CEL (carboxyl ester lipase) - Rat Genome Database

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Gene: CEL (carboxyl ester lipase) Homo sapiens
Analyze
Symbol: CEL
Name: carboxyl ester lipase
RGD ID: 737498
HGNC Page HGNC:1848
Description: Predicted to enable several functions, including lipase activity; neurexin family protein binding activity; and retinyl-palmitate esterase activity. Involved in cholesterol catabolic process; intestinal cholesterol absorption; and pancreatic juice secretion. Located in Golgi apparatus and endoplasmic reticulum. Implicated in lipomatosis; maturity-onset diabetes of the young type 8; type 1 diabetes mellitus; and type 2 diabetes mellitus. Biomarker of type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BAL; bile salt-activated lipase; bile salt-dependent lipase, oncofetal isoform; bile-salt-activated lipase; BSDL; BSSL; bucelipase; carboxyl ester hydrolase; carboxyl ester lipase (bile salt-stimulated lipase); CEase; CELL; cholesterol esterase; FAP; FAPP; fetoacinar pancreatic protein; LIPA; lysophospholipase, pancreatic; MODY8; pancreatic lysophospholipase; sterol esterase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: CELP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389133,061,981 - 133,071,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9133,061,981 - 133,071,861 (+)EnsemblGRCh38hg38GRCh38
GRCh379135,937,368 - 135,947,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,927,186 - 134,937,069 (+)NCBINCBI36Build 36hg18NCBI36
Build 349132,966,918 - 132,976,801NCBI
Celera9106,479,095 - 106,504,472 (+)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9105,431,068 - 105,440,909 (+)NCBIHuRef
CHM1_19136,087,941 - 136,097,924 (+)NCBICHM1_1
T2T-CHM13v2.09145,276,137 - 145,285,985 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-ethoxyethanol  (ISO)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nitrophenyl acetate  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
cyclophosphamide  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
dihydroxyacetone  (EXP,ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenpyroximate  (EXP)
ferroheme b  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
heme b  (ISO)
hydralazine  (EXP)
irinotecan  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isotretinoin  (EXP)
Lasiocarpine  (EXP)
lead diacetate  (ISO)
methyl methanesulfonate  (EXP)
N-methyl-N-nitrosourea  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
orlistat  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
pyrimidifen  (EXP)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
senecionine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sunitinib  (EXP)
taurocholic acid  (EXP)
tebufenpyrad  (EXP)
testosterone  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Pancreatic bile-salt-dependent lipase activity in serum of diabetic patients: is there a relationship with glycation? Caillol N, etal., Clin Sci (Lond). 1998 Feb;94(2):181-8.
2. Decrease in contents of pancreatic carboxyl ester lipase, phospholipase A2, and lingual lipase in rats with streptozotocin-induced diabetes. Duan RD and Sternby B, Scand J Gastroenterol. 1993 Mar;28(3):256-60.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Circulating antibodies against an exocrine pancreatic enzyme in type 1 diabetes. Panicot L, etal., Diabetes. 1999 Dec;48(12):2316-23.
7. Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase. Raeder H, etal., Diabetes. 2007 Feb;56(2):444-9.
8. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Raeder H, etal., Nat Genet. 2006 Jan;38(1):54-62. Epub 2005 Dec 20.
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1627550   PMID:1639390   PMID:1676983   PMID:1698625   PMID:1854805   PMID:1988041   PMID:1991511   PMID:2066663   PMID:2265692   PMID:2318975   PMID:2600091   PMID:3995055  
PMID:7350912   PMID:7350913   PMID:7514266   PMID:7578248   PMID:7588748   PMID:7654718   PMID:7691717   PMID:7768954   PMID:8424803   PMID:8601635   PMID:8639615   PMID:9244386  
PMID:9353334   PMID:9404644   PMID:9445398   PMID:9530636   PMID:9774442   PMID:9813053   PMID:10024660   PMID:11045623   PMID:11148205   PMID:11563913   PMID:11733511   PMID:11834744  
PMID:11945176   PMID:12031288   PMID:12110666   PMID:12166660   PMID:12477932   PMID:12721789   PMID:12821548   PMID:12853459   PMID:12857870   PMID:15114370   PMID:15841033   PMID:16266293  
PMID:16502470   PMID:17005819   PMID:18029348   PMID:18037996   PMID:18544793   PMID:18803939   PMID:19760265   PMID:19913121   PMID:19948975   PMID:20628086   PMID:21346236   PMID:21386960  
PMID:21784842   PMID:21865348   PMID:21873635   PMID:21988832   PMID:22412885   PMID:22956586   PMID:23376485   PMID:23395566   PMID:23533145   PMID:23770712   PMID:24062244   PMID:24624459  
PMID:25160620   PMID:25774637   PMID:26498142   PMID:27602750   PMID:27650499   PMID:27773618   PMID:27802312   PMID:29792621   PMID:30315106   PMID:30359675   PMID:31036489   PMID:31561066  
PMID:31622635   PMID:31963687   PMID:32007358   PMID:32906201   PMID:33079780   PMID:33417713   PMID:34850019   PMID:35486985  


Genomics

Comparative Map Data
CEL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389133,061,981 - 133,071,861 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9133,061,981 - 133,071,861 (+)EnsemblGRCh38hg38GRCh38
GRCh379135,937,368 - 135,947,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,927,186 - 134,937,069 (+)NCBINCBI36Build 36hg18NCBI36
Build 349132,966,918 - 132,976,801NCBI
