CDH12 (cadherin 12) - Rat Genome Database

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Gene: CDH12 (cadherin 12) Homo sapiens
Analyze
Symbol: CDH12
Name: cadherin 12
RGD ID: 1343875
HGNC Page HGNC:1751
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Predicted to be involved in several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell-cell adhesion mediated by cadherin; and cell-cell junction organization. Predicted to be located in plasma membrane. Predicted to be part of catenin complex. Predicted to be active in adherens junction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Br-cadherin; brain cadherin; brain-cadherin; cadherin 12, type 2 (N-cadherin 2); cadherin, neural type, 2; cadherin-12; CDHB; FLJ34857; N-cadherin 2; neural type cadherin 2; neuronal cadherin 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: CDH12P1   CDH12P2   CDH12P3   CDH12P4  
Allele / Splice: See ClinVar data
Candidate Gene For: MAMTS101_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38521,750,673 - 22,853,344 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl521,750,673 - 22,853,344 (-)EnsemblGRCh38hg38GRCh38
GRCh37521,750,782 - 22,853,453 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36521,786,911 - 22,889,488 (-)NCBINCBI36Build 36hg18NCBI36
Build 34521,786,910 - 22,889,488NCBI
Celera521,615,397 - 22,740,089 (-)NCBICelera
Cytogenetic Map5p14.3NCBI
HuRef521,604,798 - 22,819,780 (-)NCBIHuRef
CHM1_1521,750,833 - 22,853,585 (-)NCBICHM1_1
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1436057   PMID:2059658   PMID:7545953   PMID:7731968   PMID:7806582   PMID:7982033   PMID:9122206   PMID:9615235   PMID:10191097   PMID:10861224   PMID:12477932   PMID:14702039  
PMID:17608962   PMID:19473719   PMID:19557197   PMID:19567891   PMID:20379614   PMID:20453000   PMID:21573496   PMID:21873635   PMID:23502783   PMID:24237488   PMID:26762412   PMID:28514442  
PMID:31911611   PMID:33961781   PMID:34385456   PMID:36141853  


Genomics

Comparative Map Data
CDH12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38521,750,673 - 22,853,344 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl521,750,673 - 22,853,344 (-)EnsemblGRCh38hg38GRCh38
GRCh37521,750,782 - 22,853,453 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36521,786,911 - 22,889,488 (-)NCBINCBI36Build 36hg18NCBI36
Build 34521,786,910 - 22,889,488NCBI
Celera521,615,397 - 22,740,089 (-)NCBICelera
Cytogenetic Map5p14.3NCBI
HuRef521,604,798 - 22,819,780 (-)NCBIHuRef
CHM1_1521,750,833 - 22,853,585 (-)NCBICHM1_1
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)NCBIT2T-CHM13v2.0
Cdh12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391520,448,967 - 21,598,668 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1520,449,351 - 21,589,619 (+)EnsemblGRCm39 Ensembl
GRCm381520,448,878 - 21,598,421 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1520,449,265 - 21,589,533 (+)EnsemblGRCm38mm10GRCm38
MGSCv371521,041,207 - 21,519,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361521,056,177 - 21,534,258 (+)NCBIMGSCv36mm8
Celera1522,028,455 - 22,369,031 (+)NCBICelera
Cytogenetic Map15A2NCBI
cM Map158.25NCBI
Cdh12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8272,201,859 - 73,436,039 (+)NCBIGRCr8
mRatBN7.2270,474,679 - 71,705,369 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl270,475,043 - 71,700,572 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0271,310,228 - 72,540,063 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl272,006,099 - 72,540,263 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0291,039,561 - 92,271,682 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4272,175,690 - 72,598,944 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera266,295,278 - 67,494,155 (+)NCBICelera
Cytogenetic Map2q22NCBI
Cdh12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554269,651,959 - 10,059,415 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554269,652,418 - 10,610,762 (-)NCBIChiLan1.0ChiLan1.0
CDH12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2487,502,309 - 88,605,663 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1585,655,954 - 86,759,309 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0588,532,493 - 88,636,522 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1594,143,751 - 94,269,418 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl594,160,742 - 94,268,811 (+)Ensemblpanpan1.1panPan2
CDH12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1482,501,335 - 83,124,378 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl482,875,494 - 83,123,473 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha481,810,642 - 82,766,572 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0482,774,803 - 83,742,031 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl483,327,616 - 83,741,351 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1482,308,589 - 83,268,674 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0482,561,447 - 83,521,372 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0483,263,631 - 84,299,820 (+)NCBIUU_Cfam_GSD_1.0
Cdh12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213214,331,894 - 215,268,682 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936775516,237 - 789,589 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936775515,504 - 789,575 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDH12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl169,985,126 - 10,384,663 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1169,985,759 - 10,975,489 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21610,811,499 - 11,212,363 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CDH12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1421,183,585 - 22,272,005 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660646,125,823 - 7,234,642 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CDH12
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p14.3(chr5:21540110-22245962)x1 copy number loss See cases [RCV000050660] Chr5:21540110..22245962 [GRCh38]
Chr5:21540219..22246071 [GRCh37]
Chr5:21575976..22281828 [NCBI36]
Chr5:5p14.3
uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p14.3-14.2(chr5:22047370-23432978)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051833]|See cases [RCV000051833] Chr5:22047370..23432978 [GRCh38]
Chr5:22047479..23433087 [GRCh37]
Chr5:22083236..23468844 [NCBI36]
Chr5:5p14.3-14.2
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1 copy number loss See cases [RCV000053447] Chr5:13609772..21930280 [GRCh38]
Chr5:13609881..21930389 [GRCh37]
Chr5:13662881..21966146 [NCBI36]
Chr5:5p15.2-14.3
pathogenic
GRCh38/hg38 5p14.3(chr5:21852725-21964074)x1 copy number loss See cases [RCV000054131] Chr5:21852725..21964074 [GRCh38]
Chr5:21852834..21964183 [GRCh37]
Chr5:21888591..21999940 [NCBI36]
Chr5:5p14.3
uncertain significance
NM_004061.3(CDH12):c.1002+3386C>G single nucleotide variant Lung cancer [RCV000095671] Chr5:21813559 [GRCh38]
Chr5:21813668 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.3(CDH12):c.815-12405T>A single nucleotide variant Lung cancer [RCV000095672] Chr5:21829537 [GRCh38]
Chr5:21829646 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.3(CDH12):c.231+15128T>C single nucleotide variant Lung cancer [RCV000095673] Chr5:22063318 [GRCh38]
Chr5:22063427 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.3(CDH12):c.-523+144861T>A single nucleotide variant Lung cancer [RCV000095676] Chr5:22708197 [GRCh38]
Chr5:22708306 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.3(CDH12):c.-523+67840A>T single nucleotide variant Lung cancer [RCV000095677] Chr5:22785218 [GRCh38]
Chr5:22785327 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p14.3(chr5:21872032-22156537)x1 copy number loss See cases [RCV000135474] Chr5:21872032..22156537 [GRCh38]
Chr5:21872141..22156646 [GRCh37]
Chr5:21907898..22192403 [NCBI36]
Chr5:5p14.3
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p14.3(chr5:21931123-22225759)x1 copy number loss See cases [RCV000138136] Chr5:21931123..22225759 [GRCh38]
Chr5:21931232..22225868 [GRCh37]
Chr5:21966989..22261625 [NCBI36]
Chr5:5p14.3
likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p14.3-14.2(chr5:22002509-23432919)x3 copy number gain See cases [RCV000140367] Chr5:22002509..23432919 [GRCh38]
Chr5:22002618..23433028 [GRCh37]
Chr5:22038375..23468785 [NCBI36]
Chr5:5p14.3-14.2
likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p14.3(chr5:22156478-22582784)x3 copy number gain See cases [RCV000142768] Chr5:22156478..22582784 [GRCh38]
Chr5:22156587..22582893 [GRCh37]
Chr5:22192344..22618650 [NCBI36]
Chr5:5p14.3
uncertain significance
GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1 copy number loss See cases [RCV000142584] Chr5:18379122..26803906 [GRCh38]
Chr5:18379231..26804015 [GRCh37]
Chr5:18414988..26839772 [NCBI36]
Chr5:5p15.1-14.1
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p14.3(chr5:21919775-22243598)x1 copy number loss See cases [RCV000143550] Chr5:21919775..22243598 [GRCh38]
Chr5:21919884..22243707 [GRCh37]
Chr5:21955641..22279464 [NCBI36]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p14.3(chr5:22657926-23156895)x3 copy number gain See cases [RCV000515590] Chr5:22657926..23156895 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Obesity [RCV000626556] Chr5:22308420..24492723 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.3-13.3(chr5:21528945-29900961)x3 copy number gain not provided [RCV000682540] Chr5:21528945..29900961 [GRCh37]
Chr5:5p14.3-13.3
uncertain significance
GRCh37/hg19 5p14.3(chr5:19676979-22800583)x1 copy number loss not provided [RCV000682535] Chr5:19676979..22800583 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3(chr5:22770421-23082328)x3 copy number gain not provided [RCV000682541] Chr5:22770421..23082328 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p14.3-14.2(chr5:18606044-23660010)x3 copy number gain not provided [RCV000744526] Chr5:18606044..23660010 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p14.3(chr5:22156155-22233716)x3 copy number gain not provided [RCV000744555] Chr5:22156155..22233716 [GRCh37]
Chr5:5p14.3
benign
GRCh37/hg19 5p14.3(chr5:22655865-22718422)x3 copy number gain not provided [RCV000744556] Chr5:22655865..22718422 [GRCh37]
Chr5:5p14.3
benign
GRCh37/hg19 5p14.3(chr5:22812264-22856741)x3 copy number gain not provided [RCV000744557] Chr5:22812264..22856741 [GRCh37]
Chr5:5p14.3
benign
GRCh37/hg19 5p14.3(chr5:22812264-22866518)x3 copy number gain not provided [RCV000744558] Chr5:22812264..22866518 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1644G>A (p.Ala548=) single nucleotide variant not provided [RCV000919112] Chr5:21755832 [GRCh38]
Chr5:21755941 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.1301T>C (p.Ile434Thr) single nucleotide variant Inborn genetic diseases [RCV003244555] Chr5:21783450 [GRCh38]
Chr5:21783559 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1424T>C (p.Ile475Thr) single nucleotide variant not provided [RCV000966184] Chr5:21765069 [GRCh38]
Chr5:21765178 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.2340C>T (p.Asp780=) single nucleotide variant not provided [RCV000905085] Chr5:21751782 [GRCh38]
Chr5:21751891 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.780C>T (p.Thr260=) single nucleotide variant not provided [RCV000968593] Chr5:21842195 [GRCh38]
Chr5:21842304 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.2223C>T (p.Tyr741=) single nucleotide variant not provided [RCV000902573] Chr5:21751899 [GRCh38]
Chr5:21752008 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1585T>C (p.Ser529Pro) single nucleotide variant not provided [RCV000915220] Chr5:21760606 [GRCh38]
Chr5:21760715 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.639C>G (p.Pro213=) single nucleotide variant not provided [RCV000973183] Chr5:21854678 [GRCh38]
Chr5:21854787 [GRCh37]
Chr5:5p14.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_004061.5(CDH12):c.180A>G (p.Gln60=) single nucleotide variant not provided [RCV000879986] Chr5:22078497 [GRCh38]
Chr5:22078606 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1596T>C (p.Ala532=) single nucleotide variant not provided [RCV000886956] Chr5:21760595 [GRCh38]
Chr5:21760704 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1794C>T (p.Ile598=) single nucleotide variant not provided [RCV000897499] Chr5:21755682 [GRCh38]
Chr5:21755791 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.1179T>G (p.Val393=) single nucleotide variant not provided [RCV000931913] Chr5:21802244 [GRCh38]
Chr5:21802353 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.570G>A (p.Pro190=) single nucleotide variant not provided [RCV000892861] Chr5:21854747 [GRCh38]
