CFD (complement factor D) - Rat Genome Database

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Gene: CFD (complement factor D) Homo sapiens
Analyze
Symbol: CFD
Name: complement factor D
RGD ID: 736531
HGNC Page HGNC
Description: Predicted to have serine-type peptidase activity. Predicted to be involved in retina development in camera-type eye and vascular associated smooth muscle cell differentiation. Localizes to extracellular exosome. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ADIPSIN; ADN; C3 convertase activator; complement factor D (adipsin); complement factor D preproprotein; D component of complement (adipsin); DF; PFD; properdin factor D
RGD Orthologs
Mouse
Rat
Chinchilla
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 Ensembl19859,664 - 863,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3819859,664 - 863,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719859,664 - 863,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619810,665 - 814,624 (+)NCBINCBI36hg18NCBI36
Build 3419810,664 - 814,608NCBI
Celera19784,591 - 789,264 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19628,736 - 632,629 (+)NCBIHuRef
CHM1_119859,248 - 863,166 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-ephedrine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
asbestos  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (EXP,ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
D-glucose  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dicrotophos  (EXP)
dimethylarsinic acid  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
flutamide  (ISO)
gallocatechin  (ISO)
glucose  (ISO)
graphite  (ISO)
heptachlor  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
lamivudine  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lithium chloride  (EXP,ISO)
lutein  (EXP)
magnesium atom  (ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
metformin  (EXP)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pioglitazone  (ISO)
potassium bromate  (ISO)
progesterone  (ISO)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
rifaximin  (EXP)
saquinavir  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
toxaphene  (ISO)
tributylstannane  (ISO)
troglitazone  (EXP,ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
XL147  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:162484   PMID:824769   PMID:1374388   PMID:2023254   PMID:6363133   PMID:6383466   PMID:6459901   PMID:6776531   PMID:6821372   PMID:6987665   PMID:7592653   PMID:8289289  
PMID:9145127   PMID:10971122   PMID:12080056   PMID:12477932   PMID:15174051   PMID:16169070   PMID:16344560   PMID:19056867   PMID:19336475   PMID:19344414   PMID:19538214   PMID:19699327  
PMID:19913121   PMID:20628086   PMID:20720586   PMID:21139680   PMID:21205667   PMID:21612582   PMID:22003108   PMID:22362762   PMID:22930722   PMID:23376485   PMID:23533145   PMID:23956345  
PMID:24598742   PMID:24958499   PMID:24995977   PMID:25840635   PMID:26687459   PMID:26760575   PMID:27535802   PMID:28189761   PMID:28219679   PMID:28864895   PMID:29138487   PMID:30541001  
PMID:31026383   PMID:31651303   PMID:31700183   PMID:32877502  


Genomics

Comparative Map Data
CFD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19859,664 - 863,641 (+)EnsemblGRCh38hg38GRCh38
GRCh3819859,664 - 863,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719859,664 - 863,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619810,665 - 814,624 (+)NCBINCBI36hg18NCBI36
Build 3419810,664 - 814,608NCBI
Celera19784,591 - 789,264 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19628,736 - 632,629 (+)NCBIHuRef
CHM1_119859,248 - 863,166 (+)NCBICHM1_1
Cfd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,726,687 - 79,728,489 (+)NCBIGRCm39mm39
GRCm39 Ensembl1079,726,687 - 79,728,489 (+)Ensembl
GRCm381079,890,853 - 79,892,655 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,890,853 - 79,892,655 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,353,598 - 79,355,401 (+)NCBIGRCm37mm9NCBIm37
MGSCv361079,294,041 - 79,295,783 (+)NCBImm8
Celera1080,905,663 - 80,907,466 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Cfd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,813,148 - 9,814,871 (-)NCBI
Rnor_6.0 Ensembl712,634,216 - 12,635,943 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0712,634,216 - 12,635,939 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0712,803,938 - 12,805,661 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,325,538 - 11,327,261 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1711,325,546 - 11,327,251 (-)NCBI
Celera77,987,896 - 7,989,620 (-)NCBICelera
RH 3.4 Map741.1RGD
Cytogenetic Map7q11NCBI
Cfd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554956,955,612 - 6,961,317 (-)NCBIChiLan1.0ChiLan1.0
CFD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,785,297 - 57,787,773 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,657,154 - 57,787,713 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,587,313 - 57,589,790 (-)NCBI
ROS_Cfam_1.02058,527,568 - 58,530,058 (-)NCBI
UMICH_Zoey_3.12057,582,382 - 57,584,835 (-)NCBI
UNSW_CanFamBas_1.02058,062,090 - 58,064,488 (-)NCBI
UU_Cfam_GSD_1.02058,265,041 - 58,267,518 (-)NCBI
Cfd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,482,051 - 217,483,972 (-)NCBI
SpeTri2.0NW_004936588350,925 - 352,732 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,509,795 - 77,511,974 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,509,792 - 77,511,988 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,485,653 - 77,487,849 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CFD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16608,821 - 612,382 (+)NCBI
ChlSab1.1 Ensembl6608,800 - 613,498 (+)Ensembl
Vero_WHO_p1.0NW_0236660818,304,252 - 8,308,149 (-)NCBI
Cfd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248287,714,926 - 7,717,139 (-)NCBI

Position Markers
RH66738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719860,871 - 861,007UniSTSGRCh37
Build 3619811,871 - 812,007RGDNCBI36
Celera19785,797 - 785,933RGD
Cytogenetic Map19p13.3UniSTS
HuRef19629,942 - 630,078UniSTS
GeneMap99-GB4 RH Map197.9UniSTS
RH41791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719863,186 - 863,296UniSTSGRCh37
Build 3619814,186 - 814,296RGDNCBI36
Celera19788,826 - 788,936RGD
Cytogenetic Map19p13.3UniSTS
HuRef19632,191 - 632,301UniSTS
DF  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719860,674 - 860,945UniSTSGRCh37
Build 3619811,674 - 811,945RGDNCBI36
Celera19785,600 - 785,871RGD
HuRef19629,745 - 630,016UniSTS
SGC35258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719863,249 - 863,348UniSTSGRCh37
Build 3619814,249 - 814,348RGDNCBI36
Celera19788,889 - 788,988RGD
Cytogenetic Map19p13.3UniSTS
HuRef19632,254 - 632,353UniSTS
GeneMap99-GB4 RH Map1918.48UniSTS
Whitehead-RH Map197.5UniSTS
RH11724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719863,311 - 863,450UniSTSGRCh37
Build 3619814,311 - 814,450RGDNCBI36
Celera19788,951 - 789,090RGD
Cytogenetic Map19p13.3UniSTS
HuRef19632,316 - 632,455UniSTS
GeneMap99-GB4 RH Map1918.48UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:453
Count of miRNA genes:294
Interacting mature miRNAs:310
Transcripts:ENST00000327726, ENST00000592860
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 241 244 93 4 22 1221 149 341 14 120 163 4 1000 524
Medium 2142 2690 1104 281 1296 124 2870 2012 548 160 1183 1316 164 1 204 2261 6 2
Low 52 55 521 337 474 339 254 31 2818 235 152 125 6 3
Below cutoff 4 2 3 2 90 2 11 4 21 8 4 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC112706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC212840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ313463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG573629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI763909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA008405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ884409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY087483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY281047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327726   ⟹   ENSP00000332139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19859,664 - 863,641 (+)Ensembl
RefSeq Acc Id: ENST00000592860   ⟹   ENSP00000468253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19859,664 - 863,238 (+)Ensembl
RefSeq Acc Id: NM_001317335   ⟹   NP_001304264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819859,664 - 863,641 (+)NCBI
CHM1_119859,242 - 863,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001928   ⟹   NP_001919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819859,664 - 863,641 (+)NCBI
GRCh3719859,665 - 863,624 (+)ENTREZGENE
Build 3619810,665 - 814,624 (+)NCBI Archive
HuRef19628,736 - 632,629 (+)ENTREZGENE
CHM1_119859,242 - 863,111 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001919   ⟸   NM_001928
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P00746 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304264   ⟸   NM_001317335
- Peptide Label: isoform 2 precursor
- UniProtKB: P00746 (UniProtKB/Swiss-Prot),   A6XNE2 (UniProtKB/TrEMBL),   K7ERG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000332139   ⟸   ENST00000327726
RefSeq Acc Id: ENSP00000468253   ⟸   ENST00000592860
Protein Domains
Peptidase S1

Promoters
RGD ID:6795277
Promoter ID:HG_KWN:28344
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:NM_001928,   UC010DRV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619810,436 - 810,936 (+)MPROMDB
RGD ID:6814635
Promoter ID:HG_XEF:3780
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001034255,   NM_001077642
Position:
Human AssemblyChrPosition (strand)Source
Build 3619811,516 - 812,016 (+)MPROMDB
RGD ID:7237745
Promoter ID:EPDNEW_H24618
Type:multiple initiation site
Name:CFD_1
Description:complement factor D
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
GRCh3819859,664 - 859,724EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001928.4(CFD):c.125C>A (p.Ser42Ter) single nucleotide variant Complement factor d deficiency [RCV000018032] Chr19:860686 [GRCh38]
Chr19:860686 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3 copy number gain See cases [RCV000054105] Chr19:677680..899104 [GRCh38]
Chr19:677680..899104 [GRCh37]
Chr19:628680..850104 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:839492-995558)x1 copy number loss See cases [RCV000134491] Chr19:839492..995558 [GRCh38]
Chr19:839492..995557 [GRCh37]
Chr19:790492..946557 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001928.4(CFD):c.213-9G>C single nucleotide variant not specified [RCV000454490] Chr19:860852 [GRCh38]
Chr19:860852 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001928.4(CFD):c.463A>G (p.Ile155Val) single nucleotide variant Complement factor d deficiency [RCV000767925] Chr19:861804 [GRCh38]
Chr19:861804 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-880080)x3 copy number gain not provided [RCV000752464] Chr19:789890..880080 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:789890-941603)x3 copy number gain not provided [RCV000752465] Chr19:789890..941603 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3 copy number gain not provided [RCV000752467] Chr19:801381..945710 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3 copy number gain not provided [RCV000752468] Chr19:801381..1008645 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804080-879947)x3 copy number gain not provided [RCV000752469] Chr19:804080..879947 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3 copy number gain not provided [RCV000752470] Chr19:804908..931523 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3 copy number gain not provided [RCV000752471] Chr19:804908..1008216 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:863356-876604)x1 copy number loss not provided [RCV000752473] Chr19:863356..876604 [GRCh37]
Chr19:19p13.3
benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001928.4(CFD):c.694C>T (p.Arg232Cys) single nucleotide variant not provided [RCV000939402] Chr19:863170 [GRCh38]
Chr19:863170 [GRCh37]
Chr19:19p13.3
likely benign
NM_001928.4(CFD):c.351G>A (p.Leu117=) single nucleotide variant not provided [RCV000925728] Chr19:860999 [GRCh38]
Chr19:860999 [GRCh37]
Chr19:19p13.3
likely benign
NM_001928.4(CFD):c.212+7G>T single nucleotide variant not provided [RCV000903458] Chr19:860780 [GRCh38]
Chr19:860780 [GRCh37]
Chr19:19p13.3
benign
NM_001928.4(CFD):c.528C>A (p.Arg176=) single nucleotide variant not provided [RCV000978382] Chr19:861869 [GRCh38]
Chr19:861869 [GRCh37]
Chr19:19p13.3
benign
NM_001928.4(CFD):c.125C>T (p.Ser42Leu) single nucleotide variant not provided [RCV000788228] Chr19:860686 [GRCh38]
Chr19:860686 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001928.4(CFD):c.56-1G>C single nucleotide variant not provided [RCV000788610] Chr19:860616 [GRCh38]
Chr19:860616 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001928.4(CFD):c.744C>A (p.Ile248=) single nucleotide variant not provided [RCV000931250] Chr19:863220 [GRCh38]
Chr19:863220 [GRCh37]
Chr19:19p13.3
likely benign
NM_001928.4(CFD):c.570C>T (p.Thr190=) single nucleotide variant not provided [RCV000888429] Chr19:861911 [GRCh38]
Chr19:861911 [GRCh37]
Chr19:19p13.3
benign
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001928.4(CFD):c.285C>A (p.Tyr95Ter) single nucleotide variant Complement factor d deficiency [RCV001335881] Chr19:860933 [GRCh38]
Chr19:860933 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001928.4(CFD):c.501G>C (p.Gln167His) single nucleotide variant not provided [RCV001340602] Chr19:861842 [GRCh38]
Chr19:861842 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001928.4(CFD):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV001339605] Chr19:861750 [GRCh38]
Chr19:861750 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001928.4(CFD):c.357+9C>G single nucleotide variant not provided [RCV001400034] Chr19:861014 [GRCh38]
Chr19:861014 [GRCh37]
Chr19:19p13.3
likely benign
NM_001928.4(CFD):c.675C>T (p.Gly225=) single nucleotide variant not provided [RCV001399300] Chr19:863151 [GRCh38]
Chr19:863151 [GRCh37]
Chr19:19p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2771 AgrOrtholog
COSMIC CFD COSMIC
Ensembl Genes ENSG00000197766 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274619 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000332139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468253 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000478745 UniProtKB/Swiss-Prot
  ENSP00000488580 UniProtKB/TrEMBL
Ensembl Transcript ENST00000327726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000592860 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000617994 UniProtKB/Swiss-Prot
  ENST00000632706 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197766 GTEx
  ENSG00000274619 GTEx
HGNC ID HGNC:2771 ENTREZGENE
Human Proteome Map CFD Human Proteome Map
InterPro Complement_factor_D 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:1675 UniProtKB/Swiss-Prot
NCBI Gene 1675 ENTREZGENE
OMIM 134350 OMIM
  613912 OMIM
PANTHER PTHR24271:SF54 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6XNE2 ENTREZGENE, UniProtKB/TrEMBL
  CFAD_HUMAN UniProtKB/Swiss-Prot
  K7ERG9 ENTREZGENE, UniProtKB/TrEMBL
  P00746 ENTREZGENE
UniProt Secondary B4DV76 UniProtKB/Swiss-Prot
  Q5U5S1 UniProtKB/Swiss-Prot
  Q86VJ5 UniProtKB/Swiss-Prot
  Q8N4E0 UniProtKB/Swiss-Prot
  Q8WZB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 CFD  complement factor D  CFD  complement factor D (adipsin)  Symbol and/or name change 5135510 APPROVED