Celera9106,479,095 - 106,504,472 (+)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9105,431,068 - 105,440,909 (+)NCBIHuRef
CHM1_19136,087,941 - 136,097,924 (+)NCBICHM1_1
T2T-CHM13v2.09145,276,137 - 145,285,985 (+)NCBIT2T-CHM13v2.0
Cel
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39228,445,831 - 28,453,415 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl228,445,807 - 28,453,415 (-)EnsemblGRCm39 Ensembl
GRCm38228,555,819 - 28,563,403 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl228,555,795 - 28,563,403 (-)EnsemblGRCm38mm10GRCm38
MGSCv37228,411,339 - 28,418,882 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36228,377,828 - 28,385,371 (-)NCBIMGSCv36mm8
Celera228,259,995 - 28,267,538 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.38NCBI
Cel
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2311,883,532 - 11,891,035 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl311,883,532 - 11,891,035 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx314,955,824 - 14,963,304 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0323,540,779 - 23,548,259 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0321,795,231 - 21,802,711 (-)NCBIRnor_WKY
Rnor_6.037,134,021 - 7,141,522 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl37,134,021 - 7,141,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0312,485,038 - 12,492,645 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.437,541,127 - 7,549,245 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.137,541,429 - 7,549,545 (-)NCBI
Celera36,664,206 - 6,672,217 (-)NCBICelera
Cytogenetic Map3p12NCBI
Cel
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555132,324,025 - 2,382,877 (+)NCBIChiLan1.0ChiLan1.0
CEL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19132,809,606 - 132,821,010 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9132,810,986 - 132,821,010 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09104,180,310 - 104,191,434 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CEL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1951,337,205 - 51,345,284 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl951,337,187 - 51,362,422 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha950,600,407 - 50,608,486 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0952,230,487 - 52,238,498 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl952,230,540 - 52,255,656 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1951,009,024 - 51,017,035 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0951,333,616 - 51,341,559 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0951,412,863 - 51,420,943 (-)NCBIUU_Cfam_GSD_1.0
Cel
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,691,971 - 199,702,102 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648719,463,182 - 19,469,900 (+)EnsemblSpeTri2.0
SpeTri2.0NW_00493648719,463,219 - 19,472,029 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1272,763,003 - 272,770,255 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11272,763,203 - 272,770,259 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21306,719,658 - 306,726,753 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CEL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1125,053,817 - 5,077,487 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl125,066,882 - 5,077,227 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607910,574,982 - 10,585,407 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CEL
99 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001807.6(CEL):c.1677del (p.Val560fs) deletion Maturity-onset diabetes of the young type 8 [RCV000019166] Chr9:133071179 [GRCh38]
Chr9:135946566 [GRCh37]
Chr9:9q34.13		 pathogenic
CEL, 1-BP DEL, 1785C deletion Maturity-onset diabetes of the young, type 8 [RCV000019167] Chr9:9q34.3 pathogenic
NM_001807.6(CEL):c.1776del (p.Val593fs) deletion Maturity-onset diabetes of the young type 8 [RCV000029467] Chr9:133071271 [GRCh38]
Chr9:135946658 [GRCh37]
Chr9:9q34.13		 likely pathogenic
CEL, 3-REPEAT VNTR variation Variant of unknown significance [RCV000054821] Chr9:9q34.3 likely pathogenic|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
NM_001807.6(CEL):c.358G>A (p.Val120Ile) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002507149]|Monogenic diabetes [RCV000664127] Chr9:133065057 [GRCh38]
Chr9:135940444 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1932G>C (p.Gly644=) single nucleotide variant not provided [RCV000116658] Chr9:133071434 [GRCh38]
Chr9:135946821 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1960T>G (p.Ser654Ala) single nucleotide variant not provided [RCV000116659] Chr9:133071462 [GRCh38]
Chr9:135946849 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) single nucleotide variant Diabetes mellitus type 1 [RCV000735342]|not provided [RCV000116660] Chr9:133071468 [GRCh38]
Chr9:135946855 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2064C>G (p.Gly688=) single nucleotide variant not provided [RCV001727572]|not specified [RCV000116662] Chr9:133071566 [GRCh38]
Chr9:135946953 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV000764815]|not provided [RCV000116663] Chr9:133071594 [GRCh38]
Chr9:135946981 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV003114264]|Monogenic diabetes [RCV000445521]|not provided [RCV000965122]|not specified [RCV000116656] Chr9:133065052 [GRCh38]
Chr9:135940439 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1710C>T (p.Pro570=) single nucleotide variant not provided [RCV001707527]|not specified [RCV000116657] Chr9:133071212 [GRCh38]
Chr9:135946599 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.1998C>G (p.Gly666=) single nucleotide variant not specified [RCV000116661] Chr9:133071500 [GRCh38]
Chr9:135946887 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.2030_2031insC (p.Pro678fs) insertion Maturity-onset diabetes of the young type 8 [RCV001294198] Chr9:133071532..133071533 [GRCh38]
Chr9:135946919..135946920 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_001807.6(CEL):c.2073dup (p.Val692fs) duplication Maturity-onset diabetes of the young type 8 [RCV001294200] Chr9:133071567..133071568 [GRCh38]
Chr9:135946954..135946955 [GRCh37]
Chr9:9q34.13		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.2007del (p.Val670fs) deletion Maturity-onset diabetes of the young type 8 [RCV001333969] Chr9:133071502 [GRCh38]
Chr9:135946889 [GRCh37]
Chr9:9q34.13		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
NM_001807.6(CEL):c.2134G>A (p.Ala712Thr) single nucleotide variant not provided [RCV001589087]|not specified [RCV000202709] Chr9:133071636 [GRCh38]
Chr9:135947023 [GRCh37]
Chr9:9q34.13		 benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV000953298]|not specified [RCV000203021] Chr9:133062009 [GRCh38]
Chr9:135937396 [GRCh37]
Chr9:9q34.13		 benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.895+140G>A single nucleotide variant not provided [RCV001575752] Chr9:133067345 [GRCh38]
Chr9:135942732 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.2172del (p.Val725fs) deletion Maturity-onset diabetes of the young type 8 [RCV001248966]|not provided [RCV000365428]|not specified [RCV002248511] Chr9:133071674 [GRCh38]
Chr9:135947061 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
GRCh37/hg19 9q34.2(chr9:135940490-135948528)x3 copy number gain See cases [RCV000449061] Chr9:135940490..135948528 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.1738G>C (p.Ala580Pro) single nucleotide variant not provided [RCV001571313] Chr9:133071240 [GRCh38]
Chr9:135946627 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.2(chr9:135947140-135962157)x3 copy number gain See cases [RCV000446813] Chr9:135947140..135962157 [GRCh37]
Chr9:9q34.2		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.2(chr9:135940490-135962157)x3 copy number gain See cases [RCV000446639] Chr9:135940490..135962157 [GRCh37]
Chr9:9q34.2		 benign|likely benign
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 copy number gain See cases [RCV000447436] Chr9:135797171..136245956 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001807.6(CEL):c.860C>T (p.Thr287Met) single nucleotide variant Monogenic diabetes [RCV000445378] Chr9:133067170 [GRCh38]
Chr9:135942557 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV003114576]|Monogenic diabetes [RCV000445444]|Transitory neonatal diabetes mellitus [RCV002226710]|not provided [RCV001796050]|not specified [RCV000600331] Chr9:133070628 [GRCh38]
Chr9:135946015 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.1619G>A (p.Arg540His) single nucleotide variant Monogenic diabetes [RCV000445507]|not provided [RCV001547623] Chr9:133071121 [GRCh38]
Chr9:135946508 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
GRCh37/hg19 9q34.2(chr9:135940490-135962360)x3 copy number gain See cases [RCV000447796] Chr9:135940490..135962360 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_001807.6(CEL):c.347G>A (p.Arg116Gln) single nucleotide variant not specified [RCV000504377] Chr9:133065046 [GRCh38]
Chr9:135940433 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.687C>T (p.Asn229=) single nucleotide variant not specified [RCV000500195] Chr9:133066855 [GRCh38]
Chr9:135942242 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.979G>A (p.Ala327Thr) single nucleotide variant not specified [RCV000502601] Chr9:133068755 [GRCh38]
Chr9:135944142 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.709A>G (p.Ile237Val) single nucleotide variant Monogenic diabetes [RCV000664128] Chr9:133066877 [GRCh38]
Chr9:135942264 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.217+34C>T single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV000714808] Chr9:133064588 [GRCh38]
Chr9:135939975 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
NM_001807.6(CEL):c.466_479del (p.Val156fs) deletion not provided [RCV001566277] Chr9:133065163..133065176 [GRCh38]
Chr9:135940550..135940563 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.572T>A (p.Ile191Asn) single nucleotide variant not provided [RCV001566902] Chr9:133066563 [GRCh38]
Chr9:135941950 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.2(chr9:135936837-135968086)x3 copy number gain not provided [RCV000748724] Chr9:135936837..135968086 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:135939032-135955672)x3 copy number gain not provided [RCV000748725] Chr9:135939032..135955672 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:135943509-135957452)x3 copy number gain not provided [RCV000748726] Chr9:135943509..135957452 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:135947165-135968086)x3 copy number gain not provided [RCV000748727] Chr9:135947165..135968086 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:135947165-135971724)x3 copy number gain not provided [RCV000748728] Chr9:135947165..135971724 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9q34.2(chr9:135947165-135972407)x3 copy number gain not provided [RCV000748729] Chr9:135947165..135972407 [GRCh37]
Chr9:9q34.2		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.1079C>T (p.Thr360Met) single nucleotide variant not provided [RCV001531752] Chr9:133068855 [GRCh38]
Chr9:135944242 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1484+40G>A single nucleotide variant not provided [RCV001581683] Chr9:133070698 [GRCh38]
Chr9:135946085 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1735A>G (p.Thr579Ala) single nucleotide variant not provided [RCV001577253] Chr9:133071237 [GRCh38]
Chr9:135946624 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135771850)_(137038881_?)dup duplication Tuberous sclerosis 1 [RCV001033564] Chr9:135771850..137038881 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001807.6(CEL):c.1716C>G (p.Pro572=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002506675]|not provided [RCV001567701] Chr9:133071218 [GRCh38]
Chr9:135946605 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1485-53C>G single nucleotide variant not provided [RCV001583059] Chr9:133070934 [GRCh38]
Chr9:135946321 [GRCh37]
Chr9:9q34.13		 likely benign
Single allele single nucleotide variant not provided [RCV001568464] Chr9:133072045 [GRCh38]
Chr9:135947432 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1659C>G (p.Thr553=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002496038]|not provided [RCV001709429] Chr9:133071161 [GRCh38]
Chr9:135946548 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.495C>T (p.Val165=) single nucleotide variant not provided [RCV000906693] Chr9:133065194 [GRCh38]
Chr9:135940581 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.965A>G (p.Asn322Ser) single nucleotide variant not provided [RCV000972464] Chr9:133068741 [GRCh38]
Chr9:135944128 [GRCh37]
Chr9:9q34.13		 benign
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NM_001807.6(CEL):c.240C>A (p.Phe80Leu) single nucleotide variant not provided [RCV001813866] Chr9:133064662 [GRCh38]
Chr9:135940049 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002491491]|Monogenic diabetes [RCV001174433] Chr9:133067160 [GRCh38]
Chr9:135942547 [GRCh37]
Chr9:9q34.13		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3 copy number gain not provided [RCV000845710] Chr9:135699918..136011082 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV001027986] Chr9:133066871 [GRCh38]
Chr9:135942258 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_001807.6(CEL):c.539-75T>C single nucleotide variant not provided [RCV001571541] Chr9:133066455 [GRCh38]
Chr9:135941842 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1733A>G (p.Glu578Gly) single nucleotide variant not provided [RCV001571882] Chr9:133071235 [GRCh38]
Chr9:135946622 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.67-26del deletion not provided [RCV001545748] Chr9:133064378 [GRCh38]
Chr9:135939765 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.341-48C>G single nucleotide variant not provided [RCV001590356] Chr9:133064992 [GRCh38]
Chr9:135940379 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1083-33G>C single nucleotide variant not provided [RCV001562707] Chr9:133069023 [GRCh38]
Chr9:135944410 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1801G>C (p.Ala601Pro) single nucleotide variant not provided [RCV001557780] Chr9:133071303 [GRCh38]
Chr9:135946690 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1226C>T (p.Thr409Ile) single nucleotide variant not provided [RCV001689363] Chr9:133069199 [GRCh38]
Chr9:135944586 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1501G>C (p.Asp501His) single nucleotide variant not provided [RCV001711064] Chr9:133071003 [GRCh38]
Chr9:135946390 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.54G>A (p.Ala18=) single nucleotide variant not provided [RCV001559649]|not specified [RCV001821886] Chr9:133062056 [GRCh38]
Chr9:135937443 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.1436C>T (p.Thr479Ile) single nucleotide variant not provided [RCV001552858] Chr9:133070610 [GRCh38]
Chr9:135945997 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro) single nucleotide variant Inborn genetic diseases [RCV002568169]|not provided [RCV001529789]|not specified [RCV001796590] Chr9:133071336 [GRCh38]
Chr9:135946723 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_001807.6(CEL):c.402C>G (p.Gly134=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002507566]|not provided [RCV000885392] Chr9:133065101 [GRCh38]
Chr9:135940488 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NC_000009.11:g.(?_135771602)_(136769889_?)dup duplication Tuberous sclerosis 1 [RCV001033460] Chr9:135771602..136769889 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_001807.6(CEL):c.670-4G>A single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002495876]|not provided [RCV001547845] Chr9:133066834 [GRCh38]
Chr9:135942221 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1485-8C>T single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002495889]|not provided [RCV001557355] Chr9:133070979 [GRCh38]
Chr9:135946366 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.472G>A (p.Val158Met) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002468535] Chr9:133065171 [GRCh38]
Chr9:135940558 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.778-20G>T single nucleotide variant not provided [RCV001565005] Chr9:133067068 [GRCh38]
Chr9:135942455 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.67-306C>T single nucleotide variant not provided [RCV001547961] Chr9:133064098 [GRCh38]
Chr9:135939485 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1833G>C (p.Gly611=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002495907]|not provided [RCV001567994] Chr9:133071335 [GRCh38]
Chr9:135946722 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.67-121A>C single nucleotide variant not provided [RCV001677399] Chr9:133064283 [GRCh38]
Chr9:135939670 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1082+41A>G single nucleotide variant not provided [RCV001657548] Chr9:133068899 [GRCh38]
Chr9:135944286 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1677T>C (p.Pro559=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002476856]|not provided [RCV001552741] Chr9:133071179 [GRCh38]
Chr9:135946566 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1287-48C>T single nucleotide variant not provided [RCV001677869] Chr9:133070413 [GRCh38]
Chr9:135945800 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.2127_2192del (p.Thr711_Glu732del) deletion not provided [RCV001553515] Chr9:133071613..133071678 [GRCh38]
Chr9:135947000..135947065 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1828T>G (p.Ser610Ala) single nucleotide variant not provided [RCV001576403]|not specified [RCV001796604] Chr9:133071330 [GRCh38]
Chr9:135946717 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.895+224A>G single nucleotide variant not provided [RCV001560675] Chr9:133067429 [GRCh38]
Chr9:135942816 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1848G>C (p.Pro616=) single nucleotide variant not provided [RCV001550425] Chr9:133071350 [GRCh38]
Chr9:135946737 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.417C>T (p.Phe139=) single nucleotide variant not provided [RCV001555581]|not specified [RCV001821880] Chr9:133065116 [GRCh38]
Chr9:135940503 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1698C>T (p.Ser566=) single nucleotide variant not provided [RCV001574107] Chr9:133071200 [GRCh38]
Chr9:135946587 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.2106C>T (p.Pro702=) single nucleotide variant not provided [RCV001556333] Chr9:133071608 [GRCh38]
Chr9:135946995 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1412C>T (p.Thr471Met) single nucleotide variant not provided [RCV002467117] Chr9:133070586 [GRCh38]
Chr9:135945973 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1776dup (p.Val593fs) duplication Maturity-onset diabetes of the young type 8 [RCV001028021] Chr9:133071270..133071271 [GRCh38]
Chr9:135946657..135946658 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_001807.6(CEL):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV001649945] Chr9:133069137 [GRCh38]
Chr9:135944524 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.895+276C>A single nucleotide variant not provided [RCV001592057] Chr9:133067481 [GRCh38]
Chr9:135942868 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.67-46C>T single nucleotide variant not provided [RCV001564842] Chr9:133064358 [GRCh38]
Chr9:135939745 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1974del (p.Val659fs) deletion not specified [RCV001174608] Chr9:133071469 [GRCh38]
Chr9:135946856 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_001807.6(CEL):c.1692G>T (p.Gly564=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002488414]|not provided [RCV001583115] Chr9:133071194 [GRCh38]
Chr9:135946581 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1485-58C>T single nucleotide variant not provided [RCV001645942] Chr9:133070929 [GRCh38]
Chr9:135946316 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1689A>G (p.Thr563=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002495948]|not provided [RCV001582311] Chr9:133071191 [GRCh38]
Chr9:135946578 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1335C>T (p.Pro445=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002476894]|not provided [RCV001583852] Chr9:133070509 [GRCh38]
Chr9:135945896 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh37/hg19 9q34.2(chr9:135920220-136139686)x1 copy number loss not provided [RCV001006279] Chr9:135920220..136139686 [GRCh37]
Chr9:9q34.2		 uncertain significance
NM_001807.6(CEL):c.341-2A>G single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV001197664] Chr9:133065038 [GRCh38]
Chr9:135940425 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1420C>T (p.Arg474Trp) single nucleotide variant not provided [RCV001580928] Chr9:133070594 [GRCh38]
Chr9:135945981 [GRCh37]
Chr9:9q34.13		 likely benign
Single allele single nucleotide variant not provided [RCV001581313] Chr9:133061797 [GRCh38]
Chr9:135937184 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.61G>T (p.Ala21Ser) single nucleotide variant not provided [RCV001565103]|not specified [RCV001821895] Chr9:133062063 [GRCh38]
Chr9:135937450 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.2040dup (p.Val681fs) duplication Maturity-onset diabetes of the young type 8 [RCV001294199] Chr9:133071533..133071534 [GRCh38]
Chr9:135946920..135946921 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_001807.6(CEL):c.964A>C (p.Asn322His) single nucleotide variant Inborn genetic diseases [RCV001265771] Chr9:133068740 [GRCh38]
Chr9:135944127 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV001333971] Chr9:133071531 [GRCh38]
Chr9:135946918 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1211TGG[1] (p.Val405del) microsatellite not provided [RCV001356567] Chr9:133069183..133069185 [GRCh38]
Chr9:135944570..135944572 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV001332039] Chr9:133070576 [GRCh38]
Chr9:135945963 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2040del (p.Val681fs) deletion Maturity-onset diabetes of the young type 8 [RCV001333972] Chr9:133071534 [GRCh38]
Chr9:135946921 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_001807.6(CEL):c.2007dup (p.Val670fs) duplication Maturity-onset diabetes of the young type 8 [RCV001333970] Chr9:133071501..133071502 [GRCh38]
Chr9:135946888..135946889 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_001807.6(CEL):c.2026_2091del (p.Ala676_Asp697del) deletion not provided [RCV001536474] Chr9:133071469..133071534 [GRCh38]
Chr9:135946856..135946921 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.217+35G>A single nucleotide variant not provided [RCV001536724] Chr9:133064589 [GRCh38]
Chr9:135939976 [GRCh37]
Chr9:9q34.13		 likely benign
Single allele single nucleotide variant not provided [RCV001539692] Chr9:133061890 [GRCh38]
Chr9:135937277 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.432G>A (p.Leu144=) single nucleotide variant not provided [RCV001619298]|not specified [RCV001821933] Chr9:133065131 [GRCh38]
Chr9:135940518 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) single nucleotide variant not provided [RCV001590604] Chr9:133066545 [GRCh38]
Chr9:135941932 [GRCh37]
Chr9:9q34.13		 likely benign
Single allele single nucleotide variant not provided [RCV001588588] Chr9:133061658 [GRCh38]
Chr9:135937045 [GRCh37]
Chr9:9q34.13		 likely benign
Single allele single nucleotide variant not provided [RCV001583026] Chr9:133071962 [GRCh38]
Chr9:135947349 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.896-58G>A single nucleotide variant not provided [RCV001667962] Chr9:133068614 [GRCh38]
Chr9:135944001 [GRCh37]
Chr9:9q34.13		 benign
NM_001807.6(CEL):c.1287-89A>G single nucleotide variant not provided [RCV001592419] Chr9:133070372 [GRCh38]
Chr9:135945759 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.813C>T (p.Ala271=) single nucleotide variant not provided [RCV001727494] Chr9:133067123 [GRCh38]
Chr9:135942510 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV001733579]|not provided [RCV002508809] Chr9:133064759 [GRCh38]
Chr9:135940146 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_001807.6(CEL):c.1165G>A (p.Glu389Lys) single nucleotide variant not provided [RCV001767803] Chr9:133069138 [GRCh38]
Chr9:135944525 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.878C>T (p.Pro293Leu) single nucleotide variant not provided [RCV001773953] Chr9:133067188 [GRCh38]
Chr9:135942575 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) indel Maturity-onset diabetes of the young type 8 [RCV002503187]|not provided [RCV001754185] Chr9:133071175..133071186 [GRCh38]
Chr9:135946562..135946573 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2032C>G (p.Pro678Ala) single nucleotide variant not provided [RCV001795749] Chr9:133071534 [GRCh38]
Chr9:135946921 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.777+7G>A single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002506829]|not provided [RCV001795758] Chr9:133066952 [GRCh38]
Chr9:135942339 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1410C>T (p.Pro470=) single nucleotide variant not provided [RCV001796933]|not specified [RCV001795702] Chr9:133070584 [GRCh38]
Chr9:135945971 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.2026G>T (p.Ala676Ser) single nucleotide variant not provided [RCV001795747]|not specified [RCV001796934] Chr9:133071528 [GRCh38]
Chr9:135946915 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_001807.6(CEL):c.1449C>T (p.Ala483=) single nucleotide variant not specified [RCV001817553] Chr9:133070623 [GRCh38]
Chr9:135946010 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1998C>T (p.Gly666=) single nucleotide variant not provided [RCV001816521] Chr9:133071500 [GRCh38]
Chr9:135946887 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.2145G>C (p.Pro715=) single nucleotide variant not provided [RCV001816522] Chr9:133071647 [GRCh38]
Chr9:135947034 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.178A>G (p.Lys60Glu) single nucleotide variant not specified [RCV001817974] Chr9:133064515 [GRCh38]
Chr9:135939902 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.-13G>A single nucleotide variant not specified [RCV001819594] Chr9:133061990 [GRCh38]
Chr9:135937377 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.99G>C (p.Val33=) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002482361]|not specified [RCV001819595] Chr9:133064436 [GRCh38]
Chr9:135939823 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.132T>C (p.Gly44=) single nucleotide variant not specified [RCV001817481] Chr9:133064469 [GRCh38]
Chr9:135939856 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.998T>C (p.Ile333Thr) single nucleotide variant not specified [RCV001817567] Chr9:133068774 [GRCh38]
Chr9:135944161 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1333C>G (p.Pro445Ala) single nucleotide variant not specified [RCV001817980] Chr9:133070507 [GRCh38]
Chr9:135945894 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.383C>T (p.Ala128Val) single nucleotide variant Type 2 diabetes mellitus [RCV001848620] Chr9:133065082 [GRCh38]
