CREB3L1 (cAMP responsive element binding protein 3 like 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: CREB3L1 (cAMP responsive element binding protein 3 like 1) Homo sapiens
Analyze
Symbol: CREB3L1
Name: cAMP responsive element binding protein 3 like 1
RGD ID: 1342471
HGNC Page HGNC:18856
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; SMAD binding activity; and sequence-specific double-stranded DNA binding activity. Involved in several processes, including negative regulation of macromolecule metabolic process; negative regulation of sprouting angiogenesis; and positive regulation of collagen biosynthetic process. Located in several cellular components, including chromatin; endoplasmic reticulum; and nucleus. Implicated in osteogenesis imperfecta type 16.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BBF-2 homolog; cAMP responsive element binding protein 3-like 1; cAMP-responsive element-binding protein 3-like protein 1; cyclic AMP-responsive element-binding protein 3-like protein 1; OASIS; OI16; old astrocyte specifically induced substance; old astrocyte specifically-induced substance
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
GRCh381146,277,662 - 46,321,409 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,277,662 - 46,321,409 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,299,213 - 46,342,959 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,255,804 - 46,299,548 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,256,135 - 46,299,546NCBI
Celera1146,447,593 - 46,490,563 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,006,120 - 46,049,912 (+)NCBIHuRef
CHM1_11146,297,481 - 46,341,263 (+)NCBICHM1_1
T2T-CHM13v2.01146,433,747 - 46,477,484 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (IDA,ISA)
endoplasmic reticulum  (IDA,IEA)
endoplasmic reticulum membrane  (IEA)
membrane  (IDA,IEA)
nucleus  (IDA,IEA,ISS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. The impact of the unfolded protein response on human disease. Wang S and Kaufman RJ, J Cell Biol. 2012 Jun 25;197(7):857-67. doi: 10.1083/jcb.201110131.
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:12054625   PMID:12477932   PMID:12805554   PMID:16236796   PMID:16344560   PMID:17721195   PMID:19274049   PMID:21041443   PMID:21516116  
PMID:21536545   PMID:21767813   PMID:21873635   PMID:21987447   PMID:22705851   PMID:22810586   PMID:23256041   PMID:23335989   PMID:23383089   PMID:23588368   PMID:23661758   PMID:23955342  
PMID:24126059   PMID:24242870   PMID:24441665   PMID:24722188   PMID:24896634   PMID:25310401   PMID:25353281   PMID:25416956   PMID:25625847   PMID:25910212   PMID:26110425   PMID:26558437  
PMID:26810754   PMID:26871637   PMID:26917262   PMID:27107014   PMID:27121396   PMID:27499293   PMID:28473536   PMID:28514442   PMID:28750683   PMID:28817112   PMID:29093023   PMID:29531016  
PMID:29892012   PMID:30021884   PMID:30103710   PMID:30657919   PMID:31207160   PMID:31515488   PMID:32234057   PMID:32296183   PMID:33150680   PMID:33961781   PMID:34990868   PMID:35689957  
PMID:35802566  


Genomics

Comparative Map Data
CREB3L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,277,662 - 46,321,409 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1146,277,662 - 46,321,409 (+)EnsemblGRCh38hg38GRCh38
GRCh371146,299,213 - 46,342,959 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,255,804 - 46,299,548 (+)NCBINCBI36Build 36hg18NCBI36
Build 341146,256,135 - 46,299,546NCBI
Celera1146,447,593 - 46,490,563 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,006,120 - 46,049,912 (+)NCBIHuRef
CHM1_11146,297,481 - 46,341,263 (+)NCBICHM1_1
T2T-CHM13v2.01146,433,747 - 46,477,484 (+)NCBIT2T-CHM13v2.0
Creb3l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,812,673 - 91,854,515 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,812,673 - 91,854,847 (-)EnsemblGRCm39 Ensembl
GRCm38291,982,328 - 92,024,170 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,982,328 - 92,024,502 (-)EnsemblGRCm38mm10GRCm38
MGSCv37291,822,485 - 91,864,327 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,783,492 - 91,824,970 (-)NCBIMGSCv36mm8
Celera293,372,860 - 93,415,712 (-)NCBICelera
Cytogenetic Map2E1NCBI
Creb3l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2377,952,589 - 77,993,513 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,952,540 - 77,993,456 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0380,892,433 - 80,933,283 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl380,892,435 - 80,933,283 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,591,097 - 87,632,703 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,361,149 - 76,401,633 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,257,522 - 76,298,005 (-)NCBI
