CTRB1 (chymotrypsinogen B1) - Rat Genome Database

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Gene: CTRB1 (chymotrypsinogen B1) Homo sapiens
Analyze
Symbol: CTRB1
Name: chymotrypsinogen B1
RGD ID: 731605
HGNC Page HGNC:2521
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chymotrypsinogen B; CTRB; FLJ42412; MGC88037
RGD Orthologs
Dog
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
GRCh381675,218,988 - 75,224,924 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,218,988 - 75,226,338 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,252,886 - 75,258,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,810,385 - 73,816,323 (+)NCBINCBI36Build 36hg18NCBI36
Build 341673,814,165 - 73,816,322NCBI
Celera1659,548,883 - 59,552,368 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,006,500 - 61,009,611 (+)NCBIHuRef
CHM1_11676,664,989 - 76,670,941 (+)NCBICHM1_1
T2T-CHM13v2.01681,265,733 - 81,271,673 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process
digestion  (IEA)
proteolysis  (IBA,IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Pancreatic gene expression is altered during acute experimental pancreatitis in the rat. Iovanna JL, etal., Am J Physiol. 1991 Sep;261(3 Pt 1):G485-9.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:511932   PMID:2071140   PMID:2435303   PMID:2456616   PMID:2789125   PMID:2917002   PMID:6983488   PMID:8186414   PMID:10713514   PMID:12477932   PMID:14702039   PMID:15012588  
PMID:15489334   PMID:19844255   PMID:21873635   PMID:25086665   PMID:26186194   PMID:28011711   PMID:28514442   PMID:28754779   PMID:28951524   PMID:33036922   PMID:33961781  


Genomics

Comparative Map Data
CTRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381675,218,988 - 75,224,924 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1675,218,988 - 75,226,338 (+)EnsemblGRCh38hg38GRCh38
GRCh371675,252,886 - 75,258,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361673,810,385 - 73,816,323 (+)NCBINCBI36Build 36hg18NCBI36
Build 341673,814,165 - 73,816,322NCBI
Celera1659,548,883 - 59,552,368 (+)NCBICelera
Cytogenetic Map16q23.1NCBI
HuRef1661,006,500 - 61,009,611 (+)NCBIHuRef
CHM1_11676,664,989 - 76,670,941 (+)NCBICHM1_1
T2T-CHM13v2.01681,265,733 - 81,271,673 (+)NCBIT2T-CHM13v2.0
CTRB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1575,514,065 - 75,518,690 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha575,490,779 - 75,495,510 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0575,870,777 - 75,875,455 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl575,870,748 - 75,875,438 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1575,762,968 - 75,767,695 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0575,597,757 - 75,602,500 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0576,089,267 - 76,093,945 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in CTRB1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1		 pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1 copy number loss See cases [RCV000053357] Chr16:73049467..82576326 [GRCh38]
Chr16:73083366..82609931 [GRCh37]
Chr16:71640867..81167432 [NCBI36]
Chr16:16q22.3-23.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]|See cases [RCV000053358] Chr16:75163906..78064640 [GRCh38]
Chr16:75197804..78098537 [GRCh37]
Chr16:73755305..76656038 [NCBI36]
Chr16:16q23.1		 pathogenic
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 copy number gain See cases [RCV000053868] Chr16:73917167..75319927 [GRCh38]
Chr16:73951066..75353825 [GRCh37]
Chr16:72508567..73911326 [NCBI36]
Chr16:16q22.3-23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74658508-75378014)x3 copy number gain See cases [RCV000053893] Chr16:74658508..75378014 [GRCh38]
Chr16:74692406..75411912 [GRCh37]
Chr16:73249907..73969413 [NCBI36]
Chr16:16q23.1		 uncertain significance
NM_001906.6(CTRB1):c.633C>T (p.Gly211=) single nucleotide variant Malignant tumor of prostate [RCV000149121] Chr16:75224707 [GRCh38]
