases [RCV002987323] Chr10:102362593 [GRCh38]
Chr10:104122350 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.677C>T (p.Ala226Val) single nucleotide variant Inborn genetic diseases [RCV002983958] Chr10:102230746 [GRCh38]
Chr10:103990503 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5056C>T (p.His1686Tyr) single nucleotide variant Inborn genetic diseases [RCV002788960] Chr10:102380569 [GRCh38]
Chr10:104140326 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3545A>T (p.His1182Leu) single nucleotide variant Inborn genetic diseases [RCV002986885] Chr10:102370745 [GRCh38]
Chr10:104130502 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4332C>A (p.Asp1444Glu) single nucleotide variant Inborn genetic diseases [RCV002940022] Chr10:102376978 [GRCh38]
Chr10:104136735 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.562A>G (p.Met188Val) single nucleotide variant Inborn genetic diseases [RCV002964010] Chr10:102352496 [GRCh38]
Chr10:104112253 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4187C>T (p.Ser1396Leu) single nucleotide variant Inborn genetic diseases [RCV002896139] Chr10:102376699 [GRCh38]
Chr10:104136456 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3604G>T (p.Val1202Leu) single nucleotide variant Inborn genetic diseases [RCV002963659] Chr10:102370804 [GRCh38]
Chr10:104130561 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.959C>A (p.Ala320Asp) single nucleotide variant Inborn genetic diseases [RCV002835971] Chr10:102358677 [GRCh38]
Chr10:104118434 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.771G>A (p.Arg257=) single nucleotide variant not provided [RCV003091531] Chr10:102230652 [GRCh38]
Chr10:103990409 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.958G>T (p.Ala320Ser) single nucleotide variant Inborn genetic diseases [RCV002835970] Chr10:102358676 [GRCh38]
Chr10:104118433 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1955G>A (p.Arg652Gln) single nucleotide variant Inborn genetic diseases [RCV002680425] Chr10:102363334 [GRCh38]
Chr10:104123091 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2225G>A (p.Arg742Gln) single nucleotide variant Inborn genetic diseases [RCV002656971] Chr10:102365515 [GRCh38]
Chr10:104125272 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.14T>C (p.Leu5Pro) single nucleotide variant Inborn genetic diseases [RCV002723285] Chr10:102232067 [GRCh38]
Chr10:103991824 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5455C>T (p.Gln1819Ter) single nucleotide variant not provided [RCV002607572] Chr10:102382208 [GRCh38]
Chr10:104141965 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.322-11C>G single nucleotide variant not provided [RCV002612012] Chr10:102231112 [GRCh38]
Chr10:103990869 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.181A>C (p.Lys61Gln) single nucleotide variant not provided [RCV003134928] Chr10:102231728 [GRCh38]
Chr10:103991485 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5160G>C (p.Gln1720His) single nucleotide variant Inborn genetic diseases [RCV003209532] Chr10:102380673 [GRCh38]
Chr10:104140430 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1199A>G (p.Tyr400Cys) single nucleotide variant Inborn genetic diseases [RCV003209749] Chr10:102360202 [GRCh38]
Chr10:104119959 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1847T>C (p.Ile616Thr) single nucleotide variant Inborn genetic diseases [RCV003206087] Chr10:102362635 [GRCh38]
Chr10:104122392 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3560G>A (p.Cys1187Tyr) single nucleotide variant Inborn genetic diseases [RCV003200182] Chr10:102370760 [GRCh38]
Chr10:104130517 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5546G>A (p.Arg1849His) single nucleotide variant Inborn genetic diseases [RCV003201609] Chr10:102382299 [GRCh38]
Chr10:104142056 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3056G>A (p.Arg1019His) single nucleotide variant Inborn genetic diseases [RCV003183340] Chr10:102369293 [GRCh38]
Chr10:104129050 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.3500A>C (p.Glu1167Ala) single nucleotide variant Inborn genetic diseases [RCV003173985] Chr10:102370472 [GRCh38]
Chr10:104130229 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1558G>C (p.Glu520Gln) single nucleotide variant Inborn genetic diseases [RCV003193304] Chr10:102361784 [GRCh38]
Chr10:104121541 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4738A>G (p.Lys1580Glu) single nucleotide variant Inborn genetic diseases [RCV003214794] Chr10:102379613 [GRCh38]
Chr10:104139370 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.4607G>A (p.Arg1536His) single nucleotide variant Inborn genetic diseases [RCV003215142] Chr10:102379396 [GRCh38]
Chr10:104139153 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5393C>T (p.Pro1798Leu) single nucleotide variant Inborn genetic diseases [RCV003180178] Chr10:102382146 [GRCh38]
Chr10:104141903 [GRCh37]
Chr10:10q24.32
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_001377137.1(GBF1):c.73C>T (p.Arg25Ter) single nucleotide variant not provided [RCV003322244] Chr10:102259011 [GRCh38]
Chr10:104018768 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.740C>T (p.Ala247Val) single nucleotide variant Inborn genetic diseases [RCV003345860] Chr10:102230683 [GRCh38]
Chr10:103990440 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1774C>G (p.His592Asp) single nucleotide variant Inborn genetic diseases [RCV003379384] Chr10:102362562 [GRCh38]
Chr10:104122319 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.234G>A (p.Glu78=) single nucleotide variant not provided [RCV003422834] Chr10:102231675 [GRCh38]
Chr10:103991432 [GRCh37]
Chr10:10q24.32
likely benign
NM_005029.4(PITX3):c.661G>A (p.Gly221Ser) single nucleotide variant not provided [RCV003725923] Chr10:102230762 [GRCh38]
