CER1 (cerberus 1, DAN family BMP antagonist) - Rat Genome Database

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Gene: CER1 (cerberus 1, DAN family BMP antagonist) Homo sapiens
Analyze
Symbol: CER1
Name: cerberus 1, DAN family BMP antagonist
RGD ID: 1347243
HGNC Page HGNC:1862
Description: Enables BMP binding activity and morphogen activity. Involved in several processes, including determination of dorsal identity; negative regulation of mesoderm development; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cerberus; cerberus 1 homolog, cysteine knot superfamily (xenopus laevis); cerberus 1, cysteine knot superfamily, homolog; cerberus-related 1; cerberus-related protein; DAN domain family member 4; DAND4; MGC119894; MGC119895; MGC96951
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38914,717,326 - 14,722,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl914,719,724 - 14,722,733 (-)EnsemblGRCh38hg38GRCh38
GRCh37914,719,722 - 14,722,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,709,731 - 14,712,715 (-)NCBINCBI36Build 36hg18NCBI36
Build 34914,710,087 - 14,712,670NCBI
Celera914,653,168 - 14,656,152 (-)NCBICelera
Cytogenetic Map9p22.3NCBI
HuRef914,683,023 - 14,686,007 (-)NCBIHuRef
CHM1_1914,719,774 - 14,722,758 (-)NCBICHM1_1
T2T-CHM13v2.0914,724,810 - 14,732,441 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,ISS,TAS)
extracellular space  (IBA,IEA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Genome-wide haplotype association mapping in mice identifies a genetic variant in CER1 associated with BMD and fracture in southern Chinese women. Tang PL, etal., J Bone Miner Res. 2009 Jun;24(6):1013-21. doi: 10.1359/jbmr.081258.
Additional References at PubMed
PMID:9501024   PMID:9660951   PMID:10049596   PMID:12477932   PMID:15164053   PMID:15340161   PMID:15489334   PMID:15621726   PMID:16798745   PMID:17029022   PMID:17207965   PMID:18452192  
PMID:19390575   PMID:19453261   PMID:19789190   PMID:21873635   PMID:22543871   PMID:23717584   PMID:24138842   PMID:24453475   PMID:26186194   PMID:26802359   PMID:28514442   PMID:33961781  
PMID:34859850  


Genomics

Comparative Map Data
CER1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38914,717,326 - 14,722,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl914,719,724 - 14,722,733 (-)EnsemblGRCh38hg38GRCh38
GRCh37914,719,722 - 14,722,731 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36914,709,731 - 14,712,715 (-)NCBINCBI36Build 36hg18NCBI36
Build 34914,710,087 - 14,712,670NCBI
Celera914,653,168 - 14,656,152 (-)NCBICelera
Cytogenetic Map9p22.3NCBI
HuRef914,683,023 - 14,686,007 (-)NCBIHuRef
CHM1_1914,719,774 - 14,722,758 (-)NCBICHM1_1
T2T-CHM13v2.0914,724,810 - 14,732,441 (-)NCBIT2T-CHM13v2.0
Cer1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39482,799,988 - 82,803,388 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl482,799,988 - 82,803,385 (-)EnsemblGRCm39 Ensembl
GRCm38482,881,751 - 82,885,151 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl482,881,751 - 82,885,148 (-)EnsemblGRCm38mm10GRCm38
MGSCv37482,527,655 - 82,531,055 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36482,352,982 - 82,356,382 (-)NCBIMGSCv36mm8
Celera481,416,868 - 81,420,261 (-)NCBICelera
Cytogenetic Map4C3NCBI
cM Map439.4NCBI
Cer1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85102,352,364 - 102,355,720 (-)NCBIGRCr8
mRatBN7.2597,306,427 - 97,309,783 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl597,306,431 - 97,309,783 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx599,684,785 - 99,688,121 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05101,483,102 - 101,486,442 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05101,495,639 - 101,498,975 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05101,003,019 - 101,006,375 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5101,003,023 - 101,006,375 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05105,024,882 - 105,028,238 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45101,756,095 - 101,759,451 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera595,858,921 - 95,862,277 (-)NCBICelera
Cytogenetic Map5q31NCBI
Cer1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543417,734,495 - 17,740,823 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543417,738,281 - 17,740,823 (-)NCBIChiLan1.0ChiLan1.0
CER1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211109,814,263 - 109,821,566 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19109,820,226 - 109,827,513 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0914,552,062 - 14,559,632 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1915,063,766 - 15,066,776 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl915,063,766 - 15,066,776 (-)Ensemblpanpan1.1panPan2