Chr16:75258605 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1		 pathogenic
GRCh38/hg38 16q23.1(chr16:74881191-75310294)x1 copy number loss See cases [RCV000135363] Chr16:74881191..75310294 [GRCh38]
Chr16:74915089..75344192 [GRCh37]
Chr16:73472590..73901693 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3 copy number gain See cases [RCV000139130] Chr16:74811982..75698467 [GRCh38]
Chr16:74845880..75732365 [GRCh37]
Chr16:73403381..74289866 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q23.1(chr16:74688486-75377736)x3 copy number gain See cases [RCV000141922] Chr16:74688486..75377736 [GRCh38]
Chr16:74722384..75411634 [GRCh37]
Chr16:73279885..73969135 [NCBI36]
Chr16:16q23.1		 uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1 copy number loss See cases [RCV000512133] Chr16:74150909..77077326 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001025200.4(CTRB2):c.30= (p.Trp10=) single nucleotide variant Inborn genetic diseases [RCV003293013] Chr16:75219037 [GRCh38]
Chr16:75252935 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q23.1(chr16:75225021-75533658)x3 copy number gain not provided [RCV000848186] Chr16:75225021..75533658 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:74356233-75432089)x1 copy number loss not provided [RCV001006805] Chr16:74356233..75432089 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1 copy number loss not provided [RCV000847084] Chr16:72677179..77439111 [GRCh37]
Chr16:16q22.2-23.1		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
GRCh37/hg19 16q23.1(chr16:75064591-75549654)x1 copy number loss not provided [RCV001258649] Chr16:75064591..75549654 [GRCh37]
Chr16:16q23.1		 uncertain significance
NC_000016.9:g.(?_74748068)_(75513746_?)del deletion Macular corneal dystrophy [RCV001949688] Chr16:74748068..75513746 [GRCh37]
Chr16:16q23.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_74485954)_(75339100_?)dup duplication Spastic paraplegia [RCV003122645] Chr16:74485954..75339100 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4 copy number gain not provided [RCV002475008] Chr16:73673334..76105189 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
GRCh37/hg19 16q23.1(chr16:75164013-75256868)x1 copy number loss not provided [RCV002472465] Chr16:75164013..75256868 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1 copy number loss not provided [RCV002475848] Chr16:73858079..75855162 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1 copy number loss not provided [RCV002475774] Chr16:73673334..78137887 [GRCh37]
Chr16:16q22.3-23.1		 uncertain significance
NM_001025200.4(CTRB2):c.773A>C (p.Lys258Thr) single nucleotide variant Inborn genetic diseases [RCV002860671] Chr16:75224847 [GRCh38]
Chr16:75258745 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.566C>T (p.Ser189Phe) single nucleotide variant Inborn genetic diseases [RCV002753756] Chr16:75224124 [GRCh38]
Chr16:75258022 [GRCh37]
Chr16:16q23.1		 likely benign
NM_001025200.4(CTRB2):c.19C>T (p.Leu7Phe) single nucleotide variant Inborn genetic diseases [RCV002905915] Chr16:75219026 [GRCh38]
Chr16:75252924 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.8= (p.Phe3=) single nucleotide variant Inborn genetic diseases [RCV002793974] Chr16:75219015 [GRCh38]
Chr16:75252913 [GRCh37]
Chr16:16q23.1		 likely benign
NM_001025200.4(CTRB2):c.166G>A (p.Gly56Ser) single nucleotide variant Inborn genetic diseases [RCV002868207] Chr16:75222978 [GRCh38]
Chr16:75256876 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.412G>A (p.Ala138Thr) single nucleotide variant Inborn genetic diseases [RCV002978461] Chr16:75223544 [GRCh38]
Chr16:75257442 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.229G>A (p.Gly77Arg) single nucleotide variant Inborn genetic diseases [RCV002977957] Chr16:75223041 [GRCh38]
Chr16:75256939 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.311C>A (p.Ala104Asp) single nucleotide variant Inborn genetic diseases [RCV002758447] Chr16:75223215 [GRCh38]
