FBLN1 (fibulin 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: FBLN1 (fibulin 1) Homo sapiens
Analyze
Symbol: FBLN1
Name: fibulin 1
RGD ID: 1318572
HGNC Page HGNC
Description: Enables several functions, including fibrinogen binding activity; fibronectin binding activity; and protein C-terminus binding activity. An extracellular matrix structural constituent. Involved in several processes, including negative regulation of ERK1 and ERK2 cascade; negative regulation of macromolecule metabolic process; and regulation of cell-substrate adhesion. Located in elastic fiber and extracellular space. Colocalizes with collagen-containing extracellular matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FBLN; FIBL1; fibulin-1
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 Ensembl2245,502,238 - 45,601,135 (+)EnsemblGRCh38hg38GRCh38
GRCh382245,502,883 - 45,601,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372245,898,763 - 45,997,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,277,383 - 44,375,678 (+)NCBINCBI36hg18NCBI36
Build 342244,219,255 - 44,275,128NCBI
Celera2229,809,689 - 29,909,644 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2228,859,953 - 28,942,412 (+)NCBIHuRef
CHM1_12245,857,451 - 45,955,744 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-phenylbutyric acid  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chromium(6+)  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cytarabine  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
methotrexate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentane-2,3-dione  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
potassium dichromate  (EXP,ISO)
prednisolone  (EXP)
progesterone  (EXP)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
Soman  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:1400330   PMID:2269669   PMID:2527614   PMID:7500359   PMID:7534784   PMID:7642629   PMID:7806231   PMID:7842734   PMID:8175920   PMID:8354280   PMID:8552629   PMID:8737292  
PMID:8839849   PMID:8889548   PMID:9106159   PMID:9278415   PMID:9299350   PMID:9393974   PMID:9466671   PMID:9811350   PMID:9927660   PMID:10037144   PMID:10318851   PMID:10400671  
PMID:10544250   PMID:10591208   PMID:11238726   PMID:11792823   PMID:11829738   PMID:11836357   PMID:11846885   PMID:11850827   PMID:12122015   PMID:12200142   PMID:12477932   PMID:12644824  
PMID:12912698   PMID:14635206   PMID:14691454   PMID:14702039   PMID:14718574   PMID:15231748   PMID:15489334   PMID:15498874   PMID:15528301   PMID:15774544   PMID:15990087   PMID:16061471  
PMID:16169070   PMID:16303743   PMID:16713569   PMID:17062666   PMID:17353931   PMID:18029348   PMID:18222970   PMID:18985039   PMID:19109427   PMID:19609566   PMID:19693531   PMID:20098615  
PMID:20360068   PMID:20379614   PMID:20405022   PMID:20451270   PMID:20551380   PMID:20716560   PMID:20967215   PMID:21078624   PMID:21268132   PMID:21653829   PMID:21888404   PMID:21926180  
PMID:21988832   PMID:22349089   PMID:22365631   PMID:22528093   PMID:23294625   PMID:23376485   PMID:23391467   PMID:23533145   PMID:23866070   PMID:23907575   PMID:24084572   PMID:24739800  
PMID:25014213   PMID:25037231   PMID:25234557   PMID:25331251   PMID:25456503   PMID:25464930   PMID:25661773   PMID:25834989   PMID:26186194   PMID:26631026   PMID:26779638   PMID:26826315  
PMID:27068509   PMID:27402846   PMID:27422995   PMID:27911324   PMID:28068900   PMID:28079882   PMID:28282800   PMID:28327460   PMID:28333958   PMID:28445604   PMID:28514442   PMID:28675934  
PMID:29117863   PMID:29150431   PMID:29226648   PMID:29568061   PMID:29715435   PMID:29791485   PMID:29867203   PMID:29872149   PMID:29940241   PMID:30026490   PMID:31343988   PMID:31376183  
PMID:31663514   PMID:32296183   PMID:33106982   PMID:33470885   PMID:33961781   PMID:34238097  


Genomics

Comparative Map Data
FBLN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2245,502,238 - 45,601,135 (+)EnsemblGRCh38hg38GRCh38
GRCh382245,502,883 - 45,601,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372245,898,763 - 45,997,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,277,383 - 44,375,678 (+)NCBINCBI36hg18NCBI36
Build 342244,219,255 - 44,275,128NCBI
Celera2229,809,689 - 29,909,644 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2228,859,953 - 28,942,412 (+)NCBIHuRef
CHM1_12245,857,451 - 45,955,744 (+)NCBICHM1_1
Fbln1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,090,150 - 85,170,495 (+)NCBIGRCm39mm39
GRCm39 Ensembl1585,090,150 - 85,170,736 (+)Ensembl
GRCm381585,205,949 - 85,286,294 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,205,949 - 85,286,535 (+)EnsemblGRCm38mm10GRCm38
MGSCv371585,036,438 - 85,116,724 (+)NCBIGRCm37mm9NCBIm37
MGSCv361585,033,777 - 85,113,422 (+)NCBImm8
Celera1587,331,933 - 87,412,210 (+)NCBICelera
