FGFBP1 (fibroblast growth factor binding protein 1) - Rat Genome Database

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Gene: FGFBP1 (fibroblast growth factor binding protein 1) Homo sapiens
Analyze
Symbol: FGFBP1
Name: fibroblast growth factor binding protein 1
RGD ID: 1350352
HGNC Page HGNC
Description: Predicted to enable growth factor binding activity. Involved in positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis and positive regulation of cell migration involved in sprouting angiogenesis. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 17 kDa HBGF-binding protein; 17 kDa heparin-binding growth factor-binding protein; FGF-binding protein 1; FGF-BP; FGF-BP1; FGFBP; FGFBP-1; fibroblast growth factor-binding protein 1; HBP17; heparin-binding growth factor binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: AC006427.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl415,935,577 - 15,938,740 (-)EnsemblGRCh38hg38GRCh38
GRCh38415,935,577 - 15,938,740 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37415,937,200 - 15,940,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,546,290 - 15,549,069 (-)NCBINCBI36hg18NCBI36
Build 34415,613,462 - 15,616,240NCBI
Celera416,401,736 - 16,404,515 (-)NCBI
Cytogenetic Map4p15.32NCBI
HuRef415,286,779 - 15,289,950 (-)NCBIHuRef
CHM1_1415,934,975 - 15,938,146 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1885605   PMID:9334727   PMID:9784842   PMID:10753873   PMID:11148217   PMID:11291074   PMID:11407864   PMID:11509569   PMID:12477932   PMID:15489334   PMID:15806171   PMID:16257968  
PMID:16324873   PMID:16352855   PMID:16713569   PMID:17178288   PMID:19411256   PMID:19668233   PMID:20450993   PMID:20634891   PMID:20677014   PMID:21436287   PMID:21873635   PMID:22020285  
PMID:23592278   PMID:25429350   PMID:25704764   PMID:27121396   PMID:27576135   PMID:29158353   PMID:30021884   PMID:32296183   PMID:33381388   PMID:34117747  


Genomics

Comparative Map Data
FGFBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl415,935,577 - 15,938,740 (-)EnsemblGRCh38hg38GRCh38
GRCh38415,935,577 - 15,938,740 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37415,937,200 - 15,940,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,546,290 - 15,549,069 (-)NCBINCBI36hg18NCBI36
Build 34415,613,462 - 15,616,240NCBI
Celera416,401,736 - 16,404,515 (-)NCBI
Cytogenetic Map4p15.32NCBI
HuRef415,286,779 - 15,289,950 (-)NCBIHuRef
CHM1_1415,934,975 - 15,938,146 (-)NCBICHM1_1
Fgfbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39544,136,200 - 44,139,173 (-)NCBIGRCm39mm39
GRCm39 Ensembl544,136,200 - 44,139,121 (-)Ensembl
GRCm38543,978,858 - 43,981,828 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl543,978,858 - 43,981,779 (-)EnsemblGRCm38mm10GRCm38
MGSCv37544,370,099 - 44,373,001 (-)NCBIGRCm37mm9NCBIm37
MGSCv36544,267,108 - 44,270,010 (-)NCBImm8
Celera541,407,787 - 41,410,689 (-)NCBICelera
Cytogenetic Map5B3NCBI
Fgfbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21467,103,686 - 67,107,492 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1467,104,545 - 67,107,496 (+)Ensembl
Rnor_6.01471,647,429 - 71,650,359 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1471,649,274 - 71,650,354 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01471,677,999 - 71,680,898 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41472,242,271 - 72,243,353 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11472,244,661 - 72,245,742 (+)NCBI
Celera1466,064,463 - 66,065,545 (+)NCBICelera
Cytogenetic Map14q21NCBI
Fgfbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554808,088,670 - 8,091,882 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554808,088,670 - 8,091,882 (+)NCBIChiLan1.0ChiLan1.0
FGFBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1415,671,157 - 15,674,063 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl415,671,516 - 15,672,220 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0410,374,303 - 10,377,210 (-)NCBIMhudiblu_PPA_v0panPan3
FGFBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1364,447,441 - 64,450,529 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl364,449,411 - 64,450,178 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha366,965,564 - 66,968,653 (+)NCBI
ROS_Cfam_1.0364,926,048 - 64,929,145 (+)NCBI
UMICH_Zoey_3.1364,415,415 - 64,418,508 (+)NCBI
UNSW_CanFamBas_1.0364,619,531 - 64,622,601 (+)NCBI
UU_Cfam_GSD_1.0364,979,762 - 64,982,848 (+)NCBI
LOC101976958
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528558,328,351 - 58,331,287 (+)NCBI
SpeTri2.0NW_00493647712,030,140 - 12,032,626 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGFBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl811,186,368 - 11,189,241 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1811,186,360 - 11,189,317 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2810,836,810 - 10,839,763 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGFBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12734,274,489 - 34,277,672 (+)NCBI
ChlSab1.1 Ensembl2734,276,611 - 34,277,315 (+)Ensembl
Vero_WHO_p1.0NW_02366604781,008,181 - 81,011,393 (+)NCBI

Position Markers
FGFBP1_9026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,937,138 - 15,937,930UniSTSGRCh37
Build 36415,546,236 - 15,547,028RGDNCBI36
Celera416,401,682 - 16,402,474RGD
HuRef415,286,725 - 15,287,517UniSTS
STS-M60047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,937,236 - 15,937,373UniSTSGRCh37
Build 36415,546,334 - 15,546,471RGDNCBI36
Celera416,401,780 - 16,401,917RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,286,823 - 15,286,960UniSTS
GeneMap99-GB4 RH Map470.65UniSTS
D4S3140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,937,252 - 15,937,361UniSTSGRCh37
Build 36415,546,350 - 15,546,459RGDNCBI36
Celera416,401,796 - 16,401,905RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,286,839 - 15,286,948UniSTS
TNG Radiation Hybrid Map410526.0UniSTS
Stanford-G3 RH Map41010.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4132.1UniSTS
GeneMap99-G3 RH Map4994.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:303
Count of miRNA genes:123
Interacting mature miRNAs:127
Transcripts:ENST00000259988, ENST00000382333
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1 1 2 2 16 1 1
Medium 400 3 21 64 48 6 1306 19 20 26 247 231 68 6 699
Low 911 181 617 116 183 26 667 370 339 125 370 1012 93 460 381 1
Below cutoff 1031 1986 750 214 800 205 1794 1357 1896 128 698 284 9 672 1260 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382333   ⟹   ENSP00000371770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl415,935,577 - 15,938,740 (-)Ensembl
RefSeq Acc Id: NM_005130   ⟹   NP_005121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,935,577 - 15,938,740 (-)NCBI
GRCh37415,937,192 - 15,940,363 (-)NCBI
Build 36415,546,290 - 15,549,069 (-)NCBI Archive
HuRef415,286,779 - 15,289,950 (-)NCBI
CHM1_1415,934,975 - 15,938,146 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005121   ⟸   NM_005130
- Peptide Label: precursor
- UniProtKB: Q14512 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000371770   ⟸   ENST00000382333


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p15.32(chr4:15796371-16062609)x1 copy number loss See cases [RCV000139323] Chr4:15796371..16062609 [GRCh38]
Chr4:15797994..16064232 [GRCh37]
Chr4:15407092..15673330 [NCBI36]
Chr4:4p15.32
likely benign
GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1 copy number loss See cases [RCV000140878] Chr4:15868863..16925081 [GRCh38]
Chr4:15870486..16926704 [GRCh37]
Chr4:15479584..16535802 [NCBI36]
Chr4:4p15.32
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p15.32(chr4:15836236-16942209)x3 copy number gain See cases [RCV000510810] Chr4:15836236..16942209 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2
uncertain significance
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
Single allele inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32
pathogenic
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
NM_005130.5(FGFBP1):c.266A>T (p.Asp89Val) single nucleotide variant not provided [RCV000975032] Chr4:15936367 [GRCh38]
Chr4:15937990 [GRCh37]
Chr4:4p15.32
benign
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19695 AgrOrtholog
COSMIC FGFBP1 COSMIC
Ensembl Genes ENSG00000137440 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000371770 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382333 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000137440 GTEx
HGNC ID HGNC:19695 ENTREZGENE
Human Proteome Map FGFBP1 Human Proteome Map
InterPro FGF1-bd UniProtKB/Swiss-Prot
KEGG Report hsa:9982 UniProtKB/Swiss-Prot
NCBI Gene 9982 ENTREZGENE
OMIM 607737 OMIM
PANTHER PTHR15258 UniProtKB/Swiss-Prot
Pfam FGF-BP1 UniProtKB/Swiss-Prot
PharmGKB PA134880558 PharmGKB
UniProt FGFP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K5J2 UniProtKB/Swiss-Prot