Chr16:75257113 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.590T>C (p.Val197Ala) single nucleotide variant Inborn genetic diseases [RCV002758508] Chr16:75224148 [GRCh38]
Chr16:75258046 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.121G>A (p.Val41Ile) single nucleotide variant Inborn genetic diseases [RCV002956472] Chr16:75222836 [GRCh38]
Chr16:75256734 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.586G>A (p.Asp196Asn) single nucleotide variant Inborn genetic diseases [RCV002645403] Chr16:75224144 [GRCh38]
Chr16:75258042 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.706C>A (p.Arg236Ser) single nucleotide variant Inborn genetic diseases [RCV002826420] Chr16:75224780 [GRCh38]
Chr16:75258678 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.643G>A (p.Gly215Ser) single nucleotide variant Inborn genetic diseases [RCV002984564] Chr16:75224717 [GRCh38]
Chr16:75258615 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.530C>T (p.Ala177Val) single nucleotide variant Inborn genetic diseases [RCV002891989] Chr16:75224088 [GRCh38]
Chr16:75257986 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.578G>A (p.Arg193Lys) single nucleotide variant Inborn genetic diseases [RCV002744951] Chr16:75224136 [GRCh38]
Chr16:75258034 [GRCh37]
Chr16:16q23.1		 likely benign
NM_001025200.4(CTRB2):c.637T>C (p.Ser213Pro) single nucleotide variant Inborn genetic diseases [RCV002920573] Chr16:75224711 [GRCh38]
Chr16:75258609 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001906.4:c.742C>T single nucleotide variant Inborn genetic diseases [RCV003256334] Chr16:75224816 [GRCh38]
Chr16:75258714 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.253G>A (p.Val85Met) single nucleotide variant Inborn genetic diseases [RCV003202489] Chr16:75223157 [GRCh38]
Chr16:75257055 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.73C>A (p.His25Asn) single nucleotide variant Inborn genetic diseases [RCV003173881] Chr16:75222788 [GRCh38]
Chr16:75256686 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001906.6(CTRB1):c.604G>A (p.Gly202Arg) single nucleotide variant Inborn genetic diseases [RCV003200310] Chr16:75224162 [GRCh38]
Chr16:75258060 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.98G>A (p.Arg33Lys) single nucleotide variant Inborn genetic diseases [RCV003370374] Chr16:75222813 [GRCh38]
Chr16:75256711 [GRCh37]
Chr16:16q23.1		 uncertain significance
NM_001025200.4(CTRB2):c.122T>C (p.Val41Ala) single nucleotide variant Inborn genetic diseases [RCV003348107] Chr16:75222837 [GRCh38]
Chr16:75256735 [GRCh37]
Chr16:16q23.1		 uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3 copy number gain not provided [RCV003485121] Chr16:70607067..81561138 [GRCh37]
Chr16:16q22.1-23.2		 pathogenic
NM_001025200.4(CTRB2):c.198C>T (p.Ser66=) single nucleotide variant not provided [RCV003411425] Chr16:75223010 [GRCh38]
Chr16:75256908 [GRCh37]
Chr16:16q23.1		 likely benign
GRCh37/hg19 16q22.3-23.1(chr16:74079694-75352818)x1 copy number loss not specified [RCV003987133] Chr16:74079694..75352818 [GRCh37]
Chr16:16q22.3-23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:721
Count of miRNA genes:554
Interacting mature miRNAs:609
Transcripts:ENST00000361017, ENST00000495583
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
RH71378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,258,633 - 75,258,818UniSTSGRCh37
Build 361673,816,134 - 73,816,319RGDNCBI36
Celera1659,552,179 - 59,552,364RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,009,422 - 61,009,607UniSTS
GeneMap99-GB4 RH Map16446.75UniSTS
NCBI RH Map16584.6UniSTS
GDB:310448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,258,621 - 75,258,761UniSTSGRCh37
Build 361673,816,122 - 73,816,262RGDNCBI36
Celera1659,552,167 - 59,552,307RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,009,410 - 61,009,550UniSTS
CTRB1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,257,053 - 75,257,400UniSTSGRCh37
GRCh371675,239,357 - 75,239,704UniSTSGRCh37