Chr10:103990519 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.185A>G (p.Gln62Arg) single nucleotide variant not provided [RCV003874069] Chr10:102231724 [GRCh38]
Chr10:103991481 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV003873951] Chr10:102232049 [GRCh38]
Chr10:103991806 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.441G>T (p.Val147=) single nucleotide variant not provided [RCV003690271] Chr10:102230982 [GRCh38]
Chr10:103990739 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.3677G>A (p.Arg1226His) single nucleotide variant not provided [RCV003481991] Chr10:102375375 [GRCh38]
Chr10:104135132 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.703G>A (p.Val235Met) single nucleotide variant PITX3-related condition [RCV003419104]|not provided [RCV003708796] Chr10:102230720 [GRCh38]
Chr10:103990477 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.684G>T (p.Lys228Asn) single nucleotide variant not provided [RCV003481990] Chr10:102358083 [GRCh38]
Chr10:104117840 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.5184C>T (p.Pro1728=) single nucleotide variant not provided [RCV003456721] Chr10:102381137 [GRCh38]
Chr10:104140894 [GRCh37]
Chr10:10q24.32
likely benign
NM_001377137.1(GBF1):c.991C>T (p.Pro331Ser) single nucleotide variant GBF1-related condition [RCV003404227] Chr10:102358709 [GRCh38]
Chr10:104118466 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.2358C>T (p.Tyr786=) single nucleotide variant not provided [RCV003422835] Chr10:102366431 [GRCh38]
Chr10:104126188 [GRCh37]
Chr10:10q24.32
benign
NM_001377137.1(GBF1):c.3461C>T (p.Ala1154Val) single nucleotide variant GBF1-related condition [RCV003405947] Chr10:102370433 [GRCh38]
Chr10:104130190 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_001377137.1(GBF1):c.1621A>C (p.Ile541Leu) single nucleotide variant not provided [RCV003692196] Chr10:102361847 [GRCh38]
Chr10:104121604 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.586G>A (p.Ala196Thr) single nucleotide variant not provided [RCV003558976] Chr10:102230837 [GRCh38]
Chr10:103990594 [GRCh37]
Chr10:10q24.32
uncertain significance
NM_005029.4(PITX3):c.669C>T (p.Pro223=) single nucleotide variant not provided [RCV003821417] Chr10:102230754 [GRCh38]
Chr10:103990511 [GRCh37]
Chr10:10q24.32
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:505
Count of miRNA genes:399
Interacting mature miRNAs:427
Transcripts:ENST00000369983, ENST00000476019
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
AFM183xb12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,064,797 - 104,065,055UniSTSGRCh37
Build 3610104,054,787 - 104,055,045RGDNCBI36
Celera1097,805,699 - 97,805,951RGD
Cytogenetic Map10q24UniSTS
HuRef1097,697,596 - 97,697,848UniSTS
Whitehead-RH Map10575.5UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH45663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,049,434 - 104,049,556UniSTSGRCh37
Build 3610104,039,424 - 104,039,546RGDNCBI36
Celera1097,790,338 - 97,790,460RGD
Cytogenetic Map10q24UniSTS
HuRef1097,682,234 - 97,682,356UniSTS
GeneMap99-GB4 RH Map10486.99UniSTS
RH80779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,095 - 104,142,293UniSTSGRCh37
Build 3610104,132,085 - 104,132,283RGDNCBI36
Celera1097,882,994 - 97,883,192RGD
Cytogenetic Map10q24UniSTS
HuRef1097,774,904 - 97,775,102UniSTS
GeneMap99-GB4 RH Map10486.26UniSTS
RH80701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,410 - 104,142,595UniSTSGRCh37
Build 3610104,132,400 - 104,132,585RGDNCBI36
Celera1097,883,309 - 97,883,494RGD
Cytogenetic Map10q24UniSTS
HuRef1097,775,219 - 97,775,404UniSTS
GeneMap99-GB4 RH Map10478.15UniSTS
RH44977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,067,759 - 104,067,864UniSTSGRCh37
Build 3610104,057,749 - 104,057,854RGDNCBI36
Celera1097,808,655 - 97,808,760RGD
Cytogenetic Map10q24UniSTS
HuRef1097,700,552 - 97,700,657UniSTS
GeneMap99-GB4 RH Map10482.26UniSTS
NCBI RH Map101105.5UniSTS
GBF1__6792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,141,975 - 104,142,655UniSTSGRCh37
Build 3610104,131,965 - 104,132,645RGDNCBI36
Celera1097,882,874 - 97,883,554RGD
HuRef1097,774,784 - 97,775,464UniSTS
RH44262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,142,449 - 104,142,589UniSTSGRCh37
Build 3610104,132,439 - 104,132,579RGDNCBI36
Celera1097,883,348 - 97,883,488RGD
Cytogenetic Map10q24UniSTS
HuRef1097,775,258 - 97,775,398UniSTS
GeneMap99-GB4 RH Map10478.66UniSTS
RH44724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,088,054 - 104,088,241UniSTSGRCh37
Build 3610104,078,044 - 104,078,231RGDNCBI36
Celera1097,828,950 - 97,829,137RGD
Cytogenetic Map10q24UniSTS
HuRef1097,720,848 - 97,721,035UniSTS
GeneMap99-GB4 RH Map10486.99UniSTS
AFMa301wf1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710104,036,527 - 104,036,776UniSTSGRCh37
Build 3610104,026,517 - 104,026,766RGDNCBI36
Celera1097,777,439 - 97,777,688RGD
Cytogenetic Map10q24UniSTS
HuRef1097,669,338 - 97,669,587UniSTS
Whitehead-RH Map10567.9UniSTS


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 2436 2593 1676 578 1658 419 4357 2100 3246 388 1458 1608 175 1 1204 2788 6 2
Low 3 398 50 46 293 46 97 488 31 2 5
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF068755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF283556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI859700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA176540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA772398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000369983   ⟹   ENSP00000359000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,382,896 (+)Ensembl
RefSeq Acc Id: ENST00000476019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,359,099 - 102,361,187 (+)Ensembl
RefSeq Acc Id: ENST00000673650   ⟹   ENSP00000501233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,382,899 (+)Ensembl
RefSeq Acc Id: ENST00000674034   ⟹   ENSP00000501064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,382,899 (+)Ensembl
RefSeq Acc Id: ENST00000676474   ⟹   ENSP00000503988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,256 - 102,363,798 (+)Ensembl
RefSeq Acc Id: ENST00000676482   ⟹   ENSP00000503160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,369,211 - 102,370,245 (+)Ensembl
RefSeq Acc Id: ENST00000676513   ⟹   ENSP00000503207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,371 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000676558   ⟹   ENSP00000502942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,272 - 102,377,140 (+)Ensembl
RefSeq Acc Id: ENST00000676560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000676561   ⟹   ENSP00000504119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,521 - 102,379,954 (+)Ensembl
RefSeq Acc Id: ENST00000676606   ⟹   ENSP00000504111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,853 - 102,380,362 (+)Ensembl
RefSeq Acc Id: ENST00000676673   ⟹   ENSP00000504200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,256 - 102,367,210 (+)Ensembl
RefSeq Acc Id: ENST00000676682   ⟹   ENSP00000503097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,547 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000676735   ⟹   ENSP00000504811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,368,739 - 102,369,775 (+)Ensembl
RefSeq Acc Id: ENST00000676802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,381,010 - 102,381,255 (+)Ensembl
RefSeq Acc Id: ENST00000676807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,547 - 102,370,305 (+)Ensembl
RefSeq Acc Id: ENST00000676854   ⟹   ENSP00000503195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,710 - 102,366,506 (+)Ensembl
RefSeq Acc Id: ENST00000676861   ⟹   ENSP00000503311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000676877   ⟹   ENSP00000503391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,272 - 102,377,140 (+)Ensembl
RefSeq Acc Id: ENST00000676900   ⟹   ENSP00000504175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,710 - 102,365,599 (+)Ensembl
RefSeq Acc Id: ENST00000676927   ⟹   ENSP00000504243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,369,711 - 102,370,860 (+)Ensembl
RefSeq Acc Id: ENST00000676934   ⟹   ENSP00000503225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,853 - 102,380,686 (+)Ensembl
RefSeq Acc Id: ENST00000676939   ⟹   ENSP00000503981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,498 - 102,382,899 (+)Ensembl
RefSeq Acc Id: ENST00000676985   ⟹   ENSP00000504793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,375,359 - 102,376,432 (+)Ensembl
RefSeq Acc Id: ENST00000676993   ⟹   ENSP00000503918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,671 - 102,382,383 (+)Ensembl
RefSeq Acc Id: ENST00000677017   ⟹   ENSP00000504632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,361,022 - 102,366,506 (+)Ensembl
RefSeq Acc Id: ENST00000677098   ⟹   ENSP00000503557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,368,218 - 102,369,984 (+)Ensembl
RefSeq Acc Id: ENST00000677100   ⟹   ENSP00000502850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,375,359 - 102,377,140 (+)Ensembl
RefSeq Acc Id: ENST00000677235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,853 - 102,380,192 (+)Ensembl
RefSeq Acc Id: ENST00000677240   ⟹   ENSP00000503428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,885 (+)Ensembl
RefSeq Acc Id: ENST00000677247   ⟹   ENSP00000504013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000677269   ⟹   ENSP00000504136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,272 - 102,377,140 (+)Ensembl
RefSeq Acc Id: ENST00000677431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,337,430 (+)Ensembl
RefSeq Acc Id: ENST00000677439   ⟹   ENSP00000503565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,885 (+)Ensembl
RefSeq Acc Id: ENST00000677461   ⟹   ENSP00000503357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000677487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000677491   ⟹   ENSP00000504695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000677504   ⟹   ENSP00000503784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,360,184 - 102,361,912 (+)Ensembl
RefSeq Acc Id: ENST00000677506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000677522   ⟹   ENSP00000504669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,351,374 (+)Ensembl
RefSeq Acc Id: ENST00000677607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,755 - 102,375,186 (+)Ensembl
RefSeq Acc Id: ENST00000677618   ⟹   ENSP00000502877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,885 (+)Ensembl
RefSeq Acc Id: ENST00000677627   ⟹   ENSP00000504307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,361,022 - 102,365,599 (+)Ensembl
RefSeq Acc Id: ENST00000677629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,085 - 102,367,455 (+)Ensembl
RefSeq Acc Id: ENST00000677642   ⟹   ENSP00000504116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,560 - 102,377,140 (+)Ensembl
RefSeq Acc Id: ENST00000677655   ⟹   ENSP00000504432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000677662   ⟹   ENSP00000503788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,359,270 - 102,362,664 (+)Ensembl
RefSeq Acc Id: ENST00000677683   ⟹   ENSP00000503042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,351,374 (+)Ensembl
RefSeq Acc Id: ENST00000677719   ⟹   ENSP00000503380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,380,506 - 102,382,899 (+)Ensembl
RefSeq Acc Id: ENST00000677776   ⟹   ENSP00000504549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,370,707 - 102,375,584 (+)Ensembl
RefSeq Acc Id: ENST00000677797   ⟹   ENSP00000502896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,363,798 (+)Ensembl
RefSeq Acc Id: ENST00000677811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,384 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000677838   ⟹   ENSP00000503137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,344,051 - 102,352,518 (+)Ensembl
RefSeq Acc Id: ENST00000677842   ⟹   ENSP00000502897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,380,249 - 102,382,336 (+)Ensembl
RefSeq Acc Id: ENST00000677852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,284,010 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000677871   ⟹   ENSP00000504372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000677917   ⟹   ENSP00000503597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,478 - 102,368,832 (+)Ensembl
RefSeq Acc Id: ENST00000677947   ⟹   ENSP00000504014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,259,034 (+)Ensembl
RefSeq Acc Id: ENST00000677956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,294,056 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000677975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,085 - 102,367,444 (+)Ensembl
RefSeq Acc Id: ENST00000678007   ⟹   ENSP00000503172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,085 - 102,368,832 (+)Ensembl
RefSeq Acc Id: ENST00000678014   ⟹   ENSP00000504256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,361,718 - 102,363,396 (+)Ensembl
RefSeq Acc Id: ENST00000678036   ⟹   ENSP00000502947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678126   ⟹   ENSP00000503288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,358,506 - 102,360,395 (+)Ensembl
RefSeq Acc Id: ENST00000678127   ⟹   ENSP00000504207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,710 - 102,365,599 (+)Ensembl
RefSeq Acc Id: ENST00000678157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,378,316 - 102,379,434 (+)Ensembl
RefSeq Acc Id: ENST00000678215   ⟹   ENSP00000503048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,363,798 (+)Ensembl
RefSeq Acc Id: ENST00000678222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,280,595 (+)Ensembl
RefSeq Acc Id: ENST00000678268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,380,747 - 102,381,255 (+)Ensembl
RefSeq Acc Id: ENST00000678292   ⟹   ENSP00000504021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,363,396 (+)Ensembl
RefSeq Acc Id: ENST00000678293   ⟹   ENSP00000504689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,351,374 (+)Ensembl
RefSeq Acc Id: ENST00000678319   ⟹   ENSP00000503165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,370,707 - 102,376,800 (+)Ensembl
RefSeq Acc Id: ENST00000678344   ⟹   ENSP00000503346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,370,707 - 102,376,800 (+)Ensembl
RefSeq Acc Id: ENST00000678351   ⟹   ENSP00000502966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,294,056 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000678417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,145 - 102,376,800 (+)Ensembl
RefSeq Acc Id: ENST00000678426   ⟹   ENSP00000504485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,361,718 - 102,365,599 (+)Ensembl
RefSeq Acc Id: ENST00000678453   ⟹   ENSP00000504117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,478 - 102,369,984 (+)Ensembl
RefSeq Acc Id: ENST00000678476   ⟹   ENSP00000503655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,539 - 102,357,309 (+)Ensembl
RefSeq Acc Id: ENST00000678504   ⟹   ENSP00000503983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,150 - 102,376,800 (+)Ensembl
RefSeq Acc Id: ENST00000678527   ⟹   ENSP00000504189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,375,359 - 102,375,584 (+)Ensembl
RefSeq Acc Id: ENST00000678530   ⟹   ENSP00000504832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,359,270 - 102,360,395 (+)Ensembl
RefSeq Acc Id: ENST00000678558   ⟹   ENSP00000504700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,375,359 - 102,376,800 (+)Ensembl
RefSeq Acc Id: ENST00000678571   ⟹   ENSP00000504437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,370,707 - 102,379,651 (+)Ensembl
RefSeq Acc Id: ENST00000678575   ⟹   ENSP00000503764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,351,374 (+)Ensembl
RefSeq Acc Id: ENST00000678585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,365,053 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678604   ⟹   ENSP00000502953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,478 - 102,368,454 (+)Ensembl
RefSeq Acc Id: ENST00000678665   ⟹   ENSP00000503928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,370,707 - 102,379,434 (+)Ensembl
RefSeq Acc Id: ENST00000678666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000678722   ⟹   ENSP00000503508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,368,218 - 102,369,775 (+)Ensembl
RefSeq Acc Id: ENST00000678742   ⟹   ENSP00000504556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,935 - 102,379,954 (+)Ensembl
RefSeq Acc Id: ENST00000678767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,260,116 (+)Ensembl
RefSeq Acc Id: ENST00000678806   ⟹   ENSP00000503984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,363,798 (+)Ensembl
RefSeq Acc Id: ENST00000678826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,277,442 (+)Ensembl
RefSeq Acc Id: ENST00000678840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,332,408 - 102,344,182 (+)Ensembl
RefSeq Acc Id: ENST00000678923   ⟹   ENSP00000503266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,284 - 102,380,362 (+)Ensembl
RefSeq Acc Id: ENST00000678924   ⟹   ENSP00000503272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,358,506 - 102,361,120 (+)Ensembl
RefSeq Acc Id: ENST00000678941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,559 - 102,363,798 (+)Ensembl
RefSeq Acc Id: ENST00000679003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,532 - 102,360,958 (+)Ensembl
RefSeq Acc Id: ENST00000679013   ⟹   ENSP00000503054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,935 - 102,379,651 (+)Ensembl