Celera377,155,216 - 77,195,815 (-)NCBICelera
Cytogenetic Map3q24NCBI
Creb3l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,700,692 - 1,734,773 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,702,131 - 1,734,603 (-)NCBIChiLan1.0ChiLan1.0
CREB3L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11146,788,561 - 46,830,246 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,788,561 - 46,830,246 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01146,236,384 - 46,280,145 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CREB3L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11843,138,779 - 43,173,535 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1843,139,453 - 43,173,420 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,866,950 - 41,901,711 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,794,549 - 43,829,336 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1843,795,088 - 43,829,206 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,279,443 - 43,314,202 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,831,301 - 42,866,047 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,564,538 - 43,599,317 (-)NCBIUU_Cfam_GSD_1.0
Creb3l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,628,266 - 20,660,842 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365622,739,908 - 2,772,484 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CREB3L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,186,206 - 16,220,940 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,186,206 - 16,220,948 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,530,731 - 17,564,910 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CREB3L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1119,009,169 - 19,054,841 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl119,009,035 - 19,054,804 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,294,549 - 116,338,755 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Creb3l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,215,558 - 2,247,509 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,215,850 - 2,247,470 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
G29176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,342,743 - 46,342,893UniSTSGRCh37
Build 361146,299,319 - 46,299,469RGDNCBI36
Celera1146,490,334 - 46,490,484RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,049,683 - 46,049,833UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2987
Count of miRNA genes:809
Interacting mature miRNAs:989
Transcripts:ENST00000288400, ENST00000527342, ENST00000529193, ENST00000530244, ENST00000530518, ENST00000534616, ENST00000534787
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
Medium 1106 889 581 173 214 24 1111 425 578 105 817 720 153 439 606 1
Low 1304 1391 919 229 801 221 3142 1728 3065 251 588 833 13 765 2145 3
Below cutoff 15 663 213 213 780 213 86 39 65 52 43 47 5 1 37

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB063321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ953032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF131922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA693632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000527342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,310,914 - 46,312,623 (+)Ensembl
RefSeq Acc Id: ENST00000530518   ⟹   ENSP00000436574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,311,157 - 46,315,387 (+)Ensembl
RefSeq Acc Id: ENST00000534616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,315,479 - 46,320,299 (+)Ensembl
RefSeq Acc Id: ENST00000534787   ⟹   ENSP00000431677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,295,126 - 46,307,939 (+)Ensembl
RefSeq Acc Id: ENST00000616094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,315,661 - 46,321,409 (+)Ensembl
RefSeq Acc Id: ENST00000621158   ⟹   ENSP00000481956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1146,277,662 - 46,321,409 (+)Ensembl
RefSeq Acc Id: NM_052854   ⟹   NP_443086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,277,662 - 46,321,409 (+)NCBI
GRCh371146,299,189 - 46,342,972 (+)NCBI
Build 361146,255,804 - 46,299,548 (+)NCBI Archive
Celera1146,447,593 - 46,490,563 (+)RGD
HuRef1146,006,120 - 46,049,912 (+)NCBI
CHM1_11146,297,481 - 46,341,263 (+)NCBI
T2T-CHM13v2.01146,433,747 - 46,477,484 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718380   ⟹   XP_006718443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,277,662 - 46,315,387 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443086   ⟸   NM_052854
- UniProtKB: Q96CP0 (UniProtKB/Swiss-Prot),   Q96BA8 (UniProtKB/Swiss-Prot),   B2RA75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718443   ⟸   XM_006718380
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000481956   ⟸   ENST00000621158
RefSeq Acc Id: ENSP00000436574   ⟸   ENST00000530518
RefSeq Acc Id: ENSP00000431677   ⟸   ENST00000534787
Protein Domains
bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96BA8-F1-model_v2 AlphaFold Q96BA8 1-519 view protein structure

Promoters
RGD ID:6788646
Promoter ID:HG_KWN:12754
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000288400,   NM_052854,   UC001NCF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,255,609 - 46,256,109 (+)MPROMDB
RGD ID:6809971
Promoter ID:HG_ACW:11884
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:CREB3L1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361146,273,051 - 46,273,737 (+)MPROMDB
RGD ID:7220167
Promoter ID:EPDNEW_H15829
Type:initiation region
Name:CREB3L1_1
Description:cAMP responsive element binding protein 3 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15830  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,277,662 - 46,277,722EPDNEW
RGD ID:7220169
Promoter ID:EPDNEW_H15830
Type:initiation region
Name:CREB3L1_2
Description:cAMP responsive element binding protein 3 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15829  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,278,046 - 46,278,106EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_052854.4(CREB3L1):c.435G>A (p.Ser145=) single nucleotide variant not provided [RCV001571482] Chr11:46307919 [GRCh38]
Chr11:46329470 [GRCh37]
Chr11:11p11.2
benign|likely benign
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2
pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
NM_052854.3(CREB3L1):c.908C>T (p.Ser303Leu) single nucleotide variant Malignant melanoma [RCV000069366] Chr11:46312616 [GRCh38]
Chr11:46334167 [GRCh37]
Chr11:46290743 [NCBI36]
Chr11:11p11.2
not provided
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2
pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12
pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12
likely pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
NM_052854.3(CREB3L1):c.1525dupG (p.Asp509Glyfs) duplication Osteogenesis imperfecta type 16 [RCV001662387]|not provided [RCV001672752]|not specified [RCV000455306] Chr11:46320708..46320709 [GRCh38]
Chr11:46342259..46342260 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.46G>T (p.Gly16Ter) single nucleotide variant not provided [RCV000498875] Chr11:46278157 [GRCh38]
Chr11:46299708 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1109C>T (p.Thr370Ile) single nucleotide variant not provided [RCV000497336] Chr11:46316363 [GRCh38]
Chr11:46337914 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg) single nucleotide variant Osteogenesis imperfecta type 16 [RCV000763743]|not provided [RCV000498256] Chr11:46307972 [GRCh38]
Chr11:46329523 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del) microsatellite Osteogenesis imperfecta [RCV000754794]|Osteogenesis imperfecta type 16 [RCV000677179] Chr11:46312636..46312638 [GRCh38]
Chr11:46334187..46334189 [GRCh37]
Chr11:11p11.2
pathogenic
NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter) single nucleotide variant Osteogenesis imperfecta type 16 [RCV000677180] Chr11:46320289 [GRCh38]
Chr11:46341840 [GRCh37]
Chr11:11p11.2
pathogenic
Single allele duplication Global developmental delay [RCV000677110] Chr11:46315434..46629277 [GRCh37]
Chr11:11p11.2
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p11.2(chr11:45229091-46342834)x3 copy number gain not provided [RCV000750026] Chr11:45229091..46342834 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.274G>A (p.Gly92Ser) single nucleotide variant not provided [RCV001584899] Chr11:46300106 [GRCh38]
Chr11:46321657 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.753C>T (p.His251=) single nucleotide variant not provided [RCV000891649] Chr11:46311189 [GRCh38]
Chr11:46332740 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.294C>T (p.Ser98=) single nucleotide variant not provided [RCV000897325] Chr11:46300126 [GRCh38]
Chr11:46321677 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1258+248G>A single nucleotide variant not provided [RCV001583974] Chr11:46317735 [GRCh38]
Chr11:46339286 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1131+116G>T single nucleotide variant not provided [RCV001645656] Chr11:46316501 [GRCh38]
Chr11:46338052 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val) single nucleotide variant Osteogenesis imperfecta type 16 [RCV001334433]|not provided [RCV000881913] Chr11:46311035 [GRCh38]
Chr11:46332586 [GRCh37]
Chr11:11p11.2
likely benign|uncertain significance
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser) single nucleotide variant not provided [RCV000949773]|not specified [RCV001796323] Chr11:46320733 [GRCh38]
Chr11:46342283 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.957A>G (p.Glu319=) single nucleotide variant not provided [RCV000969066] Chr11:46312665 [GRCh38]
Chr11:46334216 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1117G>A (p.Gly373Arg) single nucleotide variant not provided [RCV000904892] Chr11:46316371 [GRCh38]
Chr11:46337922 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_052854.4(CREB3L1):c.1333A>G (p.Met445Val) single nucleotide variant not provided [RCV000898142] Chr11:46320338 [GRCh38]
Chr11:46341889 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_052854.4(CREB3L1):c.1523+6del deletion Osteogenesis imperfecta type 16 [RCV001664561]|not provided [RCV000947343] Chr11:46320531 [GRCh38]
Chr11:46342082 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1325T>G (p.Leu442Arg) single nucleotide variant not provided [RCV000920892] Chr11:46320330 [GRCh38]
Chr11:46341881 [GRCh37]
Chr11:11p11.2
benign
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1131+180T>C single nucleotide variant not provided [RCV001576953] Chr11:46316565 [GRCh38]
Chr11:46338116 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.595+180T>G single nucleotide variant not provided [RCV001569583] Chr11:46310247 [GRCh38]
Chr11:46331798 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.516+197G>A single nucleotide variant not provided [RCV001610249] Chr11:46308197 [GRCh38]
Chr11:46329748 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1259-285T>C single nucleotide variant not provided [RCV001596597] Chr11:46319979 [GRCh38]
Chr11:46341530 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1031+226C>T single nucleotide variant not provided [RCV001569442] Chr11:46313145 [GRCh38]
Chr11:46334696 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1231G>A (p.Ala411Thr) single nucleotide variant not provided [RCV001611101] Chr11:46317460 [GRCh38]
Chr11:46339011 [GRCh37]
Chr11:11p11.2
benign
Single allele single nucleotide variant not provided [RCV001556813] Chr11:46277541 [GRCh38]
Chr11:46299092 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.517-178G>T single nucleotide variant not provided [RCV001621486] Chr11:46309811 [GRCh38]
Chr11:46331362 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1197C>T (p.Ser399=) single nucleotide variant not provided [RCV001595705] Chr11:46317426 [GRCh38]
Chr11:46338977 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.516+234C>T single nucleotide variant not provided [RCV001574437] Chr11:46308234 [GRCh38]
Chr11:46329785 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.103-251C>G single nucleotide variant not provided [RCV001620989] Chr11:46299684 [GRCh38]
Chr11:46321235 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1185C>T (p.Pro395=) single nucleotide variant not provided [RCV000907286] Chr11:46317414 [GRCh38]
Chr11:46338965 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.516+9G>A single nucleotide variant not provided [RCV000897290] Chr11:46308009 [GRCh38]
Chr11:46329560 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.651C>T (p.Asp217=) single nucleotide variant not provided [RCV000888355] Chr11:46311087 [GRCh38]
Chr11:46332638 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1290C>T (p.Asp430=) single nucleotide variant not provided [RCV000929148] Chr11:46320295 [GRCh38]
Chr11:46341846 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.717G>A (p.Thr239=) single nucleotide variant not provided [RCV000888521] Chr11:46311153 [GRCh38]
Chr11:46332704 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.357G>A (p.Leu119=) single nucleotide variant not provided [RCV000940536] Chr11:46307841 [GRCh38]
Chr11:46329392 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1194C>T (p.Ser398=) single nucleotide variant not provided [RCV000889833] Chr11:46317423 [GRCh38]
Chr11:46338974 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_052854.4(CREB3L1):c.1258+56C>T single nucleotide variant not provided [RCV001565281] Chr11:46317543 [GRCh38]
Chr11:46339094 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.-354C>G single nucleotide variant not provided [RCV001661057] Chr11:46277758 [GRCh38]
Chr11:46299309 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.753+250T>G single nucleotide variant not provided [RCV001552519] Chr11:46311439 [GRCh38]
Chr11:46332990 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.*22T>C single nucleotide variant not provided [RCV001559486] Chr11:46320768 [GRCh38]
Chr11:46342318 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.*80C>T single nucleotide variant not provided [RCV001566559] Chr11:46320826 [GRCh38]
Chr11:46342376 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1105G>A (p.Ala369Thr) single nucleotide variant not provided [RCV001574134] Chr11:46316359 [GRCh38]
Chr11:46337910 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.962+18G>A single nucleotide variant not provided [RCV001608556] Chr11:46312688 [GRCh38]
Chr11:46334239 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.595+263C>T single nucleotide variant not provided [RCV001615852] Chr11:46310330 [GRCh38]
Chr11:46331881 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1258+146C>T single nucleotide variant not provided [RCV001540448] Chr11:46317633 [GRCh38]
Chr11:46339184 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.595+189TTTG[7] microsatellite not provided [RCV001641492] Chr11:46310255..46310256 [GRCh38]
Chr11:46331806..46331807 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.754-219G>A single nucleotide variant not provided [RCV001595714] Chr11:46312106 [GRCh38]
Chr11:46333657 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1524-51G>A single nucleotide variant not provided [RCV001620400] Chr11:46320659 [GRCh38]
Chr11:46342210 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr) single nucleotide variant not provided [RCV001573120]|not specified [RCV001579648] Chr11:46307938 [GRCh38]
Chr11:46329489 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_052854.4(CREB3L1):c.516+284A>G single nucleotide variant not provided [RCV001654019] Chr11:46308284 [GRCh38]
Chr11:46329835 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1032-233T>C single nucleotide variant not provided [RCV001691685] Chr11:46316053 [GRCh38]
Chr11:46337604 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.716C>T (p.Thr239Met) single nucleotide variant not provided [RCV001665657] Chr11:46311152 [GRCh38]
Chr11:46332703 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1131+100G>A single nucleotide variant not provided [RCV001587836] Chr11:46316485 [GRCh38]
Chr11:46338036 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.516+287A>G single nucleotide variant not provided [RCV001589441] Chr11:46308287 [GRCh38]
Chr11:46329838 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.774del (p.Pro259fs) deletion Osteogenesis imperfecta type 16 [RCV001196385] Chr11:46312343 [GRCh38]
Chr11:46333894 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1 copy number loss not provided [RCV001259091] Chr11:45995260..46536343 [GRCh37]
Chr11:11p11.2
likely pathogenic
GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3 copy number gain not provided [RCV001259093] Chr11:46123974..46442526 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val) single nucleotide variant Osteogenesis imperfecta type 16 [RCV001262123] Chr11:46312619 [GRCh38]
Chr11:46334170 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.753+153T>G single nucleotide variant not provided [RCV001643240] Chr11:46311342 [GRCh38]
Chr11:46332893 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1258+77G>A single nucleotide variant not provided [RCV001536446] Chr11:46317564 [GRCh38]
Chr11:46339115 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.596-225C>G single nucleotide variant not provided [RCV001648542] Chr11:46310807 [GRCh38]
Chr11:46332358 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.331+113A>C single nucleotide variant not provided [RCV001617337] Chr11:46300276 [GRCh38]
Chr11:46321827 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.596-79T>C single nucleotide variant not provided [RCV001687751] Chr11:46310953 [GRCh38]
Chr11:46332504 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.753+1G>A single nucleotide variant Osteogenesis imperfecta type 16 [RCV001780875]|not provided [RCV001868858] Chr11:46311190 [GRCh38]
Chr11:46332741 [GRCh37]
Chr11:11p11.2
likely pathogenic
NM_052854.4(CREB3L1):c.401C>G (p.Pro134Arg) single nucleotide variant not provided [RCV001950512] Chr11:46307885 [GRCh38]
Chr11:46329436 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.277G>A (p.Asp93Asn) single nucleotide variant not provided [RCV001863889] Chr11:46300109 [GRCh38]
Chr11:46321660 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.276C>T (p.Gly92=) single nucleotide variant not provided [RCV001911067] Chr11:46300108 [GRCh38]
Chr11:46321659 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1489G>A (p.Asp497Asn) single nucleotide variant not provided [RCV001985037] Chr11:46320494 [GRCh38]
Chr11:46342045 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.652G>C (p.Gly218Arg) single nucleotide variant not provided [RCV002021647] Chr11:46311088 [GRCh38]
Chr11:46332639 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1429G>A (p.Glu477Lys) single nucleotide variant not provided [RCV001910970] Chr11:46320434 [GRCh38]
Chr11:46341985 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1549A>G (p.Lys517Glu) single nucleotide variant not provided [RCV002005866] Chr11:46320735 [GRCh38]
Chr11:46342285 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1496C>A (p.Ser499Tyr) single nucleotide variant not provided [RCV001927400] Chr11:46320501 [GRCh38]
Chr11:46342052 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.753+72dup duplication not provided [RCV001840871] Chr11:46311260..46311261 [GRCh38]
Chr11:46332811..46332812 [GRCh37]
Chr11:11p11.2
likely benign
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2
pathogenic
GRCh37/hg19 11p11.2(chr11:46248477-46748132) copy number loss not specified [RCV002052926] Chr11:46248477..46748132 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.820G>A (p.Gly274Ser) single nucleotide variant not provided [RCV001893868] Chr11:46312391 [GRCh38]
Chr11:46333942 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.858C>A (p.Ala286=) single nucleotide variant not provided [RCV001912526] Chr11:46312429 [GRCh38]
Chr11:46333980 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1512G>T (p.Trp504Cys) single nucleotide variant not provided [RCV001967949] Chr11:46320517 [GRCh38]
Chr11:46342068 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.904-5_904-4delinsAT indel not provided [RCV002021498] Chr11:46312607..46312608 [GRCh38]
Chr11:46334158..46334159 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.211T>A (p.Leu71Met) single nucleotide variant not provided [RCV002038446] Chr11:46300043 [GRCh38]
Chr11:46321594 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1391G>A (p.Arg464Gln) single nucleotide variant not provided [RCV001917716] Chr11:46320396 [GRCh38]
Chr11:46341947 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.706C>T (p.Arg236Cys) single nucleotide variant not provided [RCV001887539] Chr11:46311142 [GRCh38]
Chr11:46332693 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1315C>T (p.Arg439Cys) single nucleotide variant not provided [RCV002034361] Chr11:46320320 [GRCh38]
Chr11:46341871 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.922C>T (p.Arg308Cys) single nucleotide variant not provided [RCV002001271] Chr11:46312630 [GRCh38]
Chr11:46334181 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.506T>C (p.Ile169Thr) single nucleotide variant not provided [RCV001888626] Chr11:46307990 [GRCh38]
Chr11:46329541 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.532A>G (p.Thr178Ala) single nucleotide variant not provided [RCV001944883] Chr11:46310004 [GRCh38]
Chr11:46331555 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val) single nucleotide variant not provided [RCV001954822] Chr11:46300116 [GRCh38]
Chr11:46321667 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1231G>T (p.Ala411Ser) single nucleotide variant not provided [RCV001996603] Chr11:46317460 [GRCh38]
Chr11:46339011 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.402G>A (p.Pro134=) single nucleotide variant not provided [RCV001941490] Chr11:46307886 [GRCh38]
Chr11:46329437 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.512A>C (p.His171Pro) single nucleotide variant not provided [RCV002049228] Chr11:46307996 [GRCh38]
Chr11:46329547 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1462A>G (p.Lys488Glu) single nucleotide variant not provided [RCV001919200] Chr11:46320467 [GRCh38]
Chr11:46342018 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1546A>G (p.Ile516Val) single nucleotide variant not provided [RCV001899461] Chr11:46320732 [GRCh38]
Chr11:46342282 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1523+5_1523+6insTGTGTGGCCCCTTTG microsatellite not provided [RCV001864901] Chr11:46320532..46320533 [GRCh38]
Chr11:46342083..46342084 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1449T>A (p.Ser483Arg) single nucleotide variant not provided [RCV001918708] Chr11:46320454 [GRCh38]
Chr11:46342005 [GRCh37]
Chr11:11p11.2
uncertain significance
NC_000011.9:g.(?_45827353)_(46401497_?)del deletion Peroxisome biogenesis disorder [RCV001953896] Chr11:45827353..46401497 [GRCh37]
Chr11:11p11.2
pathogenic
NC_000011.9:g.(?_46318032)_(46761066_?)dup duplication not provided [RCV001997118] Chr11:46318032..46761066 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1178G>A (p.Cys393Tyr) single nucleotide variant not provided [RCV001935475] Chr11:46317407 [GRCh38]
Chr11:46338958 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.236C>T (p.Thr79Met) single nucleotide variant not provided [RCV001923511] Chr11:46300068 [GRCh38]
Chr11:46321619 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV001937720] Chr11:46309993 [GRCh38]
Chr11:46331544 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.494C>T (p.Ser165Phe) single nucleotide variant not provided [RCV001916168] Chr11:46307978 [GRCh38]
Chr11:46329529 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.565G>A (p.Glu189Lys) single nucleotide variant not provided [RCV001897689] Chr11:46310037 [GRCh38]
Chr11:46331588 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.636T>A (p.His212Gln) single nucleotide variant not provided [RCV002015152] Chr11:46311072 [GRCh38]
Chr11:46332623 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.707G>A (p.Arg236His) single nucleotide variant not provided [RCV002016063] Chr11:46311143 [GRCh38]
Chr11:46332694 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.472C>G (p.Leu158Val) single nucleotide variant not provided [RCV001978980] Chr11:46307956 [GRCh38]
Chr11:46329507 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.701T>C (p.Met234Thr) single nucleotide variant not provided [RCV001904195] Chr11:46311137 [GRCh38]
Chr11:46332688 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.736C>G (p.Leu246Val) single nucleotide variant not provided [RCV001920422] Chr11:46311172 [GRCh38]
Chr11:46332723 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1390C>T (p.Arg464Trp) single nucleotide variant not provided [RCV002027568] Chr11:46320395 [GRCh38]
Chr11:46341946 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1097A>T (p.Lys366Met) single nucleotide variant not provided [RCV002026673] Chr11:46316351 [GRCh38]
Chr11:46337902 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV001903267] Chr11:46307932 [GRCh38]
Chr11:46329483 [GRCh37]
Chr11:11p11.2
uncertain significance
NM_052854.4(CREB3L1):c.1541C>A (p.Thr514Asn) single nucleotide variant not provided [RCV002146582] Chr11:46320727 [GRCh38]
Chr11:46342277 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.918G>A (p.Glu306=) single nucleotide variant not provided [RCV002109525] Chr11:46312626 [GRCh38]
Chr11:46334177 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1230C>T (p.Ala410=) single nucleotide variant not provided [RCV002125585] Chr11:46317459 [GRCh38]
Chr11:46339010 [GRCh37]
Chr11:11p11.2
benign|likely benign
NM_052854.4(CREB3L1):c.1524-4C>T single nucleotide variant not provided [RCV002089748] Chr11:46320706 [GRCh38]
Chr11:46342257 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.753+11G>A single nucleotide variant not provided [RCV002125242] Chr11:46311200 [GRCh38]
Chr11:46332751 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.600C>T (p.Asp200=) single nucleotide variant not provided [RCV002105684] Chr11:46311036 [GRCh38]
Chr11:46332587 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.273C>T (p.Ser91=) single nucleotide variant not provided [RCV002165384] Chr11:46300105 [GRCh38]
Chr11:46321656 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.962+20T>A single nucleotide variant not provided [RCV002134922] Chr11:46312690 [GRCh38]
Chr11:46334241 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.63C>T (p.Asp21=) single nucleotide variant not provided [RCV002193290] Chr11:46278174 [GRCh38]
Chr11:46299725 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.904-17C>T single nucleotide variant not provided [RCV002196205] Chr11:46312595 [GRCh38]
Chr11:46334146 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.411C>T (p.Pro137=) single nucleotide variant not provided [RCV002169003] Chr11:46307895 [GRCh38]
Chr11:46329446 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1365C>T (p.Pro455=) single nucleotide variant not provided [RCV002211779] Chr11:46320370 [GRCh38]
Chr11:46341921 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1132-20C>T single nucleotide variant not provided [RCV002208170] Chr11:46317341 [GRCh38]
Chr11:46338892 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.331+17C>A single nucleotide variant not provided [RCV002153213] Chr11:46300180 [GRCh38]
Chr11:46321731 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.595+13A>G single nucleotide variant not provided [RCV002080787] Chr11:46310080 [GRCh38]
Chr11:46331631 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.36G>A (p.Arg12=) single nucleotide variant not provided [RCV002134120] Chr11:46278147 [GRCh38]
Chr11:46299698 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.252G>A (p.Ala84=) single nucleotide variant not provided [RCV002194494] Chr11:46300084 [GRCh38]
Chr11:46321635 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.429C>T (p.Ala143=) single nucleotide variant not provided [RCV002148889] Chr11:46307913 [GRCh38]
Chr11:46329464 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.883C>A (p.Arg295=) single nucleotide variant not provided [RCV002114480] Chr11:46312454 [GRCh38]
Chr11:46334005 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.450G>A (p.Ala150=) single nucleotide variant not provided [RCV002172415] Chr11:46307934 [GRCh38]
Chr11:46329485 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.103-3454C>G single nucleotide variant not provided [RCV002124724] Chr11:46296481 [GRCh38]
Chr11:46318032 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.78C>T (p.Asn26=) single nucleotide variant not provided [RCV002134792] Chr11:46278189 [GRCh38]
Chr11:46299740 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.903+13A>T single nucleotide variant not provided [RCV002139758] Chr11:46312487 [GRCh38]
Chr11:46334038 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.618G>A (p.Pro206=) single nucleotide variant not provided [RCV002118303] Chr11:46311054 [GRCh38]
Chr11:46332605 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1259-13A>G single nucleotide variant not provided [RCV002137939] Chr11:46320251 [GRCh38]
Chr11:46341802 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.102+8G>A single nucleotide variant not provided [RCV002177917] Chr11:46278221 [GRCh38]
Chr11:46299772 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1449T>C (p.Ser483=) single nucleotide variant not provided [RCV002138790] Chr11:46320454 [GRCh38]
Chr11:46342005 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.903+16C>A single nucleotide variant not provided [RCV002135563] Chr11:46312490 [GRCh38]
Chr11:46334041 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.463A>C (p.Thr155Pro) single nucleotide variant not provided [RCV002220830] Chr11:46307947 [GRCh38]
Chr11:46329498 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.762G>A (p.Gln254=) single nucleotide variant not provided [RCV002160346] Chr11:46312333 [GRCh38]
Chr11:46333884 [GRCh37]
Chr11:11p11.2
benign
NM_052854.4(CREB3L1):c.1428C>T (p.His476=) single nucleotide variant not provided [RCV002201257] Chr11:46320433 [GRCh38]
Chr11:46341984 [GRCh37]
Chr11:11p11.2
likely benign
NM_052854.4(CREB3L1):c.1186G>T (p.Glu396Ter) single nucleotide variant Osteogenesis imperfecta type 16 [RCV002250968] Chr11:46317415 [GRCh38]
Chr11:46338966 [GRCh37]
Chr11:11p11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18856 AgrOrtholog
COSMIC CREB3L1 COSMIC
Ensembl Genes ENSG00000157613 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000431677.1 UniProtKB/TrEMBL
  ENSP00000436574.1 UniProtKB/TrEMBL
  ENSP00000481956 ENTREZGENE
  ENSP00000481956.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000530518.1 UniProtKB/TrEMBL
  ENST00000534787.1 UniProtKB/TrEMBL
  ENST00000621158 ENTREZGENE
  ENST00000621158.5 UniProtKB/Swiss-Prot
GTEx ENSG00000157613 GTEx
HGNC ID HGNC:18856 ENTREZGENE
Human Proteome Map CREB3L1 Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OASIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:90993 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 90993 ENTREZGENE
OMIM 616215 OMIM
  616229 OMIM
PANTHER PTHR46004:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam bZIP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134960108 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BZIP_BASIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRLZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57959 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RA75 ENTREZGENE, UniProtKB/TrEMBL
  CR3L1_HUMAN UniProtKB/Swiss-Prot
  E9PK33_HUMAN UniProtKB/TrEMBL
  H0YEU7_HUMAN UniProtKB/TrEMBL
  Q96BA8 ENTREZGENE
  Q96CP0 ENTREZGENE
UniProt Secondary Q8N2D5 UniProtKB/Swiss-Prot
  Q96CP0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 CREB3L1  cAMP responsive element binding protein 3 like 1    cAMP responsive element binding protein 3-like 1  Symbol and/or name change 5135510 APPROVED