Build 361673,796,858 - 73,797,205RGDNCBI36
Celera1659,532,611 - 59,532,958RGD
HuRef1661,007,842 - 61,008,189UniSTS
HuRef1660,990,061 - 60,990,408UniSTS
STS-W60277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,258,621 - 75,258,819UniSTSGRCh37
Build 361673,816,122 - 73,816,320RGDNCBI36
Celera1659,552,167 - 59,552,365RGD
Cytogenetic Map16q23.1UniSTS
HuRef1661,009,410 - 61,009,608UniSTS
GeneMap99-GB4 RH Map16446.12UniSTS
NCBI RH Map16584.6UniSTS
RH66396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371675,238,093 - 75,238,718UniSTSGRCh37
GRCh371675,258,039 - 75,258,730UniSTSGRCh37
Celera1659,531,347 - 59,531,972UniSTS
Celera1659,551,585 - 59,552,276UniSTS
Cytogenetic Map16q23.1UniSTS
HuRef1661,008,828 - 61,009,519UniSTS
HuRef1660,988,797 - 60,989,422UniSTS
GeneMap99-GB4 RH Map16446.75UniSTS
NCBI RH Map16584.6UniSTS


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 3 1 2 1
Medium 65 70 56 10 29 7 95 44 75 2 45 36 2 44 69 1
Low 1230 1277 926 238 603 154 1758 892 1511 63 837 648 84 544 1186
Below cutoff 610 940 341 114 281 75 1534 852 1544 130 294 483 47 365 1065 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000361017   ⟹   ENSP00000354294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,218,988 - 75,224,924 (+)Ensembl
RefSeq Acc Id: ENST00000495583   ⟹   ENSP00000463301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,222,610 - 75,223,607 (+)Ensembl
RefSeq Acc Id: ENST00000642378   ⟹   ENSP00000493978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1675,224,817 - 75,226,338 (+)Ensembl
RefSeq Acc Id: NM_001329190   ⟹   NP_001316119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,218,988 - 75,224,924 (+)NCBI
T2T-CHM13v2.01681,265,733 - 81,271,673 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001906   ⟹   NP_001897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,218,988 - 75,224,924 (+)NCBI
GRCh371675,252,884 - 75,258,822 (+)ENTREZGENE
Build 361673,810,385 - 73,816,323 (+)NCBI Archive
HuRef1661,006,500 - 61,009,611 (+)ENTREZGENE
CHM1_11676,664,989 - 76,670,941 (+)NCBI
T2T-CHM13v2.01681,265,733 - 81,271,673 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001897   ⟸   NM_001906
- Peptide Label: isoform 1 precursor
- UniProtKB: P17538 (UniProtKB/Swiss-Prot),   A0A2R8YCR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316119   ⟸   NM_001329190
- Peptide Label: isoform 2 precursor
- UniProtKB: P17538 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000354294   ⟸   ENST00000361017
RefSeq Acc Id: ENSP00000463301   ⟸   ENST00000495583
RefSeq Acc Id: ENSP00000493978   ⟸   ENST00000642378
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17538-F1-model_v2 AlphaFold P17538 1-263 view protein structure

Promoters
RGD ID:7232849
Promoter ID:EPDNEW_H22170
Type:multiple initiation site
Name:CTRB1_1
Description:chymotrypsinogen B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381675,218,988 - 75,219,048EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2521 AgrOrtholog
COSMIC CTRB1 COSMIC
Ensembl Genes ENSG00000168925 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285346 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361017 ENTREZGENE
  ENST00000361017.9 UniProtKB/Swiss-Prot
  ENST00000495583.1 UniProtKB/TrEMBL
  ENST00000642378.1 UniProtKB/TrEMBL
  ENST00000645511.1 UniProtKB/TrEMBL
  ENST00000645757.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168925 GTEx
  ENSG00000285346 GTEx
HGNC ID HGNC:2521 ENTREZGENE
Human Proteome Map CTRB1 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1504 UniProtKB/Swiss-Prot
NCBI Gene 1504 ENTREZGENE
OMIM 118890 OMIM
PANTHER CHYMOTRYPSIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CHYMOTRYPSINOGEN B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27022 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4E9_HUMAN UniProtKB/TrEMBL
  A0A2R8YCR2 ENTREZGENE
  A0A2R8YG87_HUMAN UniProtKB/TrEMBL
  CTRB1_HUMAN UniProtKB/Swiss-Prot
  J3QKZ2_HUMAN UniProtKB/TrEMBL
  P17538 ENTREZGENE