Cytogenetic Map15E2NCBI
Fbln1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27116,310,582 - 116,390,075 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7116,310,582 - 116,390,075 (+)Ensembl
Rnor_6.07126,096,793 - 126,176,468 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,096,793 - 126,176,468 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07125,810,696 - 125,890,371 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,208,154 - 123,287,289 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17123,242,385 - 123,321,516 (+)NCBI
Celera7112,608,514 - 112,687,953 (+)NCBICelera
Cytogenetic Map7q34NCBI
Fbln1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541329,837,134 - 29,912,222 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541329,837,134 - 29,911,313 (+)NCBIChiLan1.0ChiLan1.0
FBLN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12244,583,632 - 44,666,696 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2244,582,843 - 44,666,011 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02226,390,379 - 26,488,737 (+)NCBIMhudiblu_PPA_v0panPan3
FBLN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11020,498,097 - 20,564,776 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1020,498,567 - 20,627,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1020,418,944 - 20,535,831 (-)NCBI
ROS_Cfam_1.01021,232,145 - 21,315,719 (-)NCBI
UMICH_Zoey_3.11020,951,205 - 21,068,293 (-)NCBI
UNSW_CanFamBas_1.01021,264,132 - 21,382,166 (-)NCBI
UU_Cfam_GSD_1.01021,444,929 - 21,562,250 (-)NCBI
Fbln1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049454,170,186 - 4,231,513 (-)NCBI
SpeTri2.0NW_0049366294,170,186 - 4,242,100 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBLN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl53,839,501 - 3,927,183 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,839,498 - 3,927,178 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.251,071,068 - 1,158,743 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FBLN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11927,962,669 - 28,061,356 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1927,962,642 - 28,061,364 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604597,273,345 - 97,370,894 (-)NCBIVero_WHO_p1.0
Fbln1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247524,109,478 - 4,189,987 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D22S444  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,961,526 - 45,961,647UniSTSGRCh37
Build 362244,340,190 - 44,340,311RGDNCBI36
Celera2229,872,497 - 29,872,622RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,922 - 28,907,047UniSTS
Marshfield Genetic Map2251.54RGD
Marshfield Genetic Map2251.54UniSTS
deCODE Assembly Map2258.85UniSTS
Stanford-G3 RH Map221538.0UniSTS
Whitehead-RH Map22174.1UniSTS
NCBI RH Map22220.4UniSTS
SHGC-11380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,809 - 45,996,962UniSTSGRCh37
Build 362244,375,473 - 44,375,626RGDNCBI36
Celera2229,909,439 - 29,909,592RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,207 - 28,942,360UniSTS
Stanford-G3 RH Map221548.0UniSTS
GeneMap99-G3 RH Map221548.0UniSTS
RH15754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,916,481 - 45,916,627UniSTSGRCh37
Build 362244,295,145 - 44,295,291RGDNCBI36
Celera2229,827,452 - 29,827,598RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,861,875 - 28,862,021UniSTS
WIAF-1606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,872 - 45,961,370UniSTSGRCh37
Build 362244,339,536 - 44,340,034RGDNCBI36
Celera2229,871,843 - 29,872,341RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,268 - 28,906,766UniSTS
G49289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,971,728 - 45,972,039UniSTSGRCh37
Build 362244,350,392 - 44,350,703RGDNCBI36
Celera2229,884,354 - 29,884,665RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,917,126 - 28,917,437UniSTS
G49290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,971,826 - 45,972,182UniSTSGRCh37
Build 362244,350,490 - 44,350,846RGDNCBI36
Celera2229,884,452 - 29,884,808RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,917,224 - 28,917,580UniSTS
G59664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,878 - 45,961,125UniSTSGRCh37
Build 362244,339,542 - 44,339,789RGDNCBI36
Celera2229,871,849 - 29,872,096RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,274 - 28,906,521UniSTS
G60177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,960,878 - 45,961,151UniSTSGRCh37
Build 362244,339,542 - 44,339,815RGDNCBI36
Celera2229,871,849 - 29,872,122RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,274 - 28,906,547UniSTS
G62037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,748 - 45,996,856UniSTSGRCh37
Build 362244,375,412 - 44,375,520RGDNCBI36