CER1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11135,155,568 - 35,159,085 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1135,156,430 - 35,158,942 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1133,798,715 - 33,801,938 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01136,059,810 - 36,063,033 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1136,060,121 - 36,063,033 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11134,763,936 - 34,767,159 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01134,556,198 - 34,559,421 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01135,213,081 - 35,216,304 (-)NCBIUU_Cfam_GSD_1.0
Cer1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947149,868,745 - 149,871,378 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365398,321,432 - 8,323,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CER1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1207,818,175 - 207,822,291 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11207,817,095 - 207,821,800 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CER1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11264,859,301 - 64,865,676 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1264,860,958 - 64,863,544 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603853,077,361 - 53,083,528 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cer1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473618,958,069 - 18,960,617 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473618,958,081 - 18,960,617 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CER1
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
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 9p23-22.2(chr9:9661633-18034356)x1 copy number loss See cases [RCV000050580] Chr9:9661633..18034356 [GRCh38]
Chr9:9661633..18034354 [GRCh37]
Chr9:9651633..18024354 [NCBI36]
Chr9:9p23-22.2		 pathogenic
GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1 copy number loss See cases [RCV000051021] Chr9:11086096..17636671 [GRCh38]
Chr9:11086096..17636669 [GRCh37]
Chr9:11076096..17626669 [NCBI36]
Chr9:9p23-22.2		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1 copy number loss See cases [RCV000052899] Chr9:11818291..17963882 [GRCh38]
Chr9:11818291..17963880 [GRCh37]
Chr9:11808291..17953880 [NCBI36]
Chr9:9p23-22.2		 pathogenic
GRCh38/hg38 9p22.3(chr9:14210805-15317500)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052900]|See cases [RCV000052900] Chr9:14210805..15317500 [GRCh38]
Chr9:14210804..15317498 [GRCh37]
Chr9:14200804..15307498 [NCBI36]
Chr9:9p22.3		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 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 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 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 9p23-21.1(chr9:9543538-30266463)x3 copy number gain See cases [RCV000053749] Chr9:9543538..30266463 [GRCh38]
Chr9:9543538..30266461 [GRCh37]
Chr9:9533538..30256461 [NCBI36]
Chr9:9p23-21.1		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 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 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 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
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
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 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1 copy number loss See cases [RCV000138542] Chr9:14182609..14903052 [GRCh38]
Chr9:14182608..14903050 [GRCh37]
Chr9:14172608..14893050 [NCBI36]
Chr9:9p23-22.3		 uncertain significance
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 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
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
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 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 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
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 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
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
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
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
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 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 copy number loss Oxycephaly [RCV000681563] Chr9:13739630..18023839 [GRCh37]
Chr9:9p23-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
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 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_005454.3(CER1):c.557G>A (p.Cys186Tyr) single nucleotide variant not specified [RCV004317547] Chr9:14720337 [GRCh38]
Chr9:14720335 [GRCh37]
Chr9:9p22.3		 uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
NM_005454.3(CER1):c.343C>T (p.Pro115Ser) single nucleotide variant not specified [RCV004311450] Chr9:14722330 [GRCh38]
Chr9:14722328 [GRCh37]
Chr9:9p22.3		 uncertain significance
GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626433] Chr9:10320113..26205565 [GRCh37]
Chr9:9p23-21.2		 drug response
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 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