RefSeq Acc Id: ENST00000679040   ⟹   ENSP00000504631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,521 - 102,379,954 (+)Ensembl
RefSeq Acc Id: ENST00000679080   ⟹   ENSP00000503258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,382,056 - 102,382,899 (+)Ensembl
RefSeq Acc Id: ENST00000679084   ⟹   ENSP00000502906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,365,397 - 102,367,560 (+)Ensembl
RefSeq Acc Id: ENST00000679087   ⟹   ENSP00000503230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,260,050 - 102,351,374 (+)Ensembl
RefSeq Acc Id: ENST00000679093   ⟹   ENSP00000503189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,358,506 - 102,361,120 (+)Ensembl
RefSeq Acc Id: ENST00000679139   ⟹   ENSP00000503451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,360,184 - 102,365,599 (+)Ensembl
RefSeq Acc Id: ENST00000679155   ⟹   ENSP00000503529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000679186   ⟹   ENSP00000503220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,376,560 - 102,379,434 (+)Ensembl
RefSeq Acc Id: ENST00000679203   ⟹   ENSP00000504092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,363,710 - 102,366,506 (+)Ensembl
RefSeq Acc Id: ENST00000679238   ⟹   ENSP00000504214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000679253   ⟹   ENSP00000503103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,362,475 - 102,367,210 (+)Ensembl
RefSeq Acc Id: ENST00000679280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,245,521 - 102,382,882 (+)Ensembl
RefSeq Acc Id: ENST00000679288   ⟹   ENSP00000503966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,379,853 - 102,381,255 (+)Ensembl
RefSeq Acc Id: ENST00000679298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,367,478 - 102,367,872 (+)Ensembl
RefSeq Acc Id: ENST00000679305   ⟹   ENSP00000503919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,365,397 - 102,368,454 (+)Ensembl
RefSeq Acc Id: ENST00000679317   ⟹   ENSP00000503609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10102,380,249 - 102,381,255 (+)Ensembl
RefSeq Acc Id: NM_001199378   ⟹   NP_001186307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)NCBI
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001199379   ⟹   NP_001186308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)ENTREZGENE
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377137   ⟹   NP_001364066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377138   ⟹   NP_001364067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377139   ⟹   NP_001364068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377140   ⟹   NP_001364069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001377141   ⟹   NP_001364070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391922   ⟹   NP_001378851
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391923   ⟹   NP_001378852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,230,643 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391924   ⟹   NP_001378853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,230,643 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,115,630 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391925   ⟹   NP_001378854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391926   ⟹   NP_001378855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391927   ⟹   NP_001378856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391928   ⟹   NP_001378857
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391929   ⟹   NP_001378858
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391930   ⟹   NP_001378859
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391931   ⟹   NP_001378860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001411003   ⟹   NP_001397932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: NM_001411027   ⟹   NP_001397956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: NM_004193   ⟹   NP_004184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
GRCh3710104,005,255 - 104,142,656 (+)ENTREZGENE
Build 3610103,995,299 - 104,132,639 (+)NCBI Archive
HuRef1097,637,542 - 97,775,465 (+)ENTREZGENE
CHM1_110104,288,779 - 104,426,082 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165085
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165086
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165087
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165088
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165089
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718047   ⟹   XP_006718110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718049   ⟹   XP_006718112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540312   ⟹   XP_011538614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540313   ⟹   XP_011538615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,379,933 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540314   ⟹   XP_011538616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,359,273 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016861   ⟹   XP_016872350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425969   ⟹   XP_047281925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425970   ⟹   XP_047281926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425971   ⟹   XP_047281927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425972   ⟹   XP_047281928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425973   ⟹   XP_047281929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425974   ⟹   XP_047281930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_047425975   ⟹   XP_047281931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,332,503 - 102,382,896 (+)NCBI
RefSeq Acc Id: XM_054367057   ⟹   XP_054223032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367058   ⟹   XP_054223033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367059   ⟹   XP_054223034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367060   ⟹   XP_054223035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367061   ⟹   XP_054223036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367062   ⟹   XP_054223037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367063   ⟹   XP_054223038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367064   ⟹   XP_054223039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367065   ⟹   XP_054223040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367066   ⟹   XP_054223041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367067   ⟹   XP_054223042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,217,476 - 103,267,847 (+)NCBI
RefSeq Acc Id: XM_054367068   ⟹   XP_054223043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,264,883 (+)NCBI
RefSeq Acc Id: XM_054367069   ⟹   XP_054223044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,244,254 - 103,267,847 (+)NCBI
RefSeq Acc Id: XR_001747253
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,370,477 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008488306
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010103,130,520 - 103,255,458 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378851 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378854 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378857 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378859 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378860 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397956 (Get FASTA)   NCBI Sequence Viewer  
  NP_004184 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718110 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718112 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538614 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538615 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538616 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872350 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281925 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281926 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281927 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223044 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD15903 (Get FASTA)   NCBI Sequence Viewer  
  AAH07941 (Get FASTA)   NCBI Sequence Viewer  
  AAH14171 (Get FASTA)   NCBI Sequence Viewer  
  AAH32543 (Get FASTA)   NCBI Sequence Viewer  
  AAH94763 (Get FASTA)   NCBI Sequence Viewer  
  AAI17682 (Get FASTA)   NCBI Sequence Viewer  
  AAI17683 (Get FASTA)   NCBI Sequence Viewer  
  BAA13379 (Get FASTA)   NCBI Sequence Viewer  
  EAW49707 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359000
  ENSP00000359000.4
  ENSP00000501064
  ENSP00000501064.1
  ENSP00000501233
  ENSP00000501233.1
  ENSP00000502850.1
  ENSP00000502877
  ENSP00000502877.1
  ENSP00000502896.1
  ENSP00000502897.1
  ENSP00000502906.1
  ENSP00000502942.1
  ENSP00000502947.1
  ENSP00000502953.1
  ENSP00000502966
  ENSP00000502966.1
  ENSP00000503042.1
  ENSP00000503048.1
  ENSP00000503054.1
  ENSP00000503097.1
  ENSP00000503103.1
  ENSP00000503137.1
  ENSP00000503160.1
  ENSP00000503165.1
  ENSP00000503172.1
  ENSP00000503189.1
  ENSP00000503195.1
  ENSP00000503207
  ENSP00000503207.1
  ENSP00000503220.1
  ENSP00000503225.1
  ENSP00000503230.1
  ENSP00000503258.1
  ENSP00000503266.1
  ENSP00000503272.1
  ENSP00000503288.1
  ENSP00000503311.1
  ENSP00000503346.1
  ENSP00000503357.1
  ENSP00000503380.1
  ENSP00000503391.1
  ENSP00000503428
  ENSP00000503428.1
  ENSP00000503451.1
  ENSP00000503508.1
  ENSP00000503529.1
  ENSP00000503557.1
  ENSP00000503565
  ENSP00000503565.1
  ENSP00000503597.1
  ENSP00000503609.1
  ENSP00000503655.1
  ENSP00000503764.1
  ENSP00000503784.1
  ENSP00000503788.1
  ENSP00000503918
  ENSP00000503918.1
  ENSP00000503919.1
  ENSP00000503928.1
  ENSP00000503966.1
  ENSP00000503981
  ENSP00000503981.1
  ENSP00000503983.1
  ENSP00000503984.1
  ENSP00000503988.1
  ENSP00000504013.1
  ENSP00000504014.1
  ENSP00000504021.1
  ENSP00000504092.1
  ENSP00000504111.1
  ENSP00000504116.1
  ENSP00000504117.1
  ENSP00000504119.1
  ENSP00000504136.1
  ENSP00000504175.1
  ENSP00000504189.1
  ENSP00000504200.1
  ENSP00000504207.1
  ENSP00000504214
  ENSP00000504214.1
  ENSP00000504243.1
  ENSP00000504256.1
  ENSP00000504307.1
  ENSP00000504372.1
  ENSP00000504432.1
  ENSP00000504437.1
  ENSP00000504485.1
  ENSP00000504549.1
  ENSP00000504556.1
  ENSP00000504631.1
  ENSP00000504632.1
  ENSP00000504669.1
  ENSP00000504689.1
  ENSP00000504695.1
  ENSP00000504700.1
  ENSP00000504793.1
  ENSP00000504811.1
  ENSP00000504832.1
GenBank Protein Q92538 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001186307   ⟸   NM_001199378
- Peptide Label: isoform 2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004184   ⟸   NM_004193
- Peptide Label: isoform 1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186308   ⟸   NM_001199379
- Peptide Label: isoform 3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718110   ⟸   XM_006718047
- Peptide Label: isoform X1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718112   ⟸   XM_006718049
- Peptide Label: isoform X2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538614   ⟸   XM_011540312
- Peptide Label: isoform X5
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538615   ⟸   XM_011540313
- Peptide Label: isoform X12
- UniProtKB: A0A7I2V4K2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538616   ⟸   XM_011540314
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016872350   ⟸   XM_017016861
- Peptide Label: isoform X3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001364070   ⟸   NM_001377141
- Peptide Label: isoform 1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364066   ⟸   NM_001377137
- Peptide Label: isoform 4
- UniProtKB: Q9H473 (UniProtKB/Swiss-Prot),   Q96HZ3 (UniProtKB/Swiss-Prot),   Q96CK6 (UniProtKB/Swiss-Prot),   Q92538 (UniProtKB/Swiss-Prot),   Q5VXX3 (UniProtKB/Swiss-Prot),   Q149P1 (UniProtKB/Swiss-Prot),   Q149P0 (UniProtKB/Swiss-Prot),   A0A7P0RGV0 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364067   ⟸   NM_001377138
- Peptide Label: isoform 5
- UniProtKB: A0A7I2V452 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364068   ⟸   NM_001377139
- Peptide Label: isoform 6
- UniProtKB: A0A7I2V2L5 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001364069   ⟸   NM_001377140
- Peptide Label: isoform 7
- UniProtKB: A0A7I2YQ65 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000501233   ⟸   ENST00000673650
RefSeq Acc Id: ENSP00000501064   ⟸   ENST00000674034
RefSeq Acc Id: ENSP00000359000   ⟸   ENST00000369983
RefSeq Acc Id: ENSP00000503918   ⟸   ENST00000676993
RefSeq Acc Id: ENSP00000504793   ⟸   ENST00000676985
RefSeq Acc Id: ENSP00000504243   ⟸   ENST00000676927
RefSeq Acc Id: ENSP00000503225   ⟸   ENST00000676934
RefSeq Acc Id: ENSP00000503981   ⟸   ENST00000676939
RefSeq Acc Id: ENSP00000504175   ⟸   ENST00000676900
RefSeq Acc Id: ENSP00000503391   ⟸   ENST00000676877
RefSeq Acc Id: ENSP00000503311   ⟸   ENST00000676861
RefSeq Acc Id: ENSP00000503195   ⟸   ENST00000676854
RefSeq Acc Id: ENSP00000504811   ⟸   ENST00000676735
RefSeq Acc Id: ENSP00000504111   ⟸   ENST00000676606
RefSeq Acc Id: ENSP00000503097   ⟸   ENST00000676682
RefSeq Acc Id: ENSP00000504200   ⟸   ENST00000676673
RefSeq Acc Id: ENSP00000503207   ⟸   ENST00000676513
RefSeq Acc Id: ENSP00000504119   ⟸   ENST00000676561
RefSeq Acc Id: ENSP00000502942   ⟸   ENST00000676558
RefSeq Acc Id: ENSP00000503988   ⟸   ENST00000676474
RefSeq Acc Id: ENSP00000503160   ⟸   ENST00000676482
RefSeq Acc Id: ENSP00000502850   ⟸   ENST00000677100
RefSeq Acc Id: ENSP00000504632   ⟸   ENST00000677017
RefSeq Acc Id: ENSP00000503557   ⟸   ENST00000677098
RefSeq Acc Id: ENSP00000503784   ⟸   ENST00000677504
RefSeq Acc Id: ENSP00000504669   ⟸   ENST00000677522
RefSeq Acc Id: ENSP00000504695   ⟸   ENST00000677491
RefSeq Acc Id: ENSP00000503357   ⟸   ENST00000677461
RefSeq Acc Id: ENSP00000503565   ⟸   ENST00000677439
RefSeq Acc Id: ENSP00000504013   ⟸   ENST00000677247
RefSeq Acc Id: ENSP00000504136   ⟸   ENST00000677269
RefSeq Acc Id: ENSP00000503428   ⟸   ENST00000677240
RefSeq Acc Id: ENSP00000504014   ⟸   ENST00000677947
RefSeq Acc Id: ENSP00000503597   ⟸   ENST00000677917
RefSeq Acc Id: ENSP00000502897   ⟸   ENST00000677842
RefSeq Acc Id: ENSP00000504372   ⟸   ENST00000677871
RefSeq Acc Id: ENSP00000503137   ⟸   ENST00000677838
RefSeq Acc Id: ENSP00000503380   ⟸   ENST00000677719
RefSeq Acc Id: ENSP00000504549   ⟸   ENST00000677776
RefSeq Acc Id: ENSP00000502896   ⟸   ENST00000677797
RefSeq Acc Id: ENSP00000502877   ⟸   ENST00000677618
RefSeq Acc Id: ENSP00000504307   ⟸   ENST00000677627
RefSeq Acc Id: ENSP00000503042   ⟸   ENST00000677683
RefSeq Acc Id: ENSP00000504432   ⟸   ENST00000677655
RefSeq Acc Id: ENSP00000504116   ⟸   ENST00000677642
RefSeq Acc Id: ENSP00000503788   ⟸   ENST00000677662
RefSeq Acc Id: ENSP00000504256   ⟸   ENST00000678014
RefSeq Acc Id: ENSP00000502947   ⟸   ENST00000678036
RefSeq Acc Id: ENSP00000503172   ⟸   ENST00000678007
RefSeq Acc Id: ENSP00000504117   ⟸   ENST00000678453
RefSeq Acc Id: ENSP00000503655   ⟸   ENST00000678476
RefSeq Acc Id: ENSP00000504485   ⟸   ENST00000678426
RefSeq Acc Id: ENSP00000503346   ⟸   ENST00000678344
RefSeq Acc Id: ENSP00000502966   ⟸   ENST00000678351
RefSeq Acc Id: ENSP00000503165   ⟸   ENST00000678319
RefSeq Acc Id: ENSP00000504021   ⟸   ENST00000678292
RefSeq Acc Id: ENSP00000504689   ⟸   ENST00000678293
RefSeq Acc Id: ENSP00000503048   ⟸   ENST00000678215
RefSeq Acc Id: ENSP00000503288   ⟸   ENST00000678126
RefSeq Acc Id: ENSP00000504207   ⟸   ENST00000678127
RefSeq Acc Id: ENSP00000503984   ⟸   ENST00000678806
RefSeq Acc Id: ENSP00000503508   ⟸   ENST00000678722
RefSeq Acc Id: ENSP00000504556   ⟸   ENST00000678742
RefSeq Acc Id: ENSP00000502953   ⟸   ENST00000678604
RefSeq Acc Id: ENSP00000503928   ⟸   ENST00000678665
RefSeq Acc Id: ENSP00000503764   ⟸   ENST00000678575
RefSeq Acc Id: ENSP00000504832   ⟸   ENST00000678530
RefSeq Acc Id: ENSP00000504437   ⟸   ENST00000678571
RefSeq Acc Id: ENSP00000504700   ⟸   ENST00000678558
RefSeq Acc Id: ENSP00000503983   ⟸   ENST00000678504
RefSeq Acc Id: ENSP00000504189   ⟸   ENST00000678527
RefSeq Acc Id: ENSP00000503272   ⟸   ENST00000678924
RefSeq Acc Id: ENSP00000503266   ⟸   ENST00000678923
RefSeq Acc Id: ENSP00000503609   ⟸   ENST00000679317
RefSeq Acc Id: ENSP00000503919   ⟸   ENST00000679305
RefSeq Acc Id: ENSP00000504214   ⟸   ENST00000679238
RefSeq Acc Id: ENSP00000503103   ⟸   ENST00000679253
RefSeq Acc Id: ENSP00000504092   ⟸   ENST00000679203
RefSeq Acc Id: ENSP00000503966   ⟸   ENST00000679288
RefSeq Acc Id: ENSP00000503451   ⟸   ENST00000679139
RefSeq Acc Id: ENSP00000503529   ⟸   ENST00000679155
RefSeq Acc Id: ENSP00000503220   ⟸   ENST00000679186
RefSeq Acc Id: ENSP00000503054   ⟸   ENST00000679013
RefSeq Acc Id: ENSP00000503258   ⟸   ENST00000679080
RefSeq Acc Id: ENSP00000502906   ⟸   ENST00000679084
RefSeq Acc Id: ENSP00000503230   ⟸   ENST00000679087
RefSeq Acc Id: ENSP00000503189   ⟸   ENST00000679093
RefSeq Acc Id: ENSP00000504631   ⟸   ENST00000679040
RefSeq Acc Id: NP_001378853   ⟸   NM_001391924
- Peptide Label: isoform 3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378852   ⟸   NM_001391923
- Peptide Label: isoform 2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378851   ⟸   NM_001391922
- Peptide Label: isoform 8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378855   ⟸   NM_001391926
- Peptide Label: isoform 10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378856   ⟸   NM_001391927
- Peptide Label: isoform 11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378859   ⟸   NM_001391930
- Peptide Label: isoform 14
- UniProtKB: A0A7I2V514 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378858   ⟸   NM_001391929
- Peptide Label: isoform 13
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378857   ⟸   NM_001391928
- Peptide Label: isoform 12
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378854   ⟸   NM_001391925
- Peptide Label: isoform 9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001378860   ⟸   NM_001391931
- Peptide Label: isoform 15
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281926   ⟸   XM_047425970
- Peptide Label: isoform X6
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281927   ⟸   XM_047425971
- Peptide Label: isoform X7
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281925   ⟸   XM_047425969
- Peptide Label: isoform X4
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281928   ⟸   XM_047425972
- Peptide Label: isoform X8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281930   ⟸   XM_047425974
- Peptide Label: isoform X10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281929   ⟸   XM_047425973
- Peptide Label: isoform X9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281931   ⟸   XM_047425975
- Peptide Label: isoform X11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397956   ⟸   NM_001411027
- Peptide Label: isoform 17
- UniProtKB: A0A669KBG8 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397932   ⟸   NM_001411003
- Peptide Label: isoform 16
- UniProtKB: A0A669KB10 (UniProtKB/TrEMBL),   A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223032   ⟸   XM_054367057
- Peptide Label: isoform X1
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223033   ⟸   XM_054367058
- Peptide Label: isoform X2
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223036   ⟸   XM_054367061
- Peptide Label: isoform X5
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223037   ⟸   XM_054367062
- Peptide Label: isoform X6
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223038   ⟸   XM_054367063
- Peptide Label: isoform X7
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223034   ⟸   XM_054367059
- Peptide Label: isoform X3
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223035   ⟸   XM_054367060
- Peptide Label: isoform X4
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223039   ⟸   XM_054367064
- Peptide Label: isoform X8
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223041   ⟸   XM_054367066
- Peptide Label: isoform X10
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223040   ⟸   XM_054367065
- Peptide Label: isoform X9
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223043   ⟸   XM_054367068
- Peptide Label: isoform X12
- UniProtKB: A0A7I2V4K2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223042   ⟸   XM_054367067
- Peptide Label: isoform X11
- UniProtKB: A0A7I2YQM2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223044   ⟸   XM_054367069
- Peptide Label: isoform X13
Protein Domains
Mon2/Sec7/BIG1-like HUS   SEC7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92538-F1-model_v2 AlphaFold Q92538 1-1859 view protein structure

Promoters
RGD ID:7218507
Promoter ID:EPDNEW_H14999
Type:initiation region
Name:GBF1_1
Description:golgi brefeldin A resistant guanine nucleotide exchange factor1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810102,245,532 - 102,245,592EPDNEW
RGD ID:6787733
Promoter ID:HG_KWN:10970
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:OTTHUMT00000050051,   UC001KUV.1,   UC001KUW.2,   UC001KUY.1,   UC001KUZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3610103,994,406 - 103,995,367 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4181 AgrOrtholog
COSMIC GBF1 COSMIC
Ensembl Genes ENSG00000107862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369983 ENTREZGENE
  ENST00000369983.5 UniProtKB/Swiss-Prot
  ENST00000673650 ENTREZGENE
  ENST00000673650.1 UniProtKB/TrEMBL
  ENST00000674034 ENTREZGENE
  ENST00000674034.1 UniProtKB/TrEMBL
  ENST00000676474.1 UniProtKB/TrEMBL
  ENST00000676482.1 UniProtKB/TrEMBL
  ENST00000676513 ENTREZGENE
  ENST00000676513.1 UniProtKB/Swiss-Prot
  ENST00000676558.1 UniProtKB/TrEMBL
  ENST00000676561.1 UniProtKB/TrEMBL
  ENST00000676606.1 UniProtKB/TrEMBL
  ENST00000676673.1 UniProtKB/TrEMBL
  ENST00000676682 ENTREZGENE
  ENST00000676682.1 UniProtKB/TrEMBL
  ENST00000676735.1 UniProtKB/TrEMBL
  ENST00000676807 ENTREZGENE
  ENST00000676854.1 UniProtKB/TrEMBL
  ENST00000676861.1 UniProtKB/TrEMBL
  ENST00000676877.1 UniProtKB/TrEMBL
  ENST00000676900.1 UniProtKB/TrEMBL
  ENST00000676927.1 UniProtKB/TrEMBL
  ENST00000676934.1 UniProtKB/TrEMBL
  ENST00000676939 ENTREZGENE
  ENST00000676939.1 UniProtKB/Swiss-Prot
  ENST00000676985.1 UniProtKB/TrEMBL
  ENST00000676993 ENTREZGENE
  ENST00000676993.1 UniProtKB/Swiss-Prot
  ENST00000677017.1 UniProtKB/TrEMBL
  ENST00000677098.1 UniProtKB/TrEMBL
  ENST00000677100.1 UniProtKB/TrEMBL
  ENST00000677240 ENTREZGENE
  ENST00000677240.1 UniProtKB/Swiss-Prot
  ENST00000677247.1 UniProtKB/TrEMBL
  ENST00000677269.1 UniProtKB/TrEMBL
  ENST00000677439 ENTREZGENE
  ENST00000677439.1 UniProtKB/TrEMBL
  ENST00000677461.1 UniProtKB/TrEMBL
  ENST00000677491.1 UniProtKB/TrEMBL
  ENST00000677504.1 UniProtKB/TrEMBL
  ENST00000677522.1 UniProtKB/TrEMBL
  ENST00000677618 ENTREZGENE
  ENST00000677618.1 UniProtKB/TrEMBL
  ENST00000677627.1 UniProtKB/TrEMBL
  ENST00000677642.1 UniProtKB/TrEMBL
  ENST00000677655 ENTREZGENE
  ENST00000677655.1 UniProtKB/TrEMBL
  ENST00000677662.1 UniProtKB/TrEMBL
  ENST00000677683.1 UniProtKB/TrEMBL
  ENST00000677719.1 UniProtKB/TrEMBL
  ENST00000677776.1 UniProtKB/TrEMBL
  ENST00000677797.1 UniProtKB/TrEMBL
  ENST00000677838.1 UniProtKB/TrEMBL
  ENST00000677842.1 UniProtKB/TrEMBL
  ENST00000677871.1 UniProtKB/TrEMBL