FCN1 (ficolin 1) - Rat Genome Database

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Gene: FCN1 (ficolin 1) Homo sapiens
Analyze
Symbol: FCN1
Name: ficolin 1
RGD ID: 1351597
HGNC Page HGNC
Description: Enables G protein-coupled receptor binding activity; pattern recognition receptor activity; and sialic acid binding activity. Involved in several processes, including activation of immune response; positive regulation of interleukin-8 production; and positive regulation of opsonization. Located in serine-type endopeptidase complex. Is extrinsic component of external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: collagen/fibrinogen domain-containing protein 1; FCNM; ficolin (collagen/fibrinogen domain containing) 1; ficolin (collagen/fibrinogen domain-containing) 1; ficolin-1; ficolin-A; ficolin-alpha; M-ficolin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh389134,903,232 - 134,917,912 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9134,903,232 - 134,917,912 (-)EnsemblGRCh38hg38GRCh38
GRCh379137,795,078 - 137,809,758 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369136,941,253 - 136,949,630 (-)NCBINCBI36hg18NCBI36
Build 349135,027,380 - 135,035,754NCBI
Celera9108,315,253 - 108,323,628 (-)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9107,265,062 - 107,273,437 (-)NCBIHuRef
CHM1_19137,950,267 - 137,958,642 (-)NCBICHM1_1
T2T-CHM13v2.09147,124,901 - 147,139,590 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7686157   PMID:8573080   PMID:8576206   PMID:8884275   PMID:8947836   PMID:9202708   PMID:9777405   PMID:10679061   PMID:12477932   PMID:12624729   PMID:15117939   PMID:15340161  
PMID:15489334   PMID:15804047   PMID:16116205   PMID:16305643   PMID:16344560   PMID:17148457   PMID:17581635   PMID:17928056   PMID:17938215   PMID:18029348   PMID:18032536   PMID:18343499  
PMID:19539995   PMID:19632990   PMID:19741154   PMID:19853918   PMID:20032467   PMID:20237496   PMID:20375634   PMID:20400674   PMID:21037097   PMID:21112665   PMID:21490156   PMID:21689722  
PMID:21873635   PMID:21974696   PMID:22236007   PMID:22391637   PMID:22673311   PMID:22851708   PMID:22889273   PMID:22941510   PMID:23182717   PMID:23184524   PMID:23209787   PMID:23383108  
PMID:23817411   PMID:24022747   PMID:24161415   PMID:25069872   PMID:26154564   PMID:26186194   PMID:26792363   PMID:26984723   PMID:27734336   PMID:27981461   PMID:27994205   PMID:28060571  
PMID:28344315   PMID:28514442   PMID:28601054   PMID:28900133   PMID:30619357   PMID:32142211   PMID:32601370   PMID:32915797   PMID:33591573   PMID:33600013   PMID:33961781   PMID:34686494  


Genomics

Comparative Map Data
FCN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389134,903,232 - 134,917,912 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9134,903,232 - 134,917,912 (-)EnsemblGRCh38hg38GRCh38
GRCh379137,795,078 - 137,809,758 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369136,941,253 - 136,949,630 (-)NCBINCBI36hg18NCBI36
Build 349135,027,380 - 135,035,754NCBI
Celera9108,315,253 - 108,323,628 (-)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9107,265,062 - 107,273,437 (-)NCBIHuRef
CHM1_19137,950,267 - 137,958,642 (-)NCBICHM1_1
T2T-CHM13v2.09147,124,901 - 147,139,590 (-)NCBI
Fcnb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39227,966,491 - 27,974,921 (-)NCBIGRCm39mm39
GRCm39 Ensembl227,966,390 - 27,974,897 (-)Ensembl
GRCm38228,076,479 - 28,084,910 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl228,076,378 - 28,084,885 (-)EnsemblGRCm38mm10GRCm38
MGSCv37227,931,999 - 27,940,398 (-)NCBIGRCm37mm9NCBIm37
MGSCv36227,898,488 - 27,906,887 (-)NCBImm8
Celera227,779,281 - 27,787,680 (-)NCBICelera
Cytogenetic Map2A3NCBI
Fcnb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2311,393,771 - 11,402,198 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl311,393,739 - 11,402,151 (-)Ensembl
Rnor_6.036,617,816 - 6,626,193 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl36,617,751 - 6,626,284 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0311,974,691 - 11,983,068 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.437,010,989 - 7,019,366 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.137,011,288 - 7,019,666 (-)NCBI
Celera36,185,644 - 6,194,021 (-)NCBICelera
Cytogenetic Map3p12NCBI
Fcn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555133,687,232 - 3,698,673 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555133,690,550 - 3,697,785 (-)NCBIChiLan1.0ChiLan1.0
FCN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19135,040,722 - 135,049,105 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9135,040,310 - 135,049,111 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09106,039,315 - 106,047,648 (-)NCBIMhudiblu_PPA_v0panPan3
FCN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1950,868,942 - 50,876,001 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl950,868,973 - 50,875,792 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha950,152,289 - 50,159,350 (+)NCBI
ROS_Cfam_1.0951,746,147 - 51,753,208 (+)NCBI
ROS_Cfam_1.0 Ensembl951,746,180 - 51,752,999 (+)Ensembl
UMICH_Zoey_3.1950,506,401 - 50,513,474 (+)NCBI
UNSW_CanFamBas_1.0950,850,289 - 50,857,359 (+)NCBI
UU_Cfam_GSD_1.0950,927,946 - 50,935,059 (+)NCBI
FCN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1274,103,877 - 274,111,970 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11274,106,276 - 274,111,970 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21308,195,158 - 308,203,079 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FCN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1123,227,790 - 3,236,161 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660581,894,000 - 1,902,427 (-)NCBIVero_WHO_p1.0
Fcn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247602,743,996 - 2,751,110 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247602,743,996 - 2,751,116 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH70225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379137,801,498 - 137,801,623UniSTSGRCh37
Build 369136,941,319 - 136,941,444RGDNCBI36
Celera9108,315,320 - 108,315,445RGD
Cytogenetic Map9q34UniSTS
HuRef9107,265,129 - 107,265,254UniSTS
GeneMap99-GB4 RH Map9434.89UniSTS
STS-AA037000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379137,801,472 - 137,801,719UniSTSGRCh37
Build 369136,941,293 - 136,941,540RGDNCBI36
Celera9108,315,294 - 108,315,541RGD
Cytogenetic Map9q34UniSTS
HuRef9107,265,103 - 107,265,350UniSTS
GeneMap99-GB4 RH Map9432.68UniSTS
MARC_23630-23631:1027528738:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379137,804,371 - 137,804,908UniSTSGRCh37
Build 369136,944,192 - 136,944,729RGDNCBI36
Celera9108,318,193 - 108,318,730RGD
HuRef9107,268,002 - 107,268,539UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:317
Count of miRNA genes:295
Interacting mature miRNAs:310
Transcripts:ENST00000371806
Prediction methods:Miranda, Rnahybrid
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 3 5 1 3
Medium 45 801 50 42 1119 39 79 13 10 88 72 523 4 163 14
Low 1495 1384 1206 466 210 362 2200 1053 990 229 641 763 103 1033 1313 2
Below cutoff 789 785 450 103 248 49 1843 1089 2612 63 643 154 56 8 1454

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000371806   ⟹   ENSP00000360871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9134,903,232 - 134,917,912 (-)Ensembl
RefSeq Acc Id: ENST00000616356   ⟹   ENSP00000479379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9134,905,890 - 134,917,877 (-)Ensembl
RefSeq Acc Id: NM_002003   ⟹   NP_001994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389134,903,232 - 134,917,912 (-)NCBI
GRCh379137,797,711 - 137,809,849 (-)NCBI
Build 369136,941,253 - 136,949,630 (-)NCBI Archive
HuRef9107,265,062 - 107,273,437 (-)ENTREZGENE
CHM1_19137,950,267 - 137,958,642 (-)NCBI
T2T-CHM13v2.09147,124,901 - 147,139,590 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001994   ⟸   NM_002003
- Peptide Label: precursor
- UniProtKB: O00602 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360871   ⟸   ENST00000371806
RefSeq Acc Id: ENSP00000479379   ⟸   ENST00000616356
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00602-F1-model_v2 AlphaFold O00602 1-326 view protein structure

Promoters
RGD ID:7216579
Promoter ID:EPDNEW_H14036
Type:initiation region
Name:FCN1_1
Description:ficolin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389134,917,909 - 134,917,969EPDNEW
RGD ID:6807692
Promoter ID:HG_KWN:65509
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000308299,   ENST00000371807,   OTTHUMT00000054963
Position:
Human AssemblyChrPosition (strand)Source
Build 369136,949,276 - 136,949,776 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
NM_002003.3(FCN1):c.381C>T (p.Phe127=) single nucleotide variant Malignant melanoma [RCV000068583] Chr9:134913103 [GRCh38]
Chr9:137804949 [GRCh37]
Chr9:136944770 [NCBI36]
Chr9:9q34.3
not provided
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134492275-135456038)x3 copy number gain See cases [RCV000136609] Chr9:134492275..135456038 [GRCh38]
Chr9:137384121..138347884 [GRCh37]
Chr9:136523942..137487705 [NCBI36]
Chr9:9q34.2-34.3
uncertain significance
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_002003.5(FCN1):c.454G>A (p.Gly152Arg) single nucleotide variant Monoclonal B-Cell Lymphocytosis [RCV000208544] Chr9:134913030 [GRCh38]
Chr9:137804876 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_002003.5(FCN1):c.802T>C (p.Ser268Pro) single nucleotide variant not specified [RCV000455697] Chr9:134909977 [GRCh38]
Chr9:137801823 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137641609-138199640)x3 copy number gain not provided [RCV000683131] Chr9:137641609..138199640 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:137738997-138049974)x3 copy number gain not provided [RCV000683109] Chr9:137738997..138049974 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137736478-138563159)x3 copy number gain not provided [RCV000683146] Chr9:137736478..138563159 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137421583-138211368)x3 copy number gain not provided [RCV000847872] Chr9:137421583..138211368 [GRCh37]
Chr9:9q34.3
uncertain significance
Single allele single nucleotide variant not provided [RCV001661029] Chr9:134918015 [GRCh38]
Chr9:137809861 [GRCh37]
Chr9:9q34.3
benign
Single allele single nucleotide variant not provided [RCV001675325] Chr9:134918413 [GRCh38]
Chr9:137810259 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_137534034)_(139440238_?)dup duplication Ehlers-Danlos syndrome, classic type, 1 [RCV001872736] Chr9:137534034..139440238 [GRCh37]
Chr9:9q34.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3623 AgrOrtholog
COSMIC FCN1 COSMIC
Ensembl Genes ENSG00000085265 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360871 ENTREZGENE
  ENSP00000360871.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371806 ENTREZGENE
  ENST00000371806.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.215.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000085265 GTEx
HGNC ID HGNC:3623 ENTREZGENE
Human Proteome Map FCN1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_a/b/g_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_CS UniProtKB/Swiss-Prot
KEGG Report hsa:2219 UniProtKB/Swiss-Prot
NCBI Gene 2219 ENTREZGENE
OMIM 601252 OMIM
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrinogen_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28069 PharmGKB
PROSITE FIBRINOGEN_C_1 UniProtKB/Swiss-Prot
  FIBRINOGEN_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FBG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56496 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FCN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q92531_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5VYV5 UniProtKB/Swiss-Prot
  Q92596 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 FCN1  ficolin 1    ficolin (collagen/fibrinogen domain containing) 1  Symbol and/or name change 5135510 APPROVED