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1 copy number loss Intellectual disability [RCV000681561] Chr9:14178768..16619009 [GRCh37]
Chr9:9p23-22.2		 pathogenic
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1 copy number loss Turricephaly [RCV000681562] Chr9:13563537..18491752 [GRCh37]
Chr9:9p23-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p22.3(chr9:14686308-14790363)x3 copy number gain not provided [RCV000748245] Chr9:14686308..14790363 [GRCh37]
Chr9:9p22.3		 benign
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 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
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
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
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 9p22.3(chr9:14420900-15379492)x1 copy number loss not provided [RCV001006212] Chr9:14420900..15379492 [GRCh37]
Chr9:9p22.3		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.3(chr9:14670160-14871548)x1 copy number loss not provided [RCV001006213] Chr9:14670160..14871548 [GRCh37]
Chr9:9p22.3		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263226] Chr9:13638428..17121764 [GRCh37]
Chr9:9p23-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960) copy number loss not specified [RCV002053841] Chr9:6788084..19213960 [GRCh37]
Chr9:9p24.1-22.1		 uncertain significance
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
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
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_005454.3(CER1):c.732G>C (p.Lys244Asn) single nucleotide variant not specified [RCV004202571] Chr9:14720162 [GRCh38]
Chr9:14720160 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.186C>A (p.His62Gln) single nucleotide variant not specified [RCV004210692] Chr9:14722487 [GRCh38]
Chr9:14722485 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.175G>A (p.Ala59Thr) single nucleotide variant not specified [RCV004171486] Chr9:14722498 [GRCh38]
Chr9:14722496 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.131C>T (p.Thr44Ile) single nucleotide variant not specified [RCV004114204] Chr9:14722542 [GRCh38]
Chr9:14722540 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.71G>A (p.Arg24His) single nucleotide variant not specified [RCV004204552] Chr9:14722602 [GRCh38]
Chr9:14722600 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.134G>A (p.Gly45Asp) single nucleotide variant not specified [RCV004108736] Chr9:14722539 [GRCh38]
Chr9:14722537 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.596C>T (p.Ala199Val) single nucleotide variant not specified [RCV004261035] Chr9:14720298 [GRCh38]
Chr9:14720296 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.113A>G (p.Asn38Ser) single nucleotide variant not specified [RCV004263676] Chr9:14722560 [GRCh38]
Chr9:14722558 [GRCh37]
Chr9:9p22.3		 likely benign
GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1 copy number loss not provided [RCV003483054] Chr9:8595338..15622555 [GRCh37]
Chr9:9p24.1-22.3		 pathogenic
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_005454.3(CER1):c.174C>T (p.Val58=) single nucleotide variant not provided [RCV003435719] Chr9:14722499 [GRCh38]
Chr9:14722497 [GRCh37]
Chr9:9p22.3		 likely benign
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_005454.3(CER1):c.107C>G (p.Pro36Arg) single nucleotide variant not specified [RCV004428481] Chr9:14722566 [GRCh38]
Chr9:14722564 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.292A>G (p.Arg98Gly) single nucleotide variant not specified [RCV004428483] Chr9:14722381 [GRCh38]
Chr9:14722379 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.380G>A (p.Arg127Gln) single nucleotide variant not specified [RCV004428484] Chr9:14722293 [GRCh38]
Chr9:14722291 [GRCh37]
Chr9:9p22.3		 likely benign
NM_005454.3(CER1):c.97G>A (p.Val33Ile) single nucleotide variant not specified [RCV004428485] Chr9:14722576 [GRCh38]
Chr9:14722574 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.200G>A (p.Ser67Asn) single nucleotide variant not specified [RCV004428482] Chr9:14722473 [GRCh38]
Chr9:14722471 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.542T>C (p.Val181Ala) single nucleotide variant not specified [RCV004615064] Chr9:14720352 [GRCh38]
Chr9:14720350 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.596C>G (p.Ala199Gly) single nucleotide variant not specified [RCV004615065] Chr9:14720298 [GRCh38]
Chr9:14720296 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.77A>T (p.Asn26Ile) single nucleotide variant not specified [RCV004615063] Chr9:14722596 [GRCh38]
Chr9:14722594 [GRCh37]
Chr9:9p22.3		 uncertain significance
GRCh37/hg19 9p23-22.3(chr9:13927869-15424029)x1 copy number loss Macrocephaly, acquired, with impaired intellectual development [RCV004767745] Chr9:13927869..15424029 [GRCh37]
Chr9:9p23-22.3		 likely pathogenic
GRCh37/hg19 9p24.1-22.3(chr9:6803150-15230350)x3 copy number gain not provided [RCV004819538] Chr9:6803150..15230350 [GRCh37]
Chr9:9p24.1-22.3		 uncertain significance