Celera2229,909,378 - 29,909,486RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,146 - 28,942,254UniSTS
G65370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,922,681 - 45,923,031UniSTSGRCh37
Build 362244,301,345 - 44,301,695RGDNCBI36
Celera2229,833,653 - 29,834,003RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,868,076 - 28,868,426UniSTS
G65371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,930,392 - 45,930,743UniSTSGRCh37
Build 362244,309,056 - 44,309,407RGDNCBI36
Celera2229,841,363 - 29,841,714RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,875,785 - 28,876,136UniSTS
G65372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,934,244 - 45,934,595UniSTSGRCh37
Build 362244,312,908 - 44,313,259RGDNCBI36
Celera2229,845,214 - 29,845,565RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,879,636 - 28,879,987UniSTS
G65373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,937,190 - 45,937,542UniSTSGRCh37
Build 362244,315,854 - 44,316,206RGDNCBI36
Celera2229,848,160 - 29,848,512RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,882,582 - 28,882,934UniSTS
G65369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,907,760 - 45,908,119UniSTSGRCh37
Build 362244,286,424 - 44,286,783RGDNCBI36
Celera2229,818,729 - 29,819,088RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,853,151 - 28,853,510UniSTS
AL021648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,937,685 - 45,937,867UniSTSGRCh37
Build 362244,316,349 - 44,316,531RGDNCBI36
Celera2229,848,655 - 29,848,837RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,883,077 - 28,883,259UniSTS
D22S1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,961,062 - 45,961,170UniSTSGRCh37
Build 362244,339,726 - 44,339,834RGDNCBI36
Celera2229,872,033 - 29,872,141RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,906,458 - 28,906,566UniSTS
Stanford-G3 RH Map221542.0UniSTS
GeneMap99-G3 RH Map221542.0UniSTS
PMC115182P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,939,806 - 45,940,392UniSTSGRCh37
Build 362244,318,470 - 44,319,056RGDNCBI36
Celera2229,850,776 - 29,851,362RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,885,198 - 28,885,784UniSTS
D22S1237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,369 - 45,996,533UniSTSGRCh37
Build 362244,375,033 - 44,375,197RGDNCBI36
Celera2229,908,999 - 29,909,163RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,941,767 - 28,941,931UniSTS
Stanford-G3 RH Map221545.0UniSTS
NCBI RH Map22230.8UniSTS
GeneMap99-G3 RH Map221545.0UniSTS
D22S1102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372245,996,789 - 45,997,014UniSTSGRCh37
Build 362244,375,453 - 44,375,678RGDNCBI36
Celera2229,909,419 - 29,909,644RGD
Cytogenetic Map22q13.31UniSTS
HuRef2228,942,187 - 28,942,412UniSTS
GeneMap99-GB4 RH Map22154.59UniSTS
Whitehead-RH Map22176.3UniSTS
NCBI RH Map22220.4UniSTS
G06348  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5497
Count of miRNA genes:1254
Interacting mature miRNAs:1622
Transcripts:ENST00000262722, ENST00000327858, ENST00000340923, ENST00000348697, ENST00000402984, ENST00000411478, ENST00000437711, ENST00000439835, ENST00000442170, ENST00000445110, ENST00000450975, ENST00000451475, ENST00000454279, ENST00000455233, ENST00000460300, ENST00000460538, ENST00000465578, ENST00000476366, ENST00000484531
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 visual system adipose tissue appendage entire extraembryonic component
High 8 28 1 10 7 2 2 67 10 1 9
Medium 2306 2131 1308 262 341 104 3764 1589 1450 213 1329 1472 171 1203 2254 4
Low 44 289 400 351 473 352 570 594 2254 192 57 106 525 1
Below cutoff 70 540 15 9 740 9 12 7 9 11 7 24 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF126110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI092723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY040589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX403501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX424750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX443677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB852401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS161048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U01244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z95331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262722   ⟹   ENSP00000262722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,883 - 45,563,362 (+)Ensembl
RefSeq Acc Id: ENST00000327858   ⟹   ENSP00000331544
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,883 - 45,601,135 (+)Ensembl
RefSeq Acc Id: ENST00000340923   ⟹   ENSP00000342212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,976 - 45,558,711 (+)Ensembl
RefSeq Acc Id: ENST00000402984   ⟹   ENSP00000385521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,883 - 45,563,352 (+)Ensembl