Chr5:21854856 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.2270T>C (p.Leu757Pro) single nucleotide variant not provided [RCV000946837] Chr5:21751852 [GRCh38]
Chr5:21751961 [GRCh37]
Chr5:5p14.3
likely benign
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p14.3(chr5:22284859-22762721)x1 copy number loss not provided [RCV001005664] Chr5:22284859..22762721 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1473G>A (p.Val491=) single nucleotide variant not provided [RCV000937159] Chr5:21765020 [GRCh38]
Chr5:21765129 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.327G>A (p.Gly109=) single nucleotide variant not provided [RCV000937160] Chr5:21975290 [GRCh38]
Chr5:21975399 [GRCh37]
Chr5:5p14.3
benign
GRCh37/hg19 5p14.3-14.2(chr5:22840105-23682150)x4 copy number gain not provided [RCV001005665] Chr5:22840105..23682150 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
NM_004061.5(CDH12):c.393T>G (p.Ala131=) single nucleotide variant not provided [RCV000914740] Chr5:21975224 [GRCh38]
Chr5:21975333 [GRCh37]
Chr5:5p14.3
likely benign
GRCh37/hg19 5p14.3(chr5:20002584-22393176)x3 copy number gain not provided [RCV001005660] Chr5:20002584..22393176 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3-14.2(chr5:22265414-24492214)x3 copy number gain not provided [RCV001005663] Chr5:22265414..24492214 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
NM_004061.5(CDH12):c.372C>A (p.Phe124Leu) single nucleotide variant Inborn genetic diseases [RCV003289061] Chr5:21975245 [GRCh38]
Chr5:21975354 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1763G>A (p.Arg588Gln) single nucleotide variant Inborn genetic diseases [RCV003239701] Chr5:21755713 [GRCh38]
Chr5:21755822 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.100G>C (p.Glu34Gln) single nucleotide variant not provided [RCV000907183] Chr5:22078577 [GRCh38]
Chr5:22078686 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1003-3C>T single nucleotide variant not provided [RCV000953728] Chr5:21802423 [GRCh38]
Chr5:21802532 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.1047G>T (p.Glu349Asp) single nucleotide variant not provided [RCV000953782] Chr5:21802376 [GRCh38]
Chr5:21802485 [GRCh37]
Chr5:5p14.3
benign
NM_004061.5(CDH12):c.621T>A (p.Pro207=) single nucleotide variant not provided [RCV000931284] Chr5:21854696 [GRCh38]
Chr5:21854805 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.1848G>A (p.Ala616=) single nucleotide variant not provided [RCV000917548] Chr5:21755628 [GRCh38]
Chr5:21755737 [GRCh37]
Chr5:5p14.3
likely benign
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NM_004061.5(CDH12):c.666G>A (p.Leu222=) single nucleotide variant not provided [RCV000935368] Chr5:21842309 [GRCh38]
Chr5:21842418 [GRCh37]
Chr5:5p14.3
likely benign
GRCh37/hg19 5p14.3(chr5:22130874-22556566)x1 copy number loss not provided [RCV002472588] Chr5:22130874..22556566 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3
pathogenic
GRCh37/hg19 5p14.3(chr5:21633198-22012296)x3 copy number gain not provided [RCV002473878] Chr5:21633198..22012296 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3(chr5:21528584-21845788)x3 copy number gain not provided [RCV001005662] Chr5:21528584..21845788 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3-14.2(chr5:22546550-23554888)x1 copy number loss not provided [RCV001258687] Chr5:22546550..23554888 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3 copy number gain not provided [RCV001258689] Chr5:16741484..23963898 [GRCh37]
Chr5:5p15.1-14.2
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3 copy number gain not provided [RCV001258686] Chr5:19324003..30115028 [GRCh37]
Chr5:5p14.3-13.3
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p14.3(chr5:21740926-21792313)x1 copy number loss not provided [RCV002474883] Chr5:21740926..21792313 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1160C>T (p.Pro387Leu) single nucleotide variant Inborn genetic diseases [RCV002879560] Chr5:21802263 [GRCh38]
Chr5:21802372 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.2284G>T (p.Asp762Tyr) single nucleotide variant Inborn genetic diseases [RCV002969581] Chr5:21751838 [GRCh38]
Chr5:21751947 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.137G>A (p.Arg46Gln) single nucleotide variant Inborn genetic diseases [RCV002997542] Chr5:22078540 [GRCh38]
Chr5:22078649 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1976A>T (p.His659Leu) single nucleotide variant Inborn genetic diseases [RCV002969491] Chr5:21752146 [GRCh38]
Chr5:21752255 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.136C>T (p.Arg46Trp) single nucleotide variant Inborn genetic diseases [RCV002992364] Chr5:22078541 [GRCh38]
Chr5:22078650 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1847C>T (p.Ala616Val) single nucleotide variant Inborn genetic diseases [RCV002841306] Chr5:21755629 [GRCh38]
Chr5:21755738 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1141C>A (p.Pro381Thr) single nucleotide variant Inborn genetic diseases [RCV002728845] Chr5:21802282 [GRCh38]
Chr5:21802391 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
NM_004061.5(CDH12):c.15C>G (p.Asn5Lys) single nucleotide variant Inborn genetic diseases [RCV002883673] Chr5:22078662 [GRCh38]
Chr5:22078771 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_004061.5(CDH12):c.352G>A (p.Asp118Asn) single nucleotide variant Inborn genetic diseases [RCV002910722] Chr5:21975265 [GRCh38]
Chr5:21975374 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.484G>C (p.Asp162His) single nucleotide variant Inborn genetic diseases [RCV002977533] Chr5:21975133 [GRCh38]
Chr5:21975242 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.919A>G (p.Asn307Asp) single nucleotide variant Inborn genetic diseases [RCV002738339] Chr5:21817028 [GRCh38]
Chr5:21817137 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.581A>G (p.Asn194Ser) single nucleotide variant Inborn genetic diseases [RCV002929742] Chr5:21854736 [GRCh38]
Chr5:21854845 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.2188G>A (p.Ala730Thr) single nucleotide variant Inborn genetic diseases [RCV002664776] Chr5:21751934 [GRCh38]
Chr5:21752043 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.2179G>A (p.Asp727Asn) single nucleotide variant Inborn genetic diseases [RCV002826897] Chr5:21751943 [GRCh38]
Chr5:21752052 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.599A>T (p.Tyr200Phe) single nucleotide variant Inborn genetic diseases [RCV002697332] Chr5:21854718 [GRCh38]
Chr5:21854827 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.847C>G (p.Pro283Ala) single nucleotide variant Inborn genetic diseases [RCV002709229] Chr5:21817100 [GRCh38]
Chr5:21817209 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1444G>A (p.Val482Ile) single nucleotide variant Inborn genetic diseases [RCV003003770] Chr5:21765049 [GRCh38]
Chr5:21765158 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.2119A>G (p.Met707Val) single nucleotide variant Inborn genetic diseases [RCV002983406] Chr5:21752003 [GRCh38]
Chr5:21752112 [GRCh37]
Chr5:5p14.3
likely benign
NM_004061.5(CDH12):c.376A>G (p.Thr126Ala) single nucleotide variant Inborn genetic diseases [RCV003254329] Chr5:21975241 [GRCh38]
Chr5:21975350 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.748G>T (p.Ala250Ser) single nucleotide variant Inborn genetic diseases [RCV003214395] Chr5:21842227 [GRCh38]
Chr5:21842336 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.964G>T (p.Asp322Tyr) single nucleotide variant Inborn genetic diseases [RCV003201194] Chr5:21816983 [GRCh38]
Chr5:21817092 [GRCh37]
Chr5:5p14.3
uncertain significance
NM_004061.5(CDH12):c.1981G>A (p.Asp661Asn) single nucleotide variant Inborn genetic diseases [RCV003203024] Chr5:21752141 [GRCh38]
Chr5:21752250 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p14.3(chr5:21643506-22003203)x3 copy number gain not provided [RCV003484607] Chr5:21643506..22003203 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3(chr5:21122431-22521043)x1 copy number loss not provided [RCV003485457] Chr5:21122431..22521043 [GRCh37]
Chr5:5p14.3
uncertain significance
GRCh37/hg19 5p14.3-14.1(chr5:20705662-26089042)x3 copy number gain not specified [RCV003986594] Chr5:20705662..26089042 [GRCh37]
Chr5:5p14.3-14.1
uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1101
Count of miRNA genes:633
Interacting mature miRNAs:689
Transