F7 (coagulation factor VII) - Rat Genome Database

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Gene: F7 (coagulation factor VII) Homo sapiens
Analyze
Symbol: F7
Name: coagulation factor VII
RGD ID: 1345586
HGNC Page HGNC
Description: Contributes to serine-type endopeptidase activity. Involved in several processes, including blood coagulation; positive regulation of chemotaxis; and positive regulation of signal transduction. Part of serine-type peptidase complex. Implicated in several diseases, including acute pancreatitis; artery disease (multiple); diabetes mellitus (multiple); factor VII deficiency; and obesity. Biomarker of several diseases, including angioedema (multiple); artery disease (multiple); diabetic neuropathy; glucose metabolism disease (multiple); and kidney disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: coagulation factor VII (serum prothrombin conversion accelerator); eptacog alfa; FVII coagulation protein; FVIIa; proconvertin; serum prothrombin conversion accelerator; SPCA
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
GRCh38.p13 Ensembl13113,105,788 - 113,120,685 (+)EnsemblGRCh38hg38GRCh38
GRCh3813113,105,773 - 113,120,685 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713113,760,102 - 113,774,999 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,808,106 - 112,822,996 (+)NCBINCBI36hg18NCBI36
Build 3413112,808,105 - 112,822,346NCBI
Celera1394,585,687 - 94,600,980 (+)NCBI
Cytogenetic Map13q34NCBI
HuRef1394,198,534 - 94,213,700 (+)NCBIHuRef
CHM1_113113,728,824 - 113,743,117 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acquired angioedema  (IEP)
acute pancreatitis  (IDA)
Albuminuria  (IEP)
Angina, Stable  (IEP)
Animal Disease Models  (EXP)
Arterial Thrombosis  (IDA,ISO)
arteriosclerosis  (IEP)
asthma  (ISO)
bilirubin metabolic disorder  (ISO)
blood coagulation disease  (IAGP)
breast cancer  (IEP)
Cerebral Hemorrhage  (EXP,IDA)
cerebral infarction  (IDA,IEP)
Choroidal Neovascularization  (ISO)
Chronic Allograft Dysfunction  (IDA)
colorectal cancer  (IMP)
Colorectal Neoplasms  (IEP)
coronary artery disease  (IAGP,IEP)
diabetes mellitus  (IEP,ISO)
diabetic neuropathy  (IEP)
diabetic retinopathy  (IEP)
disseminated intravascular coagulation  (EXP)
Endotoxemia  (ISO)
Experimental Diabetes Mellitus  (ISO)
Extrahepatic Portal Vein Obstruction  (ISO)
factor VII deficiency  (EXP,IAGP)
factor X deficiency  (IAGP)
familial hyperlipidemia  (ISO)
Glandular and Epithelial Neoplasms  (ISO)
Hematuria  (EXP)
Hemorrhage  (EXP)
hemorrhagic disease  (EXP,IAGP)
hereditary angioedema  (IEP)
hyperglycemia  (IEP)
hypertension  (IDA,IEP,ISO)
Hypertriglyceridemia  (IEP)
hypothyroidism  (ISO)
Inherited Blood Coagulation Disease  (IDA)
Insulin Resistance  (IEP)
intermediate coronary syndrome  (IEP)
Intestinal Reperfusion Injury  (IMP)
Intracranial Hemorrhage, Traumatic  (EXP)
Intracranial Hemorrhages  (EXP)
kidney disease  (IEP)
myocardial infarction  (EXP,IAGP,IEP)
obesity  (IDA,IEP)
ovarian cancer  (IEP)
Postoperative Complications  (EXP)
proteinuria  (IEP)
prothrombin deficiency  (ISO)
Sepsis  (IEP,ISO)
Smoke Inhalation Injury  (ISO)
Subdural Hematoma, Acute  (EXP)
thrombocytopenia  (IAGP,IDA)
Thromboembolism  (EXP)
type 1 diabetes mellitus  (IAGP,IDA,IEP)
type 2 diabetes mellitus  (IDA,IEP,ISO)
Venous Thrombosis  (EXP,ISO)

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

Cellular Component

Molecular Function

References

References - curated
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58. OMIM Disease Annotation Pipeline
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64. Pipeline to import KEGG annotations from KEGG into RGD
65. Pipeline to import SMPDB annotations from SMPDB into RGD
66. Reed MD, etal., Inhal Toxicol. 2004 Apr;16(4):177-93.
67. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
68. RGD automated import pipeline for gene-chemical interactions
69. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
70. Scharrer I Haemophilia. 1999 Jul;5(4):253-9.
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74. Szalony JA, etal., J Thromb Thrombolysis. 2002 Oct;14(2):113-21.
75. Tang JQ, etal., Chin Med J (Engl). 2010 Dec;123(24):3559-65.
76. Tomasiuk R, etal., Neoplasma. 1989;36(2):179-84.
77. Vambergue A, etal., Thromb Res. 2001 Mar 1;101(5):367-75.
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79. van Wersch JW Int J Clin Lab Res. 1993;23(4):221-4.
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82. Zerbib P, etal., J Surg Res. 2009 May 15;153(2):239-45. doi: 10.1016/j.jss.2008.05.014. Epub 2008 Jun 11.
Additional References at PubMed
PMID:1904059   PMID:2070047   PMID:2129367   PMID:2248955   PMID:2271516   PMID:2511201   PMID:3037537   PMID:3264725   PMID:3455766   PMID:3486420   PMID:3487272   PMID:3527261  
PMID:7559437   PMID:7598447   PMID:7814421   PMID:7860081   PMID:7974346   PMID:7981691   PMID:7989361   PMID:8204879   PMID:8242057   PMID:8364544   PMID:8576177   PMID:8598903  
PMID:8632006   PMID:8639673   PMID:8647260   PMID:8652821   PMID:8844208   PMID:8883260   PMID:8940045   PMID:9242537   PMID:9414278   PMID:9576180   PMID:9692950   PMID:9819044  
PMID:9925787   PMID:10026263   PMID:10391209   PMID:10419671   PMID:10430872   PMID:10544046   PMID:10692465   PMID:10862079   PMID:10877552   PMID:10984565   PMID:11044420   PMID:11091194  
PMID:11129332   PMID:11279932   PMID:11397354   PMID:11470437   PMID:11555697   PMID:11560488   PMID:11562337   PMID:11593034   PMID:11698657   PMID:11776298   PMID:11848442   PMID:11858478  
PMID:11858502   PMID:11916081   PMID:11920218   PMID:11931672   PMID:11943935   PMID:12019261   PMID:12038786   PMID:12082592   PMID:12083486   PMID:12091048   PMID:12135351   PMID:12141403  
PMID:12151156   PMID:12152682   PMID:12152685   PMID:12208482   PMID:12358603   PMID:12428089   PMID:12428092   PMID:12446192   PMID:12477932   PMID:12482354   PMID:12486862   PMID:12506121  
PMID:12524237   PMID:12529745   PMID:12579498   PMID:12615788   PMID:12616980   PMID:12676783   PMID:12738672   PMID:12768436   PMID:12787023   PMID:12851844   PMID:12859287   PMID:12871323  
PMID:12871370   PMID:12871600   PMID:12888866   PMID:12903033   PMID:12935410   PMID:12941034   PMID:14521602   PMID:14592825   PMID:14691565   PMID:14746139   PMID:14750502   PMID:14756558  
PMID:14766762   PMID:14963283   PMID:15016732   PMID:15057823   PMID:15081566   PMID:15170085   PMID:15173027   PMID:15174051   PMID:15175795   PMID:15182581   PMID:15213840   PMID:15304047  
PMID:15339682   PMID:15351850   PMID:15351855   PMID:15386437   PMID:15452029   PMID:15456489   PMID:15469874   PMID:15522303   PMID:15543320   PMID:15590402   PMID:15604416   PMID:15613046  
PMID:15616124   PMID:15621215   PMID:15632123   PMID:15634274   PMID:15634284   PMID:15664864   PMID:15711754   PMID:15718364   PMID:15735789   PMID:15735798   PMID:15835921   PMID:15837082  
PMID:15842358   PMID:15869604   PMID:15893284   PMID:15952268   PMID:15968393   PMID:15968394   PMID:15978118   PMID:16049588   PMID:16091654   PMID:16100725   PMID:16194204   PMID:16204244  
PMID:16236263   PMID:16292673   PMID:16331575   PMID:16344560   PMID:16353042   PMID:16363246   PMID:16472842   PMID:16510984   PMID:16529959   PMID:16532678   PMID:16543963   PMID:16556685  
PMID:16580898   PMID:16596941   PMID:16614319   PMID:16676068   PMID:16687401   PMID:16712791   PMID:16807660   PMID:16835245   PMID:16839353   PMID:16882823   PMID:16914903   PMID:16948532  
PMID:17003923   PMID:17008590   PMID:17018600   PMID:17044869   PMID:17048007   PMID:17059418   PMID:17092304   PMID:17200119   PMID:17202767   PMID:17287630   PMID:17292373   PMID:17327234  
PMID:17384202   PMID:17403098   PMID:17440998   PMID:17456045   PMID:17459125   PMID:17470200   PMID:17488662   PMID:17581323   PMID:17596133   PMID:17606459   PMID:17663738   PMID:17675296  
PMID:17692102   PMID:17849063   PMID:17880564   PMID:17883708   PMID:17890943   PMID:17901076   PMID:17903294   PMID:17938795   PMID:17938822   PMID:17991872   PMID:18000603   PMID:18000604  
PMID:18030173   PMID:18031796   PMID:18064331   PMID:18156490   PMID:18180609   PMID:18182033   PMID:18220034   PMID:18253477   PMID:18267072   PMID:18284606   PMID:18292408   PMID:18292410  
PMID:18325076   PMID:18398422   PMID:18403734   PMID:18433457   PMID:18457169   PMID:18473114   PMID:18513389   PMID:18556408   PMID:18608122   PMID:18612104   PMID:18612547   PMID:18640965  
PMID:18642129   PMID:18690338   PMID:18766253   PMID:18818748   PMID:18927546   PMID:18974842   PMID:18976247   PMID:18977990   PMID:19019335   PMID:19131662   PMID:19150996   PMID:19167313  
PMID:19238444   PMID:19263529   PMID:19323053   PMID:19336475   PMID:19387626   PMID:19404533   PMID:19404551   PMID:19415820   PMID:19432927   PMID:19474452   PMID:19479237   PMID:19524011  
PMID:19527514   PMID:19536895   PMID:19559392   PMID:19560472   PMID:19578796   PMID:19587380   PMID:19601987   PMID:19615732   PMID:19652895   PMID:19686262   PMID:19729601   PMID:19751712  
PMID:19778283   PMID:19781705   PMID:19822353   PMID:19829668   PMID:19913121   PMID:19953488   PMID:19958090   PMID:19959538   PMID:20036902   PMID:20044773   PMID:20059471   PMID:20086294  
PMID:20107938   PMID:20140262   PMID:20149073   PMID:20153024   PMID:20153879   PMID:20156643   PMID:20156644   PMID:20161734   PMID:20163832   PMID:20197348   PMID:20213530   PMID:20227556  
PMID:20231535   PMID:20332763   PMID:20351643   PMID:20364300   PMID:20388709   PMID:20418241   PMID:20452482   PMID:20453637   PMID:20466994   PMID:20508904   PMID:20524980   PMID:20532885  
PMID:20536507   PMID:20586182   PMID:20589311   PMID:20589312   PMID:20589316   PMID:20628086   PMID:20634491   PMID:20651279   PMID:20673868   PMID:20708733   PMID:20735721   PMID:20735728  
PMID:20958793   PMID:21057703   PMID:21094984   PMID:21099211   PMID:21184651   PMID:21206266   PMID:21252088   PMID:21287501   PMID:21366858   PMID:21453389   PMID:21477332   PMID:21543928  
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PMID:22076613   PMID:22088413   PMID:22104068   PMID:22123573   PMID:22126652   PMID:22136731   PMID:22180436   PMID:22232927   PMID:22235940   PMID:22275370   PMID:22315437   PMID:22370814  
PMID:22372829   PMID:22426302   PMID:22628013   PMID:22703881   PMID:22815813   PMID:22848420   PMID:22873696   PMID:22875495   PMID:22931734   PMID:22932775   PMID:22958499   PMID:23050902  
PMID:23275237   PMID:23294934   PMID:23325480   PMID:23381943   PMID:23382263   PMID:23443559   PMID:23454357   PMID:23494077   PMID:23555015   PMID:23590660   PMID:23672839   PMID:23731332  
PMID:23879866   PMID:24048512   PMID:24344794   PMID:24382103   PMID:24469878   PMID:24617727   PMID:24763923   PMID:24998411   PMID:25033928   PMID:25037231   PMID:25104096   PMID:25163770  
PMID:25179312   PMID:25192599   PMID:25219139   PMID:25241761   PMID:25281742   PMID:25344622   PMID:25393858   PMID:25403348   PMID:25447311   PMID:25767893   PMID:25828579   PMID:25863091  
PMID:25891834   PMID:25925205   PMID:25973586   PMID:26169722   PMID:26408924   PMID:26540129   PMID:26694616   PMID:26727350   PMID:26765308   PMID:27061056   PMID:27215039   PMID:27350683  
PMID:27434295   PMID:27504943   PMID:27614059   PMID:28150568   PMID:28176610   PMID:28447100   PMID:28492702   PMID:28514442   PMID:28522609   PMID:28544373   PMID:28611215   PMID:28729433  
PMID:28801460   PMID:28834159   PMID:28887028   PMID:28935233   PMID:29112333   PMID:29246447   PMID:29246902   PMID:29452445   PMID:29669778   PMID:29737537   PMID:29870887   PMID:30208845  
PMID:30278561   PMID:30465841   PMID:30602199   PMID:30642921   PMID:30835350   PMID:30854979   PMID:31598947   PMID:31850724   PMID:32081704   PMID:32684587   PMID:32856552  


Genomics

Comparative Map Data
F7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13113,105,788 - 113,120,685 (+)EnsemblGRCh38hg38GRCh38
GRCh3813113,105,773 - 113,120,685 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713113,760,102 - 113,774,999 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,808,106 - 112,822,996 (+)NCBINCBI36hg18NCBI36
Build 3413112,808,105 - 112,822,346NCBI
Celera1394,585,687 - 94,600,980 (+)NCBI
Cytogenetic Map13q34NCBI
HuRef1394,198,534 - 94,213,700 (+)NCBIHuRef
CHM1_113113,728,824 - 113,743,117 (+)NCBICHM1_1
F7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39813,075,499 - 13,085,809 (+)NCBIGRCm39mm39
GRCm39 Ensembl813,076,034 - 13,085,809 (+)Ensembl
GRCm38813,025,506 - 13,035,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl813,026,034 - 13,035,809 (+)EnsemblGRCm38mm10GRCm38
MGSCv37813,026,034 - 13,035,809 (+)NCBIGRCm37mm9NCBIm37
MGSCv36813,026,023 - 13,035,786 (+)NCBImm8
Celera813,193,833 - 13,203,593 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.73NCBI
F7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21676,489,779 - 76,500,636 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1681,824,111 - 81,834,945 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01681,824,610 - 81,834,923 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01681,309,476 - 81,320,833 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41681,348,678 - 81,358,991 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11681,348,942 - 81,359,256 (-)NCBI
Celera1674,296,307 - 74,306,282 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
F7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955404680,594 - 693,665 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955404685,170 - 692,797 (-)NCBIChiLan1.0ChiLan1.0
F7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113113,315,868 - 113,329,995 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13113,315,868 - 113,329,995 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01394,246,694 - 94,261,133 (+)NCBIMhudiblu_PPA_v0panPan3
F7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,572,459 - 60,582,743 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,571,822 - 60,597,024 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2260,285,105 - 60,295,147 (+)NCBI
ROS_Cfam_1.02261,197,920 - 61,208,435 (+)NCBI
UMICH_Zoey_3.12260,696,588 - 60,706,712 (+)NCBI
UNSW_CanFamBas_1.02260,698,754 - 60,708,987 (+)NCBI
UU_Cfam_GSD_1.02260,729,611 - 60,740,074 (+)NCBI
F7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945195,436,780 - 195,446,532 (+)NCBI
SpeTri2.0NW_004936472505,751 - 515,375 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1178,512,158 - 78,518,671 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11178,512,389 - 78,518,668 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21186,217,112 - 86,223,394 (-)NCBISscrofa10.2Sscrofa10.2susScr3
F7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1391,109,864 - 91,122,707 (+)NCBI
ChlSab1.1 Ensembl391,110,380 - 91,123,327 (+)Ensembl
Vero_WHO_p1.0NW_02366604648,125,875 - 48,139,708 (+)NCBI
F7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624793780,057 - 788,105 (-)NCBI

Position Markers
GDB:180725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,752 - 113,772,193UniSTSGRCh37
Build 3613112,819,753 - 112,820,194RGDNCBI36
Celera1394,597,737 - 94,598,178RGD
Cytogenetic Map13q34UniSTS
HuRef1394,210,457 - 94,210,898UniSTS
GDB:181603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,797 - 113,770,172UniSTSGRCh37
Build 3613112,817,798 - 112,818,173RGDNCBI36
Celera1394,595,782 - 94,596,157RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,502 - 94,208,877UniSTS
GDB:182330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,052 - 113,773,363UniSTSGRCh37
Build 3613112,821,053 - 112,821,364RGDNCBI36
Celera1394,599,037 - 94,599,348RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,757 - 94,212,068UniSTS
GDB:196470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,716 - 113,760,287UniSTSGRCh37
Build 3613112,807,717 - 112,808,288RGDNCBI36
Celera1394,585,298 - 94,585,869RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,148 - 94,198,719UniSTS
GDB:210952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,937 - 113,770,155UniSTSGRCh37
Build 3613112,817,938 - 112,818,156RGDNCBI36
Celera1394,595,922 - 94,596,140RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,642 - 94,208,860UniSTS
PMC196491P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,930 - 113,760,108UniSTSGRCh37
Build 3613112,807,931 - 112,808,109RGDNCBI36
Celera1394,585,512 - 94,585,690RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,362 - 94,198,540UniSTS
F7_624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,537 - 113,774,416UniSTSGRCh37
Build 3613112,821,538 - 112,822,417RGDNCBI36
Celera1394,599,522 - 94,600,401RGD
HuRef1394,212,242 - 94,213,121UniSTS
ECD00121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,765,734 - 113,766,789UniSTSGRCh37
GRCh3713113,765,856 - 113,766,789UniSTSGRCh37
Build 3613112,813,735 - 112,814,790RGDNCBI36
Celera1394,591,841 - 94,592,774UniSTS
Celera1394,591,719 - 94,592,774RGD
HuRef1394,204,562 - 94,205,495UniSTS
HuRef1394,204,440 - 94,205,495UniSTS
ECD00913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,766,658 - 113,767,719UniSTSGRCh37
GRCh3713113,766,835 - 113,767,719UniSTSGRCh37
Build 3613112,814,659 - 112,815,720RGDNCBI36
Celera1394,592,820 - 94,593,704UniSTS
Celera1394,592,643 - 94,593,704RGD
HuRef1394,205,541 - 94,206,425UniSTS
HuRef1394,205,364 - 94,206,425UniSTS
ECD01194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,762,985 - 113,763,858UniSTSGRCh37
Build 3613112,810,986 - 112,811,859RGDNCBI36
HuRef1394,201,794 - 94,202,564UniSTS
ECD03249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,189 - 113,769,989UniSTSGRCh37
Build 3613112,817,190 - 112,817,990RGDNCBI36
Celera1394,595,174 - 94,595,974RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,894 - 94,208,694UniSTS
ECD03899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,754 - 113,772,534UniSTSGRCh37
Build 3613112,819,755 - 112,820,535RGDNCBI36
Celera1394,597,739 - 94,598,519RGD
Cytogenetic Map13q34UniSTS
HuRef1394,210,459 - 94,211,239UniSTS
ECD03938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,606 - 113,773,385UniSTSGRCh37
Build 3613112,820,607 - 112,821,386RGDNCBI36
Celera1394,598,591 - 94,599,370RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,311 - 94,212,090UniSTS
ECD04171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,113 - 113,770,885UniSTSGRCh37
Build 3613112,818,114 - 112,818,886RGDNCBI36
Celera1394,596,098 - 94,596,870RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,818 - 94,209,590UniSTS
ECD04454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,105 - 113,774,868UniSTSGRCh37
Build 3613112,822,106 - 112,822,869RGDNCBI36
Celera1394,600,090 - 94,600,853RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,810 - 94,213,573UniSTS
ECD07207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,992 - 113,771,679UniSTSGRCh37
Build 3613112,818,993 - 112,819,680RGDNCBI36
Celera1394,596,977 - 94,597,664RGD
Cytogenetic Map13q34UniSTS
HuRef1394,209,697 - 94,210,384UniSTS
ECD13118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,575 - 113,759,100UniSTSGRCh37
Build 3613112,806,576 - 112,807,101RGDNCBI36
Celera1394,584,144 - 94,584,669RGD
Cytogenetic Map13q34UniSTS
HuRef1394,196,994 - 94,197,519UniSTS
ECD13274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,767,857 - 113,768,378UniSTSGRCh37
Build 3613112,815,858 - 112,816,379RGDNCBI36
Celera1394,593,842 - 94,594,363RGD
Cytogenetic Map13q34UniSTS
HuRef1394,206,563 - 94,207,084UniSTS
ECD13753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,760,134 - 113,760,643UniSTSGRCh37
Build 3613112,808,135 - 112,808,644RGDNCBI36
Celera1394,585,716 - 94,586,225RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,566 - 94,199,075UniSTS
ECD13839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,545 - 113,760,052UniSTSGRCh37
Build 3613112,807,546 - 112,808,053RGDNCBI36
Celera1394,585,127 - 94,585,634RGD
Cytogenetic Map13q34UniSTS
HuRef1394,197,977 - 94,198,484UniSTS
ECD21117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,497 - 113,773,757UniSTSGRCh37
Build 3613112,821,498 - 112,821,758RGDNCBI36
Celera1394,599,482 - 94,599,742RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,202 - 94,212,462UniSTS
ECD23297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,459 - 113,768,651UniSTSGRCh37
Build 3613112,816,460 - 112,816,652RGDNCBI36
Celera1394,594,444 - 94,594,636RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,165 - 94,207,357UniSTS
REN18399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,119 - 113,758,365UniSTSGRCh37
Build 3613112,806,120 - 112,806,366RGDNCBI36
Celera1394,583,688 - 94,583,934RGD
Cytogenetic Map13q34UniSTS
HuRef1394,196,538 - 94,196,784UniSTS
REN18400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,345 - 113,758,607UniSTSGRCh37
Build 3613112,806,346 - 112,806,608RGDNCBI36
Celera1394,583,914 - 94,584,176RGD
Cytogenetic Map13q34UniSTS
HuRef1394,196,764 - 94,197,026UniSTS
REN18401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,598 - 113,758,854UniSTSGRCh37
Build 3613112,806,599 - 112,806,855RGDNCBI36
Celera1394,584,167 - 94,584,423RGD
Cytogenetic Map13q34UniSTS
HuRef1394,197,017 - 94,197,273UniSTS
REN18402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,839 - 113,759,104UniSTSGRCh37
Build 3613112,806,840 - 112,807,105RGDNCBI36
Celera1394,584,408 - 94,584,673RGD
Cytogenetic Map13q34UniSTS
HuRef1394,197,258 - 94,197,523UniSTS
REN18403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,995 - 113,759,219UniSTSGRCh37
Build 3613112,806,996 - 112,807,220RGDNCBI36
Celera1394,584,564 - 94,584,788RGD
Cytogenetic Map13q34UniSTS
HuRef1394,197,414 - 94,197,638UniSTS
REN18404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,455 - 113,759,685UniSTSGRCh37
Build 3613112,807,456 - 112,807,686RGDNCBI36
Celera1394,585,037 - 94,585,267RGD
Cytogenetic Map13q34UniSTS
HuRef1394,197,887 - 94,198,117UniSTS
REN18405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,655 - 113,759,894UniSTSGRCh37
Build 3613112,807,656 - 112,807,895RGDNCBI36
Celera1394,585,237 - 94,585,476RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,087 - 94,198,326UniSTS
REN18406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,759,872 - 113,760,099UniSTSGRCh37
Build 3613112,807,873 - 112,808,100RGDNCBI36
Celera1394,585,454 - 94,585,681RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,304 - 94,198,531UniSTS
REN18407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,760,076 - 113,760,343UniSTSGRCh37
Build 3613112,808,077 - 112,808,344RGDNCBI36
Celera1394,585,658 - 94,585,925RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,508 - 94,198,775UniSTS
REN18408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,760,323 - 113,760,548UniSTSGRCh37
Build 3613112,808,324 - 112,808,549RGDNCBI36
Celera1394,585,905 - 94,586,130RGD
Cytogenetic Map13q34UniSTS
HuRef1394,198,755 - 94,198,980UniSTS
REN18409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,760,526 - 113,760,780UniSTSGRCh37
Build 3613112,808,527 - 112,808,781RGDNCBI36
Cytogenetic Map13q34UniSTS
HuRef1394,198,958 - 94,199,212UniSTS
REN18410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,760,769 - 113,761,034UniSTSGRCh37
Build 3613112,808,770 - 112,809,035RGDNCBI36
Cytogenetic Map13q34UniSTS
HuRef1394,199,201 - 94,199,601UniSTS
REN18411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,761,012 - 113,761,255UniSTSGRCh37
Build 3613112,809,013 - 112,809,256RGDNCBI36
Celera1394,588,784 - 94,589,027RGD
Cytogenetic Map13q34UniSTS
HuRef1394,199,579 - 94,199,822UniSTS
REN18412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,761,235 - 113,761,483UniSTSGRCh37
Build 3613112,809,236 - 112,809,484RGDNCBI36
Celera1394,589,007 - 94,589,255RGD
Cytogenetic Map13q34UniSTS
HuRef1394,199,802 - 94,200,050UniSTS
REN18413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,761,268 - 113,761,504UniSTSGRCh37
Build 3613112,809,269 - 112,809,505RGDNCBI36
Celera1394,589,040 - 94,589,276RGD
Cytogenetic Map13q34UniSTS
HuRef1394,199,835 - 94,200,071UniSTS
REN18414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,763,480 - 113,763,707UniSTSGRCh37
Build 3613112,811,481 - 112,811,708RGDNCBI36
REN18415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,763,683 - 113,763,931UniSTSGRCh37
Build 3613112,811,684 - 112,811,932RGDNCBI36
Celera1394,589,668 - 94,589,916RGD
Cytogenetic Map13q34UniSTS
HuRef1394,202,389 - 94,202,637UniSTS
REN18416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,763,926 - 113,764,188UniSTSGRCh37
Build 3613112,811,927 - 112,812,189RGDNCBI36
Celera1394,589,911 - 94,590,173RGD
Cytogenetic Map13q34UniSTS
HuRef1394,202,632 - 94,202,894UniSTS
REN18417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,764,170 - 113,764,398UniSTSGRCh37
Build 3613112,812,171 - 112,812,399RGDNCBI36
Celera1394,590,155 - 94,590,383RGD
Cytogenetic Map13q34UniSTS
HuRef1394,202,876 - 94,203,104UniSTS
REN18418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,764,337 - 113,764,597UniSTSGRCh37
Build 3613112,812,338 - 112,812,598RGDNCBI36
Celera1394,590,322 - 94,590,582RGD
Cytogenetic Map13q34UniSTS
HuRef1394,203,043 - 94,203,303UniSTS
REN18419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,765,093 - 113,765,341UniSTSGRCh37
Build 3613112,813,094 - 112,813,342RGDNCBI36
Celera1394,591,078 - 94,591,326RGD
Cytogenetic Map13q34UniSTS
HuRef1394,203,799 - 94,204,047UniSTS
REN18420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,765,321 - 113,765,546UniSTSGRCh37
Build 3613112,813,322 - 112,813,547RGDNCBI36
Celera1394,591,306 - 94,591,531RGD
Cytogenetic Map13q34UniSTS
HuRef1394,204,027 - 94,204,252UniSTS
REN18421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,765,397 - 113,765,625UniSTSGRCh37
Build 3613112,813,398 - 112,813,626RGDNCBI36
Celera1394,591,382 - 94,591,610RGD
Cytogenetic Map13q34UniSTS
HuRef1394,204,103 - 94,204,331UniSTS
REN18422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,766,296 - 113,766,528UniSTSGRCh37
GRCh3713113,766,296 - 113,766,700UniSTSGRCh37
Build 3613112,814,297 - 112,814,529RGDNCBI36
Celera1394,592,281 - 94,592,685UniSTS
Celera1394,592,281 - 94,592,513RGD
HuRef1394,205,002 - 94,205,406UniSTS
HuRef1394,205,002 - 94,205,234UniSTS
REN18423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,766,309 - 113,766,537UniSTSGRCh37
GRCh3713113,766,309 - 113,767,046UniSTSGRCh37
Build 3613112,814,310 - 112,814,538RGDNCBI36
Celera1394,592,294 - 94,593,031UniSTS
Celera1394,592,294 - 94,592,522RGD
Cytogenetic Map13q34UniSTS
HuRef1394,205,015 - 94,205,752UniSTS
HuRef1394,205,015 - 94,205,243UniSTS
REN18424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,767,340 - 113,767,595UniSTSGRCh37
GRCh3713113,766,849 - 113,767,595UniSTSGRCh37
Build 3613112,815,341 - 112,815,596RGDNCBI36
Celera1394,592,834 - 94,593,580UniSTS
Celera1394,593,325 - 94,593,580RGD
Cytogenetic Map13q34UniSTS
HuRef1394,205,555 - 94,206,301UniSTS
HuRef1394,206,046 - 94,206,301UniSTS
REN18425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,767,578 - 113,767,827UniSTSGRCh37
Build 3613112,815,579 - 112,815,828RGDNCBI36
Celera1394,593,563 - 94,593,812RGD
Cytogenetic Map13q34UniSTS
HuRef1394,206,284 - 94,206,533UniSTS
REN18426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,767,803 - 113,768,055UniSTSGRCh37
Build 3613112,815,804 - 112,816,056RGDNCBI36
Celera1394,593,788 - 94,594,040RGD
Cytogenetic Map13q34UniSTS
HuRef1394,206,509 - 94,206,761UniSTS
REN18427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,048 - 113,768,280UniSTSGRCh37
Build 3613112,816,049 - 112,816,281RGDNCBI36
Celera1394,594,033 - 94,594,265RGD
Cytogenetic Map13q34UniSTS
HuRef1394,206,754 - 94,206,986UniSTS
REN18428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,260 - 113,768,498UniSTSGRCh37
Build 3613112,816,261 - 112,816,499RGDNCBI36
Celera1394,594,245 - 94,594,483RGD
Cytogenetic Map13q34UniSTS
HuRef1394,206,966 - 94,207,204UniSTS
REN18429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,457 - 113,768,721UniSTSGRCh37
Build 3613112,816,458 - 112,816,722RGDNCBI36
Celera1394,594,442 - 94,594,706RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,163 - 94,207,426UniSTS
REN18430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,698 - 113,768,964UniSTSGRCh37
Build 3613112,816,699 - 112,816,965RGDNCBI36
Celera1394,594,683 - 94,594,949RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,403 - 94,207,669UniSTS
REN18431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,958 - 113,769,227UniSTSGRCh37
Build 3613112,816,959 - 112,817,228RGDNCBI36
Celera1394,594,943 - 94,595,212RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,663 - 94,207,932UniSTS
REN18432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,209 - 113,769,463UniSTSGRCh37
Build 3613112,817,210 - 112,817,464RGDNCBI36
Celera1394,595,194 - 94,595,448RGD
Cytogenetic Map13q34UniSTS
HuRef1394,207,914 - 94,208,168UniSTS
REN18433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,423 - 113,769,647UniSTSGRCh37
Build 3613112,817,424 - 112,817,648RGDNCBI36
Celera1394,595,408 - 94,595,632RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,128 - 94,208,352UniSTS
REN18434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,610 - 113,769,864UniSTSGRCh37
Build 3613112,817,611 - 112,817,865RGDNCBI36
Celera1394,595,595 - 94,595,849RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,315 - 94,208,569UniSTS
REN18435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,853 - 113,770,093UniSTSGRCh37
Build 3613112,817,854 - 112,818,094RGDNCBI36
Celera1394,595,838 - 94,596,078RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,558 - 94,208,798UniSTS
REN18436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,065 - 113,770,301UniSTSGRCh37
Build 3613112,818,066 - 112,818,302RGDNCBI36
Celera1394,596,050 - 94,596,286RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,770 - 94,209,006UniSTS
REN18437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,278 - 113,770,524UniSTSGRCh37
Build 3613112,818,279 - 112,818,525RGDNCBI36
Celera1394,596,263 - 94,596,509RGD
Cytogenetic Map13q34UniSTS
HuRef1394,208,983 - 94,209,229UniSTS
REN18438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,505 - 113,770,778UniSTSGRCh37
Build 3613112,818,506 - 112,818,779RGDNCBI36
Celera1394,596,490 - 94,596,763RGD
Cytogenetic Map13q34UniSTS
HuRef1394,209,210 - 94,209,483UniSTS
REN18439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,770,767 - 113,771,019UniSTSGRCh37
Build 3613112,818,768 - 112,819,020RGDNCBI36
Celera1394,596,752 - 94,597,004RGD
Cytogenetic Map13q34UniSTS
HuRef1394,209,472 - 94,209,724UniSTS
REN18440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,013 - 113,771,261UniSTSGRCh37
Build 3613112,819,014 - 112,819,262RGDNCBI36
Celera1394,596,998 - 94,597,246RGD
Cytogenetic Map13q34UniSTS
HuRef1394,209,718 - 94,209,966UniSTS
REN18441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,254 - 113,771,496UniSTSGRCh37
Build 3613112,819,255 - 112,819,497RGDNCBI36
Celera1394,597,239 - 94,597,481RGD
Cytogenetic Map13q34UniSTS
HuRef1394,209,959 - 94,210,201UniSTS
REN18442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,485 - 113,771,711UniSTSGRCh37
Build 3613112,819,486 - 112,819,712RGDNCBI36
Celera1394,597,470 - 94,597,696RGD
Cytogenetic Map13q34UniSTS
HuRef1394,210,190 - 94,210,416UniSTS
REN18445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,115 - 113,772,345UniSTSGRCh37
Build 3613112,820,116 - 112,820,346RGDNCBI36
Celera1394,598,100 - 94,598,330RGD
Cytogenetic Map13q34UniSTS
HuRef1394,210,820 - 94,211,050UniSTS
REN18446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,309 - 113,772,539UniSTSGRCh37
Build 3613112,820,310 - 112,820,540RGDNCBI36
Celera1394,598,294 - 94,598,524RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,014 - 94,211,244UniSTS
REN18447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,528 - 113,772,798UniSTSGRCh37
Build 3613112,820,529 - 112,820,799RGDNCBI36
Celera1394,598,513 - 94,598,783RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,233 - 94,211,503UniSTS
REN18448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,783 - 113,773,033UniSTSGRCh37
Build 3613112,820,784 - 112,821,034RGDNCBI36
Celera1394,598,768 - 94,599,018RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,488 - 94,211,738UniSTS
REN18449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,984 - 113,773,252UniSTSGRCh37
Build 3613112,820,985 - 112,821,253RGDNCBI36
Celera1394,598,969 - 94,599,237RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,689 - 94,211,957UniSTS
REN18450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,246 - 113,773,513UniSTSGRCh37
Build 3613112,821,247 - 112,821,514RGDNCBI36
Celera1394,599,231 - 94,599,498RGD
Cytogenetic Map13q34UniSTS
HuRef1394,211,951 - 94,212,218UniSTS
REN18451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,506 - 113,773,755UniSTSGRCh37
Build 3613112,821,507 - 112,821,756RGDNCBI36
Celera1394,599,491 - 94,599,740RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,211 - 94,212,460UniSTS
REN18452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,739 - 113,773,989UniSTSGRCh37
Build 3613112,821,740 - 112,821,990RGDNCBI36
Celera1394,599,724 - 94,599,974RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,444 - 94,212,694UniSTS
REN18453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,963 - 113,774,200UniSTSGRCh37
Build 3613112,821,964 - 112,822,201RGDNCBI36
Celera1394,599,948 - 94,600,185RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,668 - 94,212,905UniSTS
REN18454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,176 - 113,774,446UniSTSGRCh37
Build 3613112,822,177 - 112,822,447RGDNCBI36
Celera1394,600,161 - 94,600,431RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,881 - 94,213,151UniSTS
REN18455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,435 - 113,774,704UniSTSGRCh37
Build 3613112,822,436 - 112,822,705RGDNCBI36
Celera1394,600,420 - 94,600,689RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,140 - 94,213,409UniSTS
REN18456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,697 - 113,774,943UniSTSGRCh37
Build 3613112,822,698 - 112,822,944RGDNCBI36
Celera1394,600,682 - 94,600,928RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,402 - 94,213,648UniSTS
REN18457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,894 - 113,775,136UniSTSGRCh37
Build 3613112,822,895 - 112,823,137RGDNCBI36
Celera1394,600,879 - 94,601,121RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,599 - 94,213,841UniSTS
REN18458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,118 - 113,775,368UniSTSGRCh37
Build 3613112,823,119 - 112,823,369RGDNCBI36
Celera1394,601,103 - 94,601,353RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,823 - 94,214,073UniSTS
G15852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,731 - 113,773,903UniSTSGRCh37
GRCh3713113,773,731 - 113,774,085UniSTSGRCh37
Build 3613112,821,732 - 112,821,904RGDNCBI36
Celera1394,599,716 - 94,600,070UniSTS
Celera1394,599,716 - 94,599,888RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,436 - 94,212,790UniSTS
HuRef1394,212,436 - 94,212,608UniSTS
RH44950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,774,766 - 113,774,868UniSTSGRCh37
Build 3613112,822,767 - 112,822,869RGDNCBI36
Celera1394,600,751 - 94,600,853RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,471 - 94,213,573UniSTS
GeneMap99-GB4 RH Map13317.32UniSTS
NCBI RH Map131041.4UniSTS
stSG621972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,345 - 113,758,569UniSTSGRCh37
Build 3613112,806,346 - 112,806,570RGDNCBI36
Celera1394,583,914 - 94,584,138RGD
HuRef1394,196,764 - 94,196,988UniSTS
stSG621973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,758,575 - 113,759,670UniSTSGRCh37
Build 3613112,806,576 - 112,807,671RGDNCBI36
Celera1394,584,144 - 94,585,252RGD
HuRef1394,196,994 - 94,198,102UniSTS
stSG621980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,767,613 - 113,768,612UniSTSGRCh37
Build 3613112,815,614 - 112,816,613RGDNCBI36
Celera1394,593,598 - 94,594,597RGD
HuRef1394,206,319 - 94,207,318UniSTS
stSG621981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,768,593 - 113,769,789UniSTSGRCh37
Build 3613112,816,594 - 112,817,790RGDNCBI36
Celera1394,594,578 - 94,595,774RGD
HuRef1394,207,299 - 94,208,494UniSTS
stSG621982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,769,770 - 113,771,195UniSTSGRCh37
Build 3613112,817,771 - 112,819,196RGDNCBI36
Celera1394,595,755 - 94,597,180RGD
HuRef1394,208,475 - 94,209,900UniSTS
stSG621983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,771,176 - 113,772,291UniSTSGRCh37
Build 3613112,819,177 - 112,820,292RGDNCBI36
Celera1394,597,161 - 94,598,276RGD
HuRef1394,209,881 - 94,210,996UniSTS
stSG621984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,772,272 - 113,773,356UniSTSGRCh37
Build 3613112,820,273 - 112,821,357RGDNCBI36
Celera1394,598,257 - 94,599,341RGD
HuRef1394,210,977 - 94,212,061UniSTS
stSG621985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,773,338 - 113,774,452UniSTSGRCh37
Build 3613112,821,339 - 112,822,453RGDNCBI36
Celera1394,599,323 - 94,600,437RGD
Cytogenetic Map13q34UniSTS
HuRef1394,212,043 - 94,213,157UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2190
Count of miRNA genes:878
Interacting mature miRNAs:1063
Transcripts:ENST00000346342, ENST00000375581, ENST00000444337, ENST00000473085, ENST00000479674, ENST00000541084
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 9 1 425 425 1 425 1 1 4 4
Low 309 93 288 64 117 16 957 142 1846 115 851 131 49 280 376 1
Below cutoff 1974 2422 947 125 948 12 2864 1761 1688 202 492 1299 115 900 1961 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001267554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_051961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF466933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI076552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY212252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS355169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB184045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ142911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF421855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF467242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF467243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF467244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU557239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U14580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000346342   ⟹   ENSP00000329546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,105,791 - 113,120,685 (+)Ensembl
RefSeq Acc Id: ENST00000375581   ⟹   ENSP00000364731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,105,807 - 113,120,681 (+)Ensembl
RefSeq Acc Id: ENST00000444337   ⟹   ENSP00000387669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,105,839 - 113,116,788 (+)Ensembl
RefSeq Acc Id: ENST00000473085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,110,679 - 113,114,903 (+)Ensembl
RefSeq Acc Id: ENST00000479674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,110,340 - 113,116,835 (+)Ensembl
RefSeq Acc Id: ENST00000541084   ⟹   ENSP00000442051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13113,105,788 - 113,120,678 (+)Ensembl
RefSeq Acc Id: NM_000131   ⟹   NP_000122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,788 - 113,120,681 (+)NCBI
GRCh3713113,760,102 - 113,774,995 (+)NCBI
Build 3613112,808,106 - 112,822,996 (+)NCBI Archive
HuRef1394,198,534 - 94,213,700 (+)NCBI
CHM1_113113,728,824 - 113,743,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001267554   ⟹   NP_001254483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,791 - 113,120,685 (+)NCBI
GRCh3713113,760,102 - 113,774,995 (+)NCBI
HuRef1394,198,534 - 94,213,700 (+)NCBI
CHM1_113113,728,824 - 113,743,117 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019616   ⟹   NP_062562
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,791 - 113,120,685 (+)NCBI
GRCh3713113,760,102 - 113,774,995 (+)NCBI
Build 3613112,808,106 - 112,822,996 (+)NCBI Archive
HuRef1394,198,534 - 94,213,700 (+)NCBI
CHM1_113113,728,824 - 113,743,117 (+)NCBI
Sequence:
RefSeq Acc Id: NR_051961
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,791 - 113,120,685 (+)NCBI
GRCh3713113,760,102 - 113,774,995 (+)NCBI
HuRef1394,198,534 - 94,213,700 (+)NCBI
CHM1_113113,728,824 - 113,743,117 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719963   ⟹   XP_006720026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,773 - 113,120,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537474   ⟹   XP_011535776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,773 - 113,120,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537475   ⟹   XP_011535777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,773 - 113,120,681 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537476   ⟹   XP_011535778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,113,994 - 113,120,681 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001254483 (Get FASTA)   NCBI Sequence Viewer  
  NP_062562 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720026 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535776 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535777 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535778 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51983 (Get FASTA)   NCBI Sequence Viewer  
  AAA88040 (Get FASTA)   NCBI Sequence Viewer  
  AAA88041 (Get FASTA)   NCBI Sequence Viewer  
  AAC50211 (Get FASTA)   NCBI Sequence Viewer  
  AAI30469 (Get FASTA)   NCBI Sequence Viewer  
  AAL66184 (Get FASTA)   NCBI Sequence Viewer  
  AAP33841 (Get FASTA)   NCBI Sequence Viewer  
  AAQ94106 (Get FASTA)   NCBI Sequence Viewer  
  ABD17891 (Get FASTA)   NCBI Sequence Viewer  
  ABN79862 (Get FASTA)   NCBI Sequence Viewer  
  ABO20833 (Get FASTA)   NCBI Sequence Viewer  
  ABO20834 (Get FASTA)   NCBI Sequence Viewer  
  ACA06107 (Get FASTA)   NCBI Sequence Viewer  
  ACA06108 (Get FASTA)   NCBI Sequence Viewer  
  ACB87203 (Get FASTA)   NCBI Sequence Viewer  
  BAG60634 (Get FASTA)   NCBI Sequence Viewer  
  CAL24227 (Get FASTA)   NCBI Sequence Viewer  
  CCQ42967 (Get FASTA)   NCBI Sequence Viewer  
  EAX09182 (Get FASTA)   NCBI Sequence Viewer  
  EAX09183 (Get FASTA)   NCBI Sequence Viewer  
  P08709 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000122   ⟸   NM_000131
- Peptide Label: isoform a preproprotein
- UniProtKB: P08709 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_062562   ⟸   NM_019616
- Peptide Label: isoform b precursor
- UniProtKB: P08709 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001254483   ⟸   NM_001267554
- Peptide Label: isoform c precursor
- UniProtKB: B4DPM2 (UniProtKB/TrEMBL),   F5H8B0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720026   ⟸   XM_006719963
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011535776   ⟸   XM_011537474
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011535777   ⟸   XM_011537475
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011535778   ⟸   XM_011537476
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000442051   ⟸   ENST00000541084
RefSeq Acc Id: ENSP00000329546   ⟸   ENST00000346342
RefSeq Acc Id: ENSP00000364731   ⟸   ENST00000375581
RefSeq Acc Id: ENSP00000387669   ⟸   ENST00000444337
Protein Domains
EGF-like   Gla   Peptidase S1

Promoters
RGD ID:6790864
Promoter ID:HG_KWN:18633
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000045840,   OTTHUMT00000277052
Position:
Human AssemblyChrPosition (strand)Source
Build 3613112,812,596 - 112,813,096 (+)MPROMDB
RGD ID:7226873
Promoter ID:EPDNEW_H19183
Type:initiation region
Name:F7_1
Description:coagulation factor VII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,105,791 - 113,105,851EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
F7, ARG304GLN single nucleotide variant Factor VII Padua [RCV000012848] Chr13:13q34 pathogenic
C310F single nucleotide variant Factor VII deficiency [RCV000012849] Chr13:13q34 pathogenic
C178Y single nucleotide variant Factor VII deficiency [RCV000012850] Chr13:13q34 pathogenic
F7, ARG247HIS single nucleotide variant Factor VII deficiency [RCV000012851] Chr13:13q34 pathogenic
F7, THR359MET variation Factor VII deficiency [RCV000012852] Chr13:13q34 pathogenic
A244V single nucleotide variant Factor VII deficiency [RCV000012853] Chr13:13q34 pathogenic
F7, ASN57ASP single nucleotide variant Factor VII deficiency [RCV000012854] Chr13:13q34 pathogenic
F7, IVS4DS, G-A, +1 single nucleotide variant Factor VII deficiency [RCV000012855] Chr13:13q34 pathogenic
NM_019616.4(F7):c.38T>C (p.Leu13Pro) single nucleotide variant Factor VII deficiency [RCV000012856] Chr13:113105879 [GRCh38]
Chr13:113760193 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.995C>T (p.Ala332Val) single nucleotide variant Abnormal bleeding [RCV000851974]|Factor VII deficiency [RCV000012857]|not provided [RCV001091742] Chr13:113118668 [GRCh38]
Chr13:113772982 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_019616.4(F7):c.783_799del (p.Arg262fs) deletion Factor VII deficiency [RCV000012858] Chr13:113118456..113118472 [GRCh38]
Chr13:113772770..113772786 [GRCh37]
Chr13:13q34
pathogenic
F7, 1-BP DEL, 11128C deletion Factor VII deficiency [RCV000012859] Chr13:13q34 pathogenic
F7, 10-BP INS, NT-323 insertion Myocardial infarction, decreased susceptibility to [RCV000012860] Chr13:13q34 risk factor
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) single nucleotide variant Factor VII deficiency [RCV000396014]|Factor X deficiency [RCV000391182]|Myocardial infarction, decreased susceptibility to [RCV000012861]|not specified [RCV000250547] Chr13:113118845 [GRCh38]
Chr13:113773159 [GRCh37]
Chr13:13q34
risk factor|benign
F7, -61T-G single nucleotide variant Factor VII deficiency [RCV000012862] Chr13:13q34 pathogenic
F7, -94C-G single nucleotide variant Factor VII deficiency [RCV000012863] Chr13:13q34 pathogenic
F7, -55C-T single nucleotide variant Factor VII deficiency [RCV000012864] Chr13:13q34 pathogenic
C61* variation Factor VII deficiency [RCV000012865] Chr13:13q34 pathogenic
NM_019616.4(F7):c.1099T>G (p.Cys367Gly) single nucleotide variant Factor VII deficiency [RCV000012866] Chr13:113118772 [GRCh38]
Chr13:113773086 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.562C>T (p.Gln188Ter) single nucleotide variant Factor VII deficiency [RCV000012867] Chr13:113116822 [GRCh38]
Chr13:113771136 [GRCh37]
Chr13:13q34
pathogenic
E25K variation Factor VII deficiency [RCV000012868] Chr13:13q34 pathogenic
NM_019616.4(F7):c.1158T>G (p.His386Gln) single nucleotide variant Factor VII deficiency [RCV000012869] Chr13:113118831 [GRCh38]
Chr13:113773145 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
F7, GLY354CYS variation Factor VII deficiency [RCV000012870] Chr13:13q34 pathogenic
NM_019616.4(F7):c.917T>C (p.Phe306Ser) single nucleotide variant Factor VII deficiency [RCV000012871] Chr13:113118590 [GRCh38]
Chr13:113772904 [GRCh37]
Chr13:13q34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q34(chr13:113084152-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454] Chr13:113084152..114327173 [GRCh38]
Chr13:113738466..115085141 [GRCh37]
Chr13:112786467..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q34(chr13:112292922-113636272)x3 copy number gain See cases [RCV000053800] Chr13:112292922..113636272 [GRCh38]
Chr13:112947236..114290587 [GRCh37]
Chr13:111995237..113338588 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
NM_000131.4(F7):c.681+28C>T single nucleotide variant Malignant melanoma [RCV000070296] Chr13:113116903 [GRCh38]
Chr13:113771217 [GRCh37]
Chr13:112819218 [NCBI36]
Chr13:13q34
not provided
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34
likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) single nucleotide variant Factor VII deficiency [RCV000714620]|not provided [RCV000254994] Chr13:113118716 [GRCh38]
Chr13:113773030 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_000131.4(F7):c.806-20G>A single nucleotide variant not specified [RCV000242017] Chr13:113118393 [GRCh38]
Chr13:113772707 [GRCh37]
Chr13:13q34
benign
NM_000131.4(F7):c.64+9G>A single nucleotide variant Factor VII deficiency [RCV000261727]|not specified [RCV000247094] Chr13:113105914 [GRCh38]
Chr13:113760228 [GRCh37]
Chr13:13q34
benign
NM_019616.4(F7):c.459C>T (p.His153=) single nucleotide variant Factor VII deficiency [RCV000386256]|not specified [RCV000242307] Chr13:113115754 [GRCh38]
Chr13:113770068 [GRCh37]
Chr13:13q34
benign
NM_000131.4(F7):c.806-10T>C single nucleotide variant Factor VII deficiency [RCV001110403]|not provided [RCV000957295]|not specified [RCV000250246] Chr13:113118403 [GRCh38]
Chr13:113772717 [GRCh37]
Chr13:13q34
benign|likely benign|uncertain significance
NM_019616.4(F7):c.*284C>T single nucleotide variant Factor VII deficiency [RCV000300067] Chr13:113119292 [GRCh38]
Chr13:113773606 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1057C>T single nucleotide variant Factor VII deficiency [RCV000269031] Chr13:113120065 [GRCh38]
Chr13:113774379 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*605G>A single nucleotide variant Factor VII deficiency [RCV000288934] Chr13:113119613 [GRCh38]
Chr13:113773927 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*991G>A single nucleotide variant Factor VII deficiency [RCV000327609] Chr13:113119999 [GRCh38]
Chr13:113774313 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.682-11C>A single nucleotide variant Factor VII deficiency [RCV000294327] Chr13:113117462 [GRCh38]
Chr13:113771776 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1614A>C single nucleotide variant Factor VII deficiency [RCV000338027] Chr13:113120622 [GRCh38]
Chr13:113774936 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*340T>C single nucleotide variant Factor VII deficiency [RCV000316920] Chr13:113119348 [GRCh38]
Chr13:113773662 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1500_*1503del deletion Factor VII deficiency [RCV000280611] Chr13:113120505..113120508 [GRCh38]
Chr13:113774819..113774822 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1054C>A single nucleotide variant Factor VII deficiency [RCV000365851] Chr13:113120062 [GRCh38]
Chr13:113774376 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*294A>C single nucleotide variant Factor VII deficiency [RCV000260212] Chr13:113119302 [GRCh38]
Chr13:113773616 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.988G>A (p.Ala330Thr) single nucleotide variant Factor VII deficiency [RCV000345888] Chr13:113118661 [GRCh38]
Chr13:113772975 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.813G>A (p.Thr271=) single nucleotide variant Factor VII deficiency [RCV000346940]|not provided [RCV000995100] Chr13:113118486 [GRCh38]
Chr13:113772800 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.930G>A (p.Thr310=) single nucleotide variant Factor VII deficiency [RCV000396009] Chr13:113118603 [GRCh38]
Chr13:113772917 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*71T>A single nucleotide variant Factor VII deficiency [RCV000306121] Chr13:113119079 [GRCh38]
Chr13:113773393 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.937T>C (p.Phe313Leu) single nucleotide variant Factor VII deficiency [RCV000306848] Chr13:113118610 [GRCh38]
Chr13:113772924 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*909C>T single nucleotide variant Factor VII deficiency [RCV000275020] Chr13:113119917 [GRCh38]
Chr13:113774231 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*499G>A single nucleotide variant Factor VII deficiency [RCV000329600] Chr13:113119507 [GRCh38]
Chr13:113773821 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.219G>A (p.Glu73=) single nucleotide variant Factor VII deficiency [RCV000352674] Chr13:113110844 [GRCh38]
Chr13:113765158 [GRCh37]
Chr13:13q34
benign|likely benign
NM_019616.4(F7):c.*1475G>A single nucleotide variant Factor VII deficiency [RCV000377205] Chr13:113120483 [GRCh38]
Chr13:113774797 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.64+8C>T single nucleotide variant Factor VII deficiency [RCV000377427]|not provided [RCV000890086] Chr13:113105913 [GRCh38]
Chr13:113760227 [GRCh37]
Chr13:13q34
benign|likely benign
NM_019616.4(F7):c.*425C>T single nucleotide variant Factor VII deficiency [RCV000276912] Chr13:113119433 [GRCh38]
Chr13:113773747 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*285G>A single nucleotide variant Factor VII deficiency [RCV000357378] Chr13:113119293 [GRCh38]
Chr13:113773607 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*275G>A single nucleotide variant Factor VII deficiency [RCV000266085] Chr13:113119283 [GRCh38]
Chr13:113773597 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*410C>T single nucleotide variant Factor VII deficiency [RCV000387800] Chr13:113119418 [GRCh38]
Chr13:113773732 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.108G>A (p.Pro36=) single nucleotide variant Factor VII deficiency [RCV000319261]|not provided [RCV000881748] Chr13:113106888 [GRCh38]
Chr13:113761202 [GRCh37]
Chr13:13q34
benign|likely benign
NM_019616.4(F7):c.*620C>T single nucleotide variant Factor VII deficiency [RCV000341545] Chr13:113119628 [GRCh38]
Chr13:113773942 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_019616.4(F7):c.*846_*850CTTCA[1] microsatellite Factor VII deficiency [RCV000314976] Chr13:113119854..113119858 [GRCh38]
Chr13:113774168..113774172 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*582C>T single nucleotide variant Factor VII deficiency [RCV000380864] Chr13:113119590 [GRCh38]
Chr13:113773904 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*673A>G single nucleotide variant Factor VII deficiency [RCV000395401]|Factor X deficiency [RCV000311125] Chr13:113119681 [GRCh38]
Chr13:113773995 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*82T>C single nucleotide variant Factor VII deficiency [RCV000358592]|Factor X deficiency [RCV000314515] Chr13:113119090 [GRCh38]
Chr13:113773404 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*1146A>G single nucleotide variant Factor VII deficiency [RCV000378506]|Factor X deficiency [RCV000317576] Chr13:113120154 [GRCh38]
Chr13:113774468 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*561_*562AT[1] microsatellite Factor VII deficiency [RCV000347217] Chr13:113119569..113119570 [GRCh38]
Chr13:113773883..113773884 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1649G>A single nucleotide variant Factor VII deficiency [RCV000404308]|Factor X deficiency [RCV000323234] Chr13:113120657 [GRCh38]
Chr13:113774971 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.103C>A (p.Arg35=) single nucleotide variant Factor VII deficiency [RCV000295368] Chr13:113110728 [GRCh38]
Chr13:113765042 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.-27C>T single nucleotide variant Factor VII deficiency [RCV000320519] Chr13:113105815 [GRCh38]
Chr13:113760129 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*628_*630del deletion Factor VII deficiency [RCV000406121] Chr13:113119634..113119636 [GRCh38]
Chr13:113773948..113773950 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*770G>A single nucleotide variant Factor VII deficiency [RCV000395405]|Factor X deficiency [RCV000356621] Chr13:113119778 [GRCh38]
Chr13:113774092 [GRCh37]
Chr13:13q34
benign
NM_019616.4(F7):c.*533A>C single nucleotide variant Factor VII deficiency [RCV000386699]|Factor X deficiency [RCV000369304] Chr13:113119541 [GRCh38]
Chr13:113773855 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*888G>A single nucleotide variant Factor VII deficiency [RCV000367187]|Factor X deficiency [RCV000262422] Chr13:113119896 [GRCh38]
Chr13:113774210 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*756_*770delinsCCA indel Factor VII deficiency [RCV000353498] Chr13:113119764..113119778 [GRCh38]
Chr13:113774078..113774092 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1275A>G single nucleotide variant Factor VII deficiency [RCV000320294]|Factor X deficiency [RCV000268240] Chr13:113120283 [GRCh38]
Chr13:113774597 [GRCh37]
Chr13:13q34
likely benign
NM_000131.4(F7):c.130+11A>T single nucleotide variant Factor VII deficiency [RCV000373534] Chr13:113106921 [GRCh38]
Chr13:113761235 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*672_*673CA[3] microsatellite Factor VII deficiency [RCV000340532] Chr13:113119680..113119681 [GRCh38]
Chr13:113773994..113773995 [GRCh37]
Chr13:13q34
uncertain significance
NM_000504.4(F10):c.-40C>T single nucleotide variant Factor VII deficiency [RCV000377919]|Factor X deficiency [RCV000279453] Chr13:113122816 [GRCh38]
Chr13:113777130 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*1077del deletion Factor VII deficiency [RCV000326476] Chr13:113120085 [GRCh38]
Chr13:113774399 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*639G>A single nucleotide variant Factor VII deficiency [RCV000283131]|Factor X deficiency [RCV000406253] Chr13:113119647 [GRCh38]
Chr13:113773961 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*1240C>G single nucleotide variant Factor VII deficiency [RCV000286328]|Factor X deficiency [RCV000353676] Chr13:113120248 [GRCh38]
Chr13:113774562 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.*543A>G single nucleotide variant Factor VII deficiency [RCV000290034] Chr13:113119551 [GRCh38]
Chr13:113773865 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*703_*704AC[3] microsatellite Factor VII deficiency [RCV000301013] Chr13:113119710..113119713 [GRCh38]
Chr13:113774024..113774027 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.1219G>A (p.Ala407Thr) single nucleotide variant Factor VII deficiency [RCV000415275] Chr13:113118892 [GRCh38]
Chr13:113773206 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q34(chr13:113773532-113801772)x3 copy number gain See cases [RCV000449167] Chr13:113773532..113801772 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q34(chr13:113625366-114153873)x1 copy number loss See cases [RCV000446958] Chr13:113625366..114153873 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q34(chr13:113761168-113794870)x3 copy number gain See cases [RCV000446776] Chr13:113761168..113794870 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1 copy number loss See cases [RCV000445865] Chr13:111550457..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1 copy number loss See cases [RCV000448192] Chr13:112091743..115092510 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q34(chr13:113707657-115107733)x1 copy number loss See cases [RCV000448435] Chr13:113707657..115107733 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_019616.4(F7):c.1085C>T (p.Thr362Met) single nucleotide variant Factor VII deficiency [RCV001095705]|not provided [RCV000482463] Chr13:113118758 [GRCh38]
Chr13:113773072 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.739+7A>G single nucleotide variant Factor VII deficiency [RCV001110402]|not provided [RCV000995099]|not specified [RCV000455126] Chr13:113117603 [GRCh38]
Chr13:113771917 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) single nucleotide variant Factor VII deficiency [RCV000779130]|not provided [RCV000479479] Chr13:113118698 [GRCh38]
Chr13:113773012 [GRCh37]
Chr13:13q34
pathogenic|other
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000131.4(F7):c.64+4C>T single nucleotide variant Factor VII deficiency [RCV001113048]|not specified [RCV000609151] Chr13:113105909 [GRCh38]
Chr13:113760223 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_000131.4(F7):c.64+5G>A single nucleotide variant not provided [RCV000513469] Chr13:113105910 [GRCh38]
Chr13:113760224 [GRCh37]
Chr13:13q34
likely pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1 copy number loss not provided [RCV000683558] Chr13:112530842..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q34(chr13:113558598-113800840)x3 copy number gain not provided [RCV000845603] Chr13:113558598..113800840 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.781C>T (p.Arg261Trp) single nucleotide variant Abnormality of coagulation [RCV000851899]|not provided [RCV001300132] Chr13:113118454 [GRCh38]
Chr13:113772768 [GRCh37]
Chr13:13q34
pathogenic|uncertain significance
NM_019616.4(F7):c.1094T>C (p.Met365Thr) single nucleotide variant Abnormal bleeding [RCV000851999]|Abnormality of coagulation [RCV000852000] Chr13:113118767 [GRCh38]
Chr13:113773081 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.523A>G (p.Lys175Glu) single nucleotide variant Abnormal bleeding [RCV000852164] Chr13:113116783 [GRCh38]
Chr13:113771097 [GRCh37]
Chr13:13q34
likely pathogenic
NM_000131.4(F7):c.-55C>T single nucleotide variant Factor VII deficiency [RCV000851624]|not provided [RCV001090436] Chr13:113105787 [GRCh38]
Chr13:113760101 [GRCh37]
Chr13:13q34
likely pathogenic|uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q34(chr13:113554752-113922447)x3 copy number gain not provided [RCV000738399] Chr13:113554752..113922447 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:113657867-113862801)x3 copy number gain not provided [RCV000738400] Chr13:113657867..113862801 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:113674576-113863183)x3 copy number gain not provided [RCV000738401] Chr13:113674576..113863183 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:113760034-113773995)x0 copy number loss not provided [RCV000750918] Chr13:113760034..113773995 [GRCh37]
Chr13:13q34
benign
NM_019616.4(F7):c.*1503C>T single nucleotide variant Factor VII deficiency [RCV001114616] Chr13:113120511 [GRCh38]
Chr13:113774825 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.225+1G>A single nucleotide variant not provided [RCV001090438] Chr13:113110851 [GRCh38]
Chr13:113765165 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.684C>T (p.Ser228=) single nucleotide variant not provided [RCV000899710] Chr13:113117541 [GRCh38]
Chr13:113771855 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV000995098] Chr13:113115747 [GRCh38]
Chr13:113770061 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.822G>A (p.Pro274=) single nucleotide variant Factor VII deficiency [RCV001111141]|not provided [RCV000995101] Chr13:113118495 [GRCh38]
Chr13:113772809 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.805+3_805+6del microsatellite Factor VII deficiency [RCV000779129]|not provided [RCV001091741] Chr13:113117594..113117597 [GRCh38]
Chr13:113771908..113771911 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_019616.4(F7):c.413A>G (p.Gln138Arg) single nucleotide variant Factor VII deficiency [RCV000779128] Chr13:113115708 [GRCh38]
Chr13:113770022 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.152T>A (p.Leu51Gln) single nucleotide variant Factor VII deficiency [RCV000852075] Chr13:113110777 [GRCh38]
Chr13:113765091 [GRCh37]
Chr13:13q34
likely pathogenic
NM_000131.4(F7):c.805+5G>A single nucleotide variant Factor VII deficiency [RCV000851894] Chr13:113117601 [GRCh38]
Chr13:113771915 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.64+941C>T single nucleotide variant Factor VII deficiency [RCV001114433]|not provided [RCV001311352] Chr13:113106846 [GRCh38]
Chr13:113761160 [GRCh37]
Chr13:13q34
benign|likely benign
NM_000131.4(F7):c.430+1G>A single nucleotide variant Factor VII deficiency [RCV000852127] Chr13:113113961 [GRCh38]
Chr13:113768275 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.*1364G>A single nucleotide variant Factor VII deficiency [RCV001114613] Chr13:113120372 [GRCh38]
Chr13:113774686 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1281G>A single nucleotide variant Factor VII deficiency [RCV001114611] Chr13:113120289 [GRCh38]
Chr13:113774603 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34
not provided
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q34(chr13:113683358-113782136)x3 copy number gain not provided [RCV000846418] Chr13:113683358..113782136 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*498C>T single nucleotide variant Factor VII deficiency [RCV001114520] Chr13:113119506 [GRCh38]
Chr13:113773820 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
NM_019616.4(F7):c.656C>A (p.Thr219Asn) single nucleotide variant Factor VII deficiency [RCV000851614] Chr13:113117513 [GRCh38]
Chr13:113771827 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.443G>A (p.Arg148His) single nucleotide variant Factor VII deficiency [RCV000851809] Chr13:113115738 [GRCh38]
Chr13:113770052 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.845C>T (p.Ala282Val) single nucleotide variant Factor VII deficiency [RCV000852243]|not provided [RCV000995102] Chr13:113118518 [GRCh38]
Chr13:113772832 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_019616.4(F7):c.1267G>A (p.Glu423Lys) single nucleotide variant Factor VII deficiency [RCV001113153]|not provided [RCV001508718] Chr13:113118940 [GRCh38]
Chr13:113773254 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:111568865-115107733)x1 copy number loss not provided [RCV000846886] Chr13:111568865..115107733 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.*1073A>T single nucleotide variant Factor VII deficiency [RCV001113249] Chr13:113120081 [GRCh38]
Chr13:113774395 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.681+1G>T single nucleotide variant Factor VII deficiency [RCV000851856] Chr13:113116876 [GRCh38]
Chr13:113771190 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.149C>G (p.Ser50Cys) single nucleotide variant Factor VII deficiency [RCV000852071] Chr13:113110774 [GRCh38]
Chr13:113765088 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.751_765del (p.Leu251_Asp255del) deletion Factor VII deficiency [RCV000852230] Chr13:113118413..113118427 [GRCh38]
Chr13:113772727..113772741 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.-22G>C single nucleotide variant not provided [RCV000995096] Chr13:113105820 [GRCh38]
Chr13:113760134 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.142C>T (p.Pro48Ser) single nucleotide variant not provided [RCV000995097] Chr13:113110767 [GRCh38]
Chr13:113765081 [GRCh37]
Chr13:13q34
uncertain significance
NM_000131.4(F7):c.-61T>G single nucleotide variant Factor VII deficiency [RCV000851625] Chr13:113105781 [GRCh38]
Chr13:113760095 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.1024C>T (p.Arg342Trp) single nucleotide variant Abnormality of coagulation [RCV000851653]|not provided [RCV001091743] Chr13:113118697 [GRCh38]
Chr13:113773011 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_019616.4(F7):c.1048C>T (p.Gln350Ter) single nucleotide variant Factor VII deficiency [RCV000851661] Chr13:113118721 [GRCh38]
Chr13:113773035 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.1325del (p.Pro442fs) deletion Abnormal bleeding [RCV000851695]|Factor VII deficiency [RCV000851926]|not provided [RCV001091745] Chr13:113118995 [GRCh38]
Chr13:113773309 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic
NM_019616.4(F7):c.217G>A (p.Glu73Lys) single nucleotide variant Factor VII deficiency [RCV000851761] Chr13:113110842 [GRCh38]
Chr13:113765156 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.961G>A (p.Gly321Ser) single nucleotide variant Factor VII deficiency [RCV000851965] Chr13:113118634 [GRCh38]
Chr13:113772948 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.-30A>C single nucleotide variant Factor VII deficiency [RCV000851580] Chr13:113105812 [GRCh38]
Chr13:113760126 [GRCh37]
Chr13:13q34
likely pathogenic
NM_000131.4(F7):c.805+7_805+43del deletion Factor VII deficiency [RCV000852223] Chr13:113117586..113117622 [GRCh38]
Chr13:113771900..113771936 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1383C>T single nucleotide variant Factor VII deficiency [RCV001114614] Chr13:113120391 [GRCh38]
Chr13:113774705 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.586G>A (p.Val196Met) single nucleotide variant Factor VII deficiency [RCV001110400] Chr13:113116846 [GRCh38]
Chr13:113771160 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.844G>A (p.Ala282Thr) single nucleotide variant Factor VII deficiency [RCV001111142] Chr13:113118517 [GRCh38]
Chr13:113772831 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.940G>A (p.Val314Met) single nucleotide variant Factor VII deficiency [RCV001111144] Chr13:113118613 [GRCh38]
Chr13:113772927 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*679A>C single nucleotide variant Factor VII deficiency [RCV001111241] Chr13:113119687 [GRCh38]
Chr13:113774001 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*721A>G single nucleotide variant Factor VII deficiency [RCV001111242] Chr13:113119729 [GRCh38]
Chr13:113774043 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*938G>A single nucleotide variant Factor VII deficiency [RCV001111244] Chr13:113119946 [GRCh38]
Chr13:113774260 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.499C>T (p.Pro167Ser) single nucleotide variant Factor VII deficiency [RCV001110399] Chr13:113115794 [GRCh38]
Chr13:113770108 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.1104C>T (p.Ala368=) single nucleotide variant Factor VII deficiency [RCV001111145]|not provided [RCV000888775] Chr13:113118777 [GRCh38]
Chr13:113773091 [GRCh37]
Chr13:13q34
benign|likely benign
NM_019616.4(F7):c.785G>A (p.Arg262Gln) single nucleotide variant Factor VII deficiency [RCV001110404]|not provided [RCV000910300] Chr13:113118458 [GRCh38]
Chr13:113772772 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_019616.4(F7):c.*1385T>C single nucleotide variant Factor VII deficiency [RCV001114615] Chr13:113120393 [GRCh38]
Chr13:113774707 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.1221A>G (p.Ala407=) single nucleotide variant Factor VII deficiency [RCV001113152] Chr13:113118894 [GRCh38]
Chr13:113773208 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.483C>T (p.Asp161=) single nucleotide variant Factor VII deficiency [RCV001114435]|not provided [RCV000890087] Chr13:113115778 [GRCh38]
Chr13:113770092 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NM_019616.4(F7):c.616-7C>A single nucleotide variant Factor VII deficiency [RCV001110401] Chr13:113117466 [GRCh38]
Chr13:113771780 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*541C>T single nucleotide variant Factor VII deficiency [RCV001110482] Chr13:113119549 [GRCh38]
Chr13:113773863 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*550C>T single nucleotide variant Factor VII deficiency [RCV001110483] Chr13:113119558 [GRCh38]
Chr13:113773872 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*664G>A single nucleotide variant Factor VII deficiency [RCV001110484] Chr13:113119672 [GRCh38]
Chr13:113773986 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.929C>T (p.Thr310Met) single nucleotide variant Factor VII deficiency [RCV001111143] Chr13:113118602 [GRCh38]
Chr13:113772916 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*894C>T single nucleotide variant Factor VII deficiency [RCV001111243] Chr13:113119902 [GRCh38]
Chr13:113774216 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
NM_019616.4(F7):c.-48C>A single nucleotide variant Factor VII deficiency [RCV001113047] Chr13:113105794 [GRCh38]
Chr13:113760108 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.64+998T>C single nucleotide variant not provided [RCV001090437] Chr13:113106903 [GRCh38]
Chr13:113761217 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.1316T>C (p.Leu439Pro) single nucleotide variant Factor VII deficiency [RCV001113154] Chr13:113118989 [GRCh38]
Chr13:113773303 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.1181G>A (p.Trp394Ter) single nucleotide variant not provided [RCV001091744] Chr13:113118854 [GRCh38]
Chr13:113773168 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.481G>A (p.Asp161Asn) single nucleotide variant Factor VII deficiency [RCV001114434] Chr13:113115776 [GRCh38]
Chr13:113770090 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*985G>A single nucleotide variant Factor VII deficiency [RCV001113248] Chr13:113119993 [GRCh38]
Chr13:113774307 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:113626234-113875062)x3 copy number gain not provided [RCV001006603] Chr13:113626234..113875062 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.*1359G>A single nucleotide variant Factor VII deficiency [RCV001114612] Chr13:113120367 [GRCh38]
Chr13:113774681 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:112069981-115107733)x3 copy number gain not provided [RCV001259172] Chr13:112069981..115107733 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.431C>T (p.Thr144Met) single nucleotide variant not provided [RCV001311354] Chr13:113115726 [GRCh38]
Chr13:113770040 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_019616.4(F7):c.195C>G (p.Ala65=) single nucleotide variant not provided [RCV001311353] Chr13:113110820 [GRCh38]
Chr13:113765134 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.915G>A (p.Thr305=) single nucleotide variant not provided [RCV001311355] Chr13:113118588 [GRCh38]
Chr13:113772902 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.791C>T (p.Ala264Val) single nucleotide variant Abnormal bleeding [RCV001270525] Chr13:113118464 [GRCh38]
Chr13:113772778 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_019616.4(F7):c.854G>A (p.Arg285His) single nucleotide variant not provided [RCV001508717] Chr13:113118527 [GRCh38]
Chr13:113772841 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.84A>C (p.Glu28Asp) single nucleotide variant Factor VII deficiency [RCV001420374] Chr13:113110709 [GRCh38]
Chr13:113765023 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.220A>G (p.Arg74Gly) single nucleotide variant Factor VII deficiency [RCV001420375] Chr13:113110845 [GRCh38]
Chr13:113765159 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.391A>C (p.Asn131His) single nucleotide variant Factor VII deficiency [RCV001420376] Chr13:113115686 [GRCh38]
Chr13:113770000 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.394G>T (p.Glu132Ter) single nucleotide variant Factor VII deficiency [RCV001420377] Chr13:113115689 [GRCh38]
Chr13:113770003 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.408T>G (p.Cys136Trp) single nucleotide variant Factor VII deficiency [RCV001420378] Chr13:113115703 [GRCh38]
Chr13:113770017 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.737T>C (p.Leu246Pro) single nucleotide variant Factor VII deficiency [RCV001420379] Chr13:113117594 [GRCh38]
Chr13:113771908 [GRCh37]
Chr13:13q34
likely pathogenic
NM_019616.4(F7):c.1272G>A (p.Trp424Ter) single nucleotide variant Factor VII deficiency [RCV001420380] Chr13:113118945 [GRCh38]
Chr13:113773259 [GRCh37]
Chr13:13q34
pathogenic
NM_019616.4(F7):c.1292C>T (p.Ser431Leu) single nucleotide variant Factor VII deficiency [RCV001420381] Chr13:113118965 [GRCh38]
Chr13:113773279 [GRCh37]
Chr13:13q34
likely benign
NM_019616.4(F7):c.1319G>T (p.Arg440Leu) single nucleotide variant Factor VII deficiency [RCV001420382] Chr13:113118992 [GRCh38]
Chr13:113773306 [GRCh37]
Chr13:13q34
uncertain significance
NM_019616.4(F7):c.724del (p.Asn241_Leu242insTer) deletion not provided [RCV001383722] Chr13:113117580 [GRCh38]
Chr13:113771894 [GRCh37]
Chr13:13q34
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3544 AgrOrtholog
COSMIC F7 COSMIC
Ensembl Genes ENSG00000057593 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000329546 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364731 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387669 UniProtKB/TrEMBL
  ENSP00000442051 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346342 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375581 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444337 UniProtKB/TrEMBL
  ENST00000541084 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.740.10 UniProtKB/Swiss-Prot
GTEx ENSG00000057593 GTEx
HGNC ID HGNC:3544 ENTREZGENE
Human Proteome Map F7 Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/Swiss-Prot
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA-like_dom_SF UniProtKB/Swiss-Prot
  GLA_domain UniProtKB/Swiss-Prot
  IPR033190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S1A_FX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2155 UniProtKB/Swiss-Prot
NCBI Gene 2155 ENTREZGENE
OMIM 227500 OMIM
  608446 OMIM
  613878 OMIM
PANTHER PTHR24278:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gla UniProtKB/Swiss-Prot
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB F7 RGD, PharmGKB
PIRSF Factor_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLABLOOD UniProtKB/Swiss-Prot
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_1 UniProtKB/Swiss-Prot
  GLA_2 UniProtKB/Swiss-Prot
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA UniProtKB/Swiss-Prot
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot
UniProt A3RMR0_HUMAN UniProtKB/TrEMBL
  A3RMR1_HUMAN UniProtKB/TrEMBL
  B4DPM2 ENTREZGENE, UniProtKB/TrEMBL
  E9PH36_HUMAN UniProtKB/TrEMBL
  F5H8B0 ENTREZGENE, UniProtKB/TrEMBL
  FA7_HUMAN UniProtKB/Swiss-Prot
  L8EC53_HUMAN UniProtKB/TrEMBL
  P08709 ENTREZGENE
UniProt Secondary B0YJC8 UniProtKB/Swiss-Prot
  Q14339 UniProtKB/Swiss-Prot
  Q5JVF1 UniProtKB/Swiss-Prot
  Q5JVF2 UniProtKB/Swiss-Prot
  Q9UD52 UniProtKB/Swiss-Prot
  Q9UD53 UniProtKB/Swiss-Prot
  Q9UD54 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 F7  coagulation factor VII    coagulation factor VII (serum prothrombin conversion accelerator)  Symbol and/or name change 5135510 APPROVED