RefSeq Acc Id: ENST00000411478   ⟹   ENSP00000415289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,238 - 45,531,324 (+)Ensembl
RefSeq Acc Id: ENST00000437711   ⟹   ENSP00000401077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,525,675 - 45,542,214 (+)Ensembl
RefSeq Acc Id: ENST00000439835   ⟹   ENSP00000395329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,503,046 - 45,525,563 (+)Ensembl
RefSeq Acc Id: ENST00000442170   ⟹   ENSP00000393812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,970 - 45,565,701 (+)Ensembl
RefSeq Acc Id: ENST00000445110   ⟹   ENSP00000404024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,277 - 45,525,678 (+)Ensembl
RefSeq Acc Id: ENST00000450975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,517,345 - 45,518,786 (+)Ensembl
RefSeq Acc Id: ENST00000451475   ⟹   ENSP00000415160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,518,783 - 45,533,898 (+)Ensembl
RefSeq Acc Id: ENST00000454279   ⟹   ENSP00000414584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,518,582 - 45,531,324 (+)Ensembl
RefSeq Acc Id: ENST00000455233   ⟹   ENSP00000402963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,502,832 - 45,533,095 (+)Ensembl
RefSeq Acc Id: ENST00000460300   ⟹   ENSP00000489422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,577,039 - 45,578,434 (+)Ensembl
RefSeq Acc Id: ENST00000460538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,532,893 - 45,541,279 (+)Ensembl
RefSeq Acc Id: ENST00000465578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,533,151 - 45,535,584 (+)Ensembl
RefSeq Acc Id: ENST00000476366
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,541,229 - 45,551,129 (+)Ensembl
RefSeq Acc Id: ENST00000484531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2245,533,781 - 45,535,431 (+)Ensembl
RefSeq Acc Id: NM_001996   ⟹   NP_001987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,563,362 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,337,906 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,918,000 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006485   ⟹   NP_006476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,565,706 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,340,245 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,920,339 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006486   ⟹   NP_006477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,601,135 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,375,678 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,955,744 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006487   ⟹   NP_006478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,502,883 - 45,558,712 (+)NCBI
GRCh372245,898,719 - 45,997,014 (+)ENTREZGENE
Build 362244,277,383 - 44,333,255 (+)NCBI Archive
HuRef2228,859,953 - 28,942,412 (+)ENTREZGENE
CHM1_12245,857,451 - 45,913,349 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001987 (Get FASTA)   NCBI Sequence Viewer  
  NP_006476 (Get FASTA)   NCBI Sequence Viewer  
  NP_006477 (Get FASTA)   NCBI Sequence Viewer  
  NP_006478 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17099 (Get FASTA)   NCBI Sequence Viewer  
  AAG17241 (Get FASTA)   NCBI Sequence Viewer  
  AAH22497 (Get FASTA)   NCBI Sequence Viewer  
  AAK37822 (Get FASTA)   NCBI Sequence Viewer  
  AAK82945 (Get FASTA)   NCBI Sequence Viewer  
  BAC11705 (Get FASTA)   NCBI Sequence Viewer  
  BAG62463 (Get FASTA)   NCBI Sequence Viewer  
  BAH14662 (Get FASTA)   NCBI Sequence Viewer  
  CAA37770 (Get FASTA)   NCBI Sequence Viewer  
  CAA37771 (Get FASTA)   NCBI Sequence Viewer  
  CAA37772 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30871 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30872 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30873 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30874 (Get FASTA)   NCBI Sequence Viewer  
  CAJ44949 (Get FASTA)   NCBI Sequence Viewer  
  CBF57602 (Get FASTA)   NCBI Sequence Viewer  
  EAW73385 (Get FASTA)   NCBI Sequence Viewer  
  EAW73386 (Get FASTA)   NCBI Sequence Viewer  
  EAW73387 (Get FASTA)   NCBI Sequence Viewer  
  EAW73388 (Get FASTA)   NCBI Sequence Viewer  
  EAW73389 (Get FASTA)   NCBI Sequence Viewer  
  EAW73390 (Get FASTA)   NCBI Sequence Viewer  
  P23142 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006477   ⟸   NM_006486
- Peptide Label: isoform D precursor
- Sequence:
RefSeq Acc Id: NP_006476   ⟸   NM_006485
- Peptide Label: isoform B precursor
- Sequence:
RefSeq Acc Id: NP_001987   ⟸   NM_001996
- Peptide Label: isoform C precursor
- Sequence:
RefSeq Acc Id: NP_006478   ⟸   NM_006487
- Peptide Label: isoform A precursor
- Sequence:
RefSeq Acc Id: ENSP00000401077   ⟸   ENST00000437711
RefSeq Acc Id: ENSP00000395329   ⟸   ENST00000439835
RefSeq Acc Id: ENSP00000415289   ⟸   ENST00000411478
RefSeq Acc Id: ENSP00000415160   ⟸   ENST00000451475
RefSeq Acc Id: ENSP00000414584   ⟸   ENST00000454279
RefSeq Acc Id: ENSP00000402963   ⟸   ENST00000455233
RefSeq Acc Id: ENSP00000385521   ⟸   ENST00000402984
RefSeq Acc Id: ENSP00000393812   ⟸   ENST00000442170
RefSeq Acc Id: ENSP00000331544   ⟸   ENST00000327858
RefSeq Acc Id: ENSP00000404024   ⟸   ENST00000445110
RefSeq Acc Id: ENSP00000342212   ⟸   ENST00000340923
RefSeq Acc Id: ENSP00000262722   ⟸   ENST00000262722
RefSeq Acc Id: ENSP00000489422   ⟸   ENST00000460300
Protein Domains
Anaphylatoxin-like   EGF-like

Promoters
RGD ID:6799982
Promoter ID:HG_KWN:43216
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000348697,   NM_001996,   NM_006485,   NM_006487,   OTTHUMT00000322287,   OTTHUMT00000322291,   OTTHUMT00000322292,   OTTHUMT00000322293,   OTTHUMT00000322294,   UC010GZZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,277,021 - 44,277,522 (+)MPROMDB
RGD ID:13604418
Promoter ID:EPDNEW_H28393
Type:initiation region
Name:FBLN1_1
Description:fibulin 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
GRCh382245,502,883 - 45,502,943EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006486.3(FBLN1):c.1082C>T (p.Ala361Val) single nucleotide variant not provided [RCV000728913] Chr22:45542170 [GRCh38]
Chr22:45938050 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_006486.3(FBLN1):c.72G>A (p.Ala24=) single nucleotide variant not provided [RCV000959697]|not specified [RCV000173405] Chr22:45503057 [GRCh38]
Chr22:45898937 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_006486.3(FBLN1):c.1190G>T (p.Cys397Phe) single nucleotide variant Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects [RCV000054444]|not provided [RCV000128616] Chr22:45542278 [GRCh38]
Chr22:45938158 [GRCh37]
Chr22:22q13.31
pathogenic|uncertain significance
NM_006486.2(FBLN1):c.2011C>T (p.His671Tyr) single nucleotide variant Malignant melanoma [RCV000072997] Chr22:45600345 [GRCh38]
Chr22:45996225 [GRCh37]
Chr22:44374889 [NCBI36]
Chr22:22q13.31
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_006486.3(FBLN1):c.1441+9G>A single nucleotide variant not provided [RCV000967803]|not specified [RCV000174353] Chr22:45547213 [GRCh38]
Chr22:45943093 [GRCh37]
Chr22:22q13.31
benign|likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_006486.3(FBLN1):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV000178271] Chr22:45527878 [GRCh38]
Chr22:45923758 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) single nucleotide variant not provided [RCV000177258] Chr22:45525636 [GRCh38]
Chr22:45921516 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) single nucleotide variant not provided [RCV000892721]|not specified [RCV000388018] Chr22:45543414 [GRCh38]
Chr22:45939294 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV000285543] Chr22:45542162 [GRCh38]
Chr22:45938042 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser) single nucleotide variant not provided [RCV000260006] Chr22:45525643 [GRCh38]
Chr22:45921523 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) single nucleotide variant not provided [RCV000327379] Chr22:45541318 [GRCh38]
Chr22:45937198 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.268C>T (p.Arg90Cys) single nucleotide variant not provided [RCV000295456] Chr22:45525625 [GRCh38]
Chr22:45921505 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.1684C>T (p.Arg562Cys) single nucleotide variant not provided [RCV000402873] Chr22:45550602 [GRCh38]
Chr22:45946482 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.1925G>T (p.Arg642Leu) single nucleotide variant not specified [RCV000298703] Chr22:45577061 [GRCh38]
Chr22:45972941 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_006486.3(FBLN1):c.992C>A (p.Ser331Tyr) single nucleotide variant not provided [RCV000598300] Chr22:45541298 [GRCh38]
Chr22:45937178 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.1662C>T (p.Phe554=) single nucleotide variant not specified [RCV000592482] Chr22:45550580 [GRCh38]
Chr22:45946460 [GRCh37]
Chr22:22q13.31
likely benign
NM_006486.3(FBLN1):c.1441+5G>A single nucleotide variant not provided [RCV000593725] Chr22:45547209 [GRCh38]
Chr22:45943089 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) single nucleotide variant not specified [RCV000734006] Chr22:45600418 [GRCh38]
Chr22:45996298 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.309C>G (p.Ala103=) single nucleotide variant not provided [RCV000734783] Chr22:45525666 [GRCh38]
Chr22:45921546 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31(chr22:45769244-46630634)x1 copy number loss See cases [RCV000446891] Chr22:45769244..46630634 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_006486.3(FBLN1):c.1973-12C>G single nucleotide variant not specified [RCV000616511] Chr22:45600295 [GRCh38]
Chr22:45996175 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006486.3(FBLN1):c.1573+327C>A single nucleotide variant not provided [RCV001540719] Chr22:45549071 [GRCh38]
Chr22:45944951 [GRCh37]
Chr22:22q13.31
benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707127] Chr22:45541504 [GRCh38]
Chr22:45937384 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001669328] Chr22:45525328 [GRCh38]
Chr22:45921208 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.2040T>C (p.Tyr680=) single nucleotide variant not provided [RCV000962895] Chr22:45600374 [GRCh38]
Chr22:45996254 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680490] Chr22:45576671 [GRCh38]
Chr22:45972551 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001612835] Chr22:45533310 [GRCh38]
Chr22:45929190 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1698-11350C>T single nucleotide variant not provided [RCV000762080] Chr22:45563161 [GRCh38]
Chr22:45959041 [GRCh37]
Chr22:22q13.31
likely benign
null single nucleotide variant not provided [RCV001691106] Chr22:45527554 [GRCh38]
Chr22:45923434 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001612885] Chr22:45525987 [GRCh38]
Chr22:45921867 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1459C>T (p.Leu487=) single nucleotide variant not provided [RCV000902375] Chr22:45548630 [GRCh38]
Chr22:45944510 [GRCh37]
Chr22:22q13.31
likely benign
NM_006486.3(FBLN1):c.923-7G>A single nucleotide variant not provided [RCV000966103] Chr22:45541222 [GRCh38]
Chr22:45937102 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.957C>T (p.Cys319=) single nucleotide variant not provided [RCV000966104] Chr22:45541263 [GRCh38]
Chr22:45937143 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1368C>T (p.Asn456=) single nucleotide variant not provided [RCV000882489] Chr22:45547131 [GRCh38]
Chr22:45943011 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.922+6A>C single nucleotide variant not provided [RCV000879203] Chr22:45535343 [GRCh38]
Chr22:45931223 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.312A>G (p.Thr104=) single nucleotide variant not provided [RCV000970930] Chr22:45525669 [GRCh38]
Chr22:45921549 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.87G>A (p.Ala29=) single nucleotide variant not provided [RCV000902305] Chr22:45518689 [GRCh38]
Chr22:45914569 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_006486.3(FBLN1):c.1866G>A (p.Thr622=) single nucleotide variant not provided [RCV000929250] Chr22:45577002 [GRCh38]
Chr22:45972882 [GRCh37]
Chr22:22q13.31
likely benign
NM_006486.3(FBLN1):c.185+4C>T single nucleotide variant not provided [RCV000969753] Chr22:45518791 [GRCh38]
Chr22:45914671 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1872G>A (p.Pro624=) single nucleotide variant not provided [RCV000962894] Chr22:45577008 [GRCh38]
Chr22:45972888 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1120G>A (p.Val374Met) single nucleotide variant not provided [RCV000908968] Chr22:45542208 [GRCh38]
Chr22:45938088 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln) single nucleotide variant Fetal akinesia sequence [RCV000855496] Chr22:45600325 [GRCh38]
Chr22:45996205 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) single nucleotide variant Synpolydactyly 2 [RCV001702936]|not provided [RCV001621249] Chr22:45541269 [GRCh38]
Chr22:45937149 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654115] Chr22:45600229 [GRCh38]
Chr22:45996109 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001690868] Chr22:45533697 [GRCh38]
Chr22:45929577 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638392] Chr22:45599988 [GRCh38]
Chr22:45995868 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639171] Chr22:45531583 [GRCh38]
Chr22:45927463 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001710183] Chr22:45518795 [GRCh38]
Chr22:45914675 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639712] Chr22:45531232 [GRCh38]
Chr22:45927112 [GRCh37]
Chr22:22q13.31
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689065] Chr22:45600086 [GRCh38]
Chr22:45995966 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682331] Chr22:45532782 [GRCh38]
Chr22:45928662 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001611637] Chr22:45548291 [GRCh38]
Chr22:45944171 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639949] Chr22:45550734 [GRCh38]
Chr22:45946614 [GRCh37]
Chr22:22q13.31
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001652562] Chr22:45562805 [GRCh38]
Chr22:45958685 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.2046C>T (p.Val682=) single nucleotide variant not provided [RCV000909779] Chr22:45600380 [GRCh38]
Chr22:45996260 [GRCh37]
Chr22:22q13.31
likely benign
NM_006486.3(FBLN1):c.1542C>T (p.Tyr514=) single nucleotide variant not provided [RCV000892774] Chr22:45548713 [GRCh38]
Chr22:45944593 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr) single nucleotide variant not provided [RCV000973631] Chr22:45550608 [GRCh38]
Chr22:45946488 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.484+5C>A single nucleotide variant not provided [RCV000955992] Chr22:45528014 [GRCh38]
Chr22:45923894 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.30C>A (p.Val10=) single nucleotide variant not provided [RCV000933969] Chr22:45503015 [GRCh38]
Chr22:45898895 [GRCh37]
Chr22:22q13.31
likely benign
null single nucleotide variant not provided [RCV001621037] Chr22:45541498 [GRCh38]
Chr22:45937378 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001637633] Chr22:45528232 [GRCh38]
Chr22:45924112 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001596686] Chr22:45527745 [GRCh38]
Chr22:45923625 [GRCh37]
Chr22:22q13.31
benign
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) single nucleotide variant not provided [RCV001720620] Chr22:45600230 [GRCh38]
Chr22:45996110 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654566] Chr22:45576730 [GRCh38]
Chr22:45972610 [GRCh37]
Chr22:22q13.31
benign
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) single nucleotide variant not provided [RCV001720692] Chr22:45548389 [GRCh38]
Chr22:45944269 [GRCh37]
Chr22:22q13.31
benign
null deletion not provided [RCV001695783] Chr22:45547387..45547388 [GRCh38]
Chr22:45943267..45943268 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C duplication not provided [RCV001687354] Chr22:45528121..45528122 [GRCh38]
Chr22:45924001..45924002 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001618733] Chr22:45526003 [GRCh38]
Chr22:45921883 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001618885] Chr22:45531568 [GRCh38]
Chr22:45927448 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657642] Chr22:45527540 [GRCh38]
Chr22:45923420 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657333] Chr22:45557854 [GRCh38]
Chr22:45953734 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001620084] Chr22:45531165 [GRCh38]
Chr22:45927045 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001616123] Chr22:45528293 [GRCh38]
Chr22:45924173 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001621837] Chr22:45502712 [GRCh38]
Chr22:45898592 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.321+73C>T single nucleotide variant not provided [RCV001539135] Chr22:45525751 [GRCh38]
Chr22:45921631 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, deletion not provided [RCV001639428] Chr22:45533715 [GRCh38]
Chr22:45929595 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001596287] Chr22:45533468 [GRCh38]
Chr22:45929348 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001637523] Chr22:45532961 [GRCh38]
Chr22:45928841 [GRCh37]
Chr22:22q13.31
benign
null duplication not provided [RCV001621197] Chr22:45534194..45534195 [GRCh38]
Chr22:45930074..45930075 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656663] Chr22:45546846 [GRCh38]
Chr22:45942726 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001670104] Chr22:45532780 [GRCh38]
Chr22:45928660 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001684481] Chr22:45565333 [GRCh38]
Chr22:45961213 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001667723] Chr22:45531340 [GRCh38]
Chr22:45927220 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001614557] Chr22:45532871 [GRCh38]
Chr22:45928751 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001696272] Chr22:45542458 [GRCh38]
Chr22:45938338 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001693211] Chr22:45518812 [GRCh38]
Chr22:45914692 [GRCh37]
Chr22:22q13.31
benign
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) single nucleotide variant Synpolydactyly 2 [RCV001702191] Chr22:45527947 [GRCh38]
Chr22:45923827 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001667110] Chr22:45535382 [GRCh38]
Chr22:45931262 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001681997] Chr22:45528214 [GRCh38]
Chr22:45924094 [GRCh37]
Chr22:22q13.31
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649324] Chr22:45531162 [GRCh38]
Chr22:45927042 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001666155] Chr22:45519087 [GRCh38]
Chr22:45914967 [GRCh37]
Chr22:22q13.31
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001652453] Chr22:45502794 [GRCh38]
Chr22:45898674 [GRCh37]
Chr22:22q13.31
benign
null duplication not provided [RCV001696625] Chr22:45547386..45547387 [GRCh38]
Chr22:45943266..45943267 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001683887] Chr22:45558149 [GRCh38]
Chr22:45954029 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001709261] Chr22:45558398 [GRCh38]
Chr22:45954278 [GRCh37]
Chr22:22q13.31
benign
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln) single nucleotide variant Synpolydactyly 2 [RCV001332774] Chr22:45503017 [GRCh38]
Chr22:45898897 [GRCh37]
Chr22:22q13.31
uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_006486.3(FBLN1):c.80-101G>A single nucleotide variant not provided [RCV001538713] Chr22:45518581 [GRCh38]
Chr22:45914461 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653178] Chr22:45532866 [GRCh38]
Chr22:45928746 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001671035] Chr22:45600413 [GRCh38]
Chr22:45996293 [GRCh37]
Chr22:22q13.31
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715015] Chr22:45541181 [GRCh38]
Chr22:45937061 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679684] Chr22:45547323 [GRCh38]
Chr22:45943203 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001666903] Chr22:45533320 [GRCh38]
Chr22:45929200 [GRCh37]
Chr22:22q13.31
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645771] Chr22:45533734 [GRCh38]
Chr22:45929614 [GRCh37]
Chr22:22q13.31
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688598] Chr22:45563457 [GRCh38]
Chr22:45959337 [GRCh37]
Chr22:22q13.31
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001687164] Chr22:45531000 [GRCh38]
Chr22:45926880 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001671359] Chr22:45518661 [GRCh38]
Chr22:45914541 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001671951] Chr22:45533511 [GRCh38]
Chr22:45929391 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001691578] Chr22:45525479 [GRCh38]
Chr22:45921359 [GRCh37]
Chr22:22q13.31
benign
null deletion not provided [RCV001617378] Chr22:45547387 [GRCh38]
Chr22:45943267 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.185+276_185+277insCTCTGCCACAGCTGGGCAGCTG insertion not provided [RCV001539916] Chr22:45519056..45519057 [GRCh38]
Chr22:45914936..45914937 [GRCh37]
Chr22:22q13.31
benign
NM_006486.3(FBLN1):c.647-214A>C single nucleotide variant not provided [RCV001536916] Chr22:45533547 [GRCh38]
Chr22:45929427 [GRCh37]
Chr22:22q13.31
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3600 AgrOrtholog
COSMIC FBLN1 COSMIC
Ensembl Genes ENSG00000077942 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262722 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000331544 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000342212 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385521 UniProtKB/TrEMBL
  ENSP00000393812 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395329 UniProtKB/TrEMBL
  ENSP00000401077 UniProtKB/TrEMBL
  ENSP00000402963 UniProtKB/TrEMBL
  ENSP00000404024 UniProtKB/TrEMBL
  ENSP00000414584 UniProtKB/TrEMBL
  ENSP00000415160 UniProtKB/TrEMBL
  ENSP00000415289 UniProtKB/TrEMBL
  ENSP00000489422 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262722 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000327858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000340923 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402984 UniProtKB/TrEMBL
  ENST00000411478 UniProtKB/TrEMBL
  ENST00000437711 UniProtKB/TrEMBL
  ENST00000439835 UniProtKB/TrEMBL
  ENST00000442170 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000445110 UniProtKB/TrEMBL
  ENST00000451475 UniProtKB/TrEMBL
  ENST00000454279 UniProtKB/TrEMBL
  ENST00000455233 UniProtKB/TrEMBL
  ENST00000460300 UniProtKB/TrEMBL
GTEx ENSG00000077942 GTEx
HGNC ID HGNC:3600 ENTREZGENE
Human Proteome Map FBLN1 Human Proteome Map
InterPro Anaphylatoxin/fibulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
  Fibulin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2192 ENTREZGENE
OMIM 135820 OMIM
  608180 OMIM
Pfam ANATO UniProtKB/TrEMBL
  cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28013 PharmGKB
PIRSF Fibulin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANAPHYLATOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RRA4_HUMAN UniProtKB/TrEMBL
  B1AHL2_HUMAN UniProtKB/TrEMBL
  B1AHM5_HUMAN UniProtKB/TrEMBL
  B1AHM6_HUMAN UniProtKB/TrEMBL
  B1AHM7_HUMAN UniProtKB/TrEMBL
  B1AHM8_HUMAN UniProtKB/TrEMBL
  B1AHM9_HUMAN UniProtKB/TrEMBL
  B1AHN3_HUMAN UniProtKB/TrEMBL
  FBLN1_HUMAN UniProtKB/Swiss-Prot
  H7C1M6_HUMAN UniProtKB/TrEMBL
  P23142 ENTREZGENE
  Q8NBH6_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0QY42 UniProtKB/Swiss-Prot
  B1AHL4 UniProtKB/Swiss-Prot
  C9JMQ3 UniProtKB/TrEMBL
  P23143 UniProtKB/Swiss-Prot
  P23144 UniProtKB/Swiss-Prot
  P37888 UniProtKB/Swiss-Prot
  Q5TIC4 UniProtKB/Swiss-Prot
  Q8TBH8 UniProtKB/Swiss-Prot
  Q9HBQ5 UniProtKB/Swiss-Prot
  Q9UC21 UniProtKB/Swiss-Prot
  Q9UGR4 UniProtKB/Swiss-Prot
  Q9UH41 UniProtKB/Swiss-Prot