Chr9:135940469 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135819930)_(135942602_?)dup duplication Tuberous sclerosis 1 [RCV001893715] Chr9:135819930..135942602 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NC_000009.11:g.(?_135819930)_(135946065_?)dup duplication Tuberous sclerosis 1 [RCV001913773] Chr9:135819930..135946065 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001807.6(CEL):c.895+2dup duplication Maturity-onset diabetes of the young type 8 [RCV002496164]|not provided [RCV002224519] Chr9:133067206..133067207 [GRCh38]
Chr9:135942593..135942594 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1799G>A (p.Gly600Glu) single nucleotide variant not provided [RCV002223659] Chr9:133071301 [GRCh38]
Chr9:135946688 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.717G>T (p.Gln239His) single nucleotide variant not provided [RCV002224338] Chr9:133066885 [GRCh38]
Chr9:135942272 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.400G>A (p.Gly134Ser) single nucleotide variant not provided [RCV002222312] Chr9:133065099 [GRCh38]
Chr9:135940486 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.615_618delinsAAA (p.Asn206fs) indel not provided [RCV002222314] Chr9:133066606..133066609 [GRCh38]
Chr9:135941993..135941996 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NC_000009.11:g.(?_135139626)_(140034216_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NC_000009.11:g.(?_133884602)_(135942612_?)dup duplication not provided [RCV003116502] Chr9:133884602..135942612 [GRCh37]
Chr9:9q34.12-34.2		 uncertain significance
NC_000009.11:g.(?_131857676)_(135942612_?)dup duplication not provided [RCV003116730] Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_001807.6(CEL):c.895+188dup duplication not provided [RCV002244495] Chr9:133067384..133067385 [GRCh38]
Chr9:135942771..135942772 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3 copy number gain not provided [RCV002473647] Chr9:135354006..135950908 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
Single allele deletion Maturity-onset diabetes of the young type 8 [RCV002468511] Chr9:133061291..133085367 [GRCh38]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.718A>G (p.Ser240Gly) single nucleotide variant Maturity-onset diabetes of the young type 8 [RCV002505914] Chr9:133066886 [GRCh38]
Chr9:135942273 [GRCh37]
Chr9:9q34.13		 uncertain significance
Single allele deletion Maturity-onset diabetes of the young type 8 [RCV002468505] Chr9:133063645..133082065 [GRCh38]
Chr9:9q34.13		 uncertain significance
Single allele duplication Maturity-onset diabetes of the young type 8 [RCV002468550] Chr9:133060489..133080495 [GRCh38]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1810G>A (p.Val604Met) single nucleotide variant Inborn genetic diseases [RCV002969127] Chr9:133071312 [GRCh38]
Chr9:135946699 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu) single nucleotide variant Inborn genetic diseases [RCV002817032] Chr9:133071145 [GRCh38]
Chr9:135946532 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1336G>A (p.Val446Ile) single nucleotide variant Inborn genetic diseases [RCV002682965] Chr9:133070510 [GRCh38]
Chr9:135945897 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.1366G>A (p.Ala456Thr) single nucleotide variant Inborn genetic diseases [RCV002860509] Chr9:133070540 [GRCh38]
Chr9:135945927 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1367C>G (p.Ala456Gly) single nucleotide variant Inborn genetic diseases [RCV002860510] Chr9:133070541 [GRCh38]
Chr9:135945928 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1734G>C (p.Glu578Asp) single nucleotide variant Inborn genetic diseases [RCV002818719] Chr9:133071236 [GRCh38]
Chr9:135946623 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.471C>G (p.Ile157Met) single nucleotide variant Inborn genetic diseases [RCV002762249] Chr9:133065170 [GRCh38]
Chr9:135940557 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1939C>G (p.Pro647Ala) single nucleotide variant Inborn genetic diseases [RCV002691955] Chr9:133071441 [GRCh38]
Chr9:135946828 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1283C>T (p.Ala428Val) single nucleotide variant Inborn genetic diseases [RCV002868595] Chr9:133069256 [GRCh38]
Chr9:135944643 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.883G>T (p.Ala295Ser) single nucleotide variant Inborn genetic diseases [RCV002887504] Chr9:133067193 [GRCh38]
Chr9:135942580 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1835C>G (p.Ala612Gly) single nucleotide variant Inborn genetic diseases [RCV002951005] Chr9:133071337 [GRCh38]
Chr9:135946724 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2162G>A (p.Gly721Glu) single nucleotide variant Inborn genetic diseases [RCV002704598] Chr9:133071664 [GRCh38]
Chr9:135947051 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001807.6(CEL):c.2164G>A (p.Ala722Thr) single nucleotide variant Inborn genetic diseases [RCV002704599] Chr9:133071666 [GRCh38]
Chr9:135947053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.957C>A (p.Asp319Glu) single nucleotide variant Inborn genetic diseases [RCV002854298] Chr9:133068733 [GRCh38]
Chr9:135944120 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1624T>C (p.Trp542Arg) single nucleotide variant Inborn genetic diseases [RCV002804763] Chr9:133071126 [GRCh38]
Chr9:135946513 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.239T>C (p.Phe80Ser) single nucleotide variant not provided [RCV002508412] Chr9:133064661 [GRCh38]
Chr9:135940048 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1145C>T (p.Thr382Met) single nucleotide variant Inborn genetic diseases [RCV002961515] Chr9:133069118 [GRCh38]
Chr9:135944505 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.781G>T (p.Ala261Ser) single nucleotide variant Inborn genetic diseases [RCV002896057] Chr9:133067091 [GRCh38]
Chr9:135942478 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1039A>G (p.Ile347Val) single nucleotide variant Inborn genetic diseases [RCV002879415] Chr9:133068815 [GRCh38]
Chr9:135944202 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2128G>A (p.Glu710Lys) single nucleotide variant Inborn genetic diseases [RCV002898069] Chr9:133071630 [GRCh38]
Chr9:135947017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.769G>C (p.Ala257Pro) single nucleotide variant Inborn genetic diseases [RCV002878302] Chr9:133066937 [GRCh38]
Chr9:135942324 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1777G>A (p.Val593Met) single nucleotide variant Inborn genetic diseases [RCV002655461] Chr9:133071279 [GRCh38]
Chr9:135946666 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1097A>G (p.Lys366Arg) single nucleotide variant Inborn genetic diseases [RCV002652355] Chr9:133069070 [GRCh38]
Chr9:135944457 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1747C>A (p.Pro583Thr) single nucleotide variant Inborn genetic diseases [RCV002724915] Chr9:133071249 [GRCh38]
Chr9:135946636 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.2165C>T (p.Ala722Val) single nucleotide variant Inborn genetic diseases [RCV002656230] Chr9:133071667 [GRCh38]
Chr9:135947054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_001807.6(CEL):c.1840C>G (p.Pro614Ala) single nucleotide variant Inborn genetic diseases [RCV002678516] Chr9:133071342 [GRCh38]
Chr9:135946729 [GRCh37]
Chr9:9q34.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:722
Count of miRNA genes:331
Interacting mature miRNAs:360
Transcripts:ENST00000351304, ENST00000372080
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.

Markers in Region
RH79630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,951,691 - 135,951,925UniSTSGRCh37
Build 369134,941,512 - 134,941,746RGDNCBI36
Celera9106,493,389 - 106,493,623RGD
Cytogenetic Map9q34.3UniSTS
HuRef9105,445,354 - 105,445,588UniSTS


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 4 3 5 2 1
Medium 130 64 306 16 41 9 194 40 493 62 201 85 8 39 133 1
Low 2189 2451 1264 490 1419 340 3685 1674 2955 278 1213 1429 160 1104 2270 2
Below cutoff 111 459 143 110 467 109 472 477 257 73 33 91 2 59 384 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF072711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF081673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE045879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS180412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M85201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372080   ⟹   ENSP00000361151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,061,981 - 133,071,861 (+)Ensembl
RefSeq Acc Id: ENST00000673714   ⟹   ENSP00000501111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,061,978 - 133,071,863 (+)Ensembl
RefSeq Acc Id: NM_001807   ⟹   NP_001798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,061,981 - 133,071,861 (+)NCBI
GRCh379135,936,741 - 135,947,250 (+)NCBI
Build 369134,927,186 - 134,937,069 (+)NCBI Archive
HuRef9105,431,068 - 105,440,909 (+)NCBI
CHM1_19136,087,941 - 136,097,924 (+)NCBI
T2T-CHM13v2.09145,276,137 - 145,285,985 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001798   ⟸   NM_001807
- Peptide Label: precursor
- UniProtKB: Q9UP41 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000501111   ⟸   ENST00000673714
RefSeq Acc Id: ENSP00000361151   ⟸   ENST00000372080
Protein Domains
Carboxylesterase type B   Mucin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19835-F1-model_v2 AlphaFold P19835 1-753 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1848 AgrOrtholog
COSMIC CEL COSMIC
Ensembl Genes ENSG00000170835 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000361151 ENTREZGENE
  ENSP00000361151.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372080 ENTREZGENE
  ENST00000372080.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170835 GTEx
HGNC ID HGNC:1848 ENTREZGENE
Human Proteome Map CEL Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbesteraseB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxylesterase_B_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxylesterase_B_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mucin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1056 UniProtKB/TrEMBL
NCBI Gene 1056 ENTREZGENE
OMIM 114840 OMIM
  609812 OMIM
PANTHER NEUROLIGIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43903:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COesterase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mucin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26391 PharmGKB
PROSITE CARBOXYLESTERASE_B_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBOXYLESTERASE_B_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DSX9_HUMAN UniProtKB/TrEMBL
  CEL_HUMAN UniProtKB/Swiss-Prot
  O75612_HUMAN UniProtKB/TrEMBL
  P19835 ENTREZGENE
  Q86SR3_HUMAN UniProtKB/TrEMBL
  Q9UP41 ENTREZGENE
UniProt Secondary Q16398 UniProtKB/Swiss-Prot
  Q5T7U7 UniProtKB/Swiss-Prot
  Q9UCH1 UniProtKB/Swiss-Prot
  Q9UP41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-19 CEL  carboxyl ester lipase    carboxyl ester lipase (bile salt-stimulated lipase)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CEL  carboxyl ester lipase (bile salt-stimulated lipase)  CEL  carboxyl ester lipase (bile salt-stimulated lipase)  Symbol and/or name change 5135510 APPROVED