NM_005454.3(CER1):c.275G>C (p.Arg92Thr) single nucleotide variant not specified [RCV004901810] Chr9:14722398 [GRCh38]
Chr9:14722396 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.320C>T (p.Pro107Leu) single nucleotide variant not specified [RCV004901811] Chr9:14722353 [GRCh38]
Chr9:14722351 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.499T>C (p.Phe167Leu) single nucleotide variant not specified [RCV004901812] Chr9:14722174 [GRCh38]
Chr9:14722172 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.88C>G (p.Leu30Val) single nucleotide variant not specified [RCV004901814] Chr9:14722585 [GRCh38]
Chr9:14722583 [GRCh37]
Chr9:9p22.3		 likely benign
NM_005454.3(CER1):c.700A>T (p.Met234Leu) single nucleotide variant not specified [RCV004901816] Chr9:14720194 [GRCh38]
Chr9:14720192 [GRCh37]
Chr9:9p22.3		 uncertain significance
NM_005454.3(CER1):c.688A>G (p.Ile230Val) single nucleotide variant not specified [RCV004901813] Chr9:14720206 [GRCh38]
Chr9:14720204 [GRCh37]
Chr9:9p22.3		 likely benign
NM_005454.3(CER1):c.350A>T (p.Asp117Val) single nucleotide variant not specified [RCV004901815] Chr9:14722323 [GRCh38]
Chr9:14722321 [GRCh37]
Chr9:9p22.3		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:137
Count of miRNA genes:117
Interacting mature miRNAs:128
Transcripts:ENST00000380911
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596951077GWAS1070596_Hdementia QTL GWAS1070596 (human)0.000005dementia91471788914717890Human
1643245BW137_HBody weight QTL 137 (human)2.28Body weight9528914931289149Human
2302773MAMTS18_HMammary tumor susceptibility QTL 18 (human)0.039Mammary tumor susceptibility9528914931289149Human
1357299AASTH47_HAllergic/atopic asthma related QTL 47 (human)0.00028Reversible airflow obstruction9528914931289149Human
2315898GLUCO191_HGlucose level QTL 191 (human)1.83Glucose level9528914931289149Human
2293400PRSTS224_HProstate tumor susceptibility QTL 224 (human)1.62Prostate tumor susceptibility9528914931289149Human
2293433PRSTS223_HProstate tumor susceptibility QTL 223 (human)1.6Prostate tumor susceptibility9528914931289149Human
597261319GWAS1357393_Hdementia QTL GWAS1357393 (human)0.000005dementia91471788914717890Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
735 1156 1406 1583 2879 560 711 160 283 91 1214 3098 2973 22 2368 398 924 533 70

Sequence


Ensembl Acc Id: ENST00000380911   ⟹   ENSP00000370297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl914,719,724 - 14,722,733 (-)Ensembl
RefSeq Acc Id: NM_005454   ⟹   NP_005445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,719,724 - 14,722,733 (-)NCBI
GRCh37914,719,731 - 14,722,715 (-)RGD
Build 36914,709,731 - 14,712,715 (-)NCBI Archive
Celera914,653,168 - 14,656,152 (-)RGD
HuRef914,683,023 - 14,686,007 (-)ENTREZGENE
CHM1_1914,719,774 - 14,722,758 (-)NCBI
T2T-CHM13v2.0914,729,432 - 14,732,441 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746419
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,717,326 - 14,722,733 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008488107
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0914,724,810 - 14,732,441 (-)NCBI
RefSeq Acc Id: NP_005445   ⟸   NM_005454
- Peptide Label: precursor
- UniProtKB: Q6ISQ2 (UniProtKB/Swiss-Prot),   Q6ISJ6 (UniProtKB/Swiss-Prot),   Q6ISJ1 (UniProtKB/Swiss-Prot),   Q6ISS1 (UniProtKB/Swiss-Prot),   O95813 (UniProtKB/Swiss-Prot),   Q3SY34 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000370297   ⟸   ENST00000380911
Protein Domains
CTCK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95813-F1-model_v2 AlphaFold O95813 1-267 view protein structure

Promoters
RGD ID:7214699
Promoter ID:EPDNEW_H13096
Type:initiation region
Name:CER1_1
Description:cerberus 1, DAN family BMP antagonist
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38914,722,733 - 14,722,793EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1862 AgrOrtholog
COSMIC CER1 COSMIC
Ensembl Genes ENSG00000147869 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380911 ENTREZGENE
  ENST00000380911.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147869 GTEx
HGNC ID HGNC:1862 ENTREZGENE
Human Proteome Map CER1 Human Proteome Map
InterPro Cerberus UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9350 UniProtKB/Swiss-Prot
NCBI Gene 9350 ENTREZGENE
OMIM 603777 OMIM
PANTHER CERBERUS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15273 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26417 PharmGKB
PIRSF Cerberus UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CER1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3SY34 ENTREZGENE, UniProtKB/TrEMBL
  Q6ISJ1 ENTREZGENE
  Q6ISJ6 ENTREZGENE
  Q6ISQ2 ENTREZGENE
  Q6ISS1 ENTREZGENE
UniProt Secondary Q6ISJ1 UniProtKB/Swiss-Prot
  Q6ISJ6 UniProtKB/Swiss-Prot
  Q6ISQ2 UniProtKB/Swiss-Prot
  Q6ISS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-05 CER1  cerberus 1, DAN family BMP antagonist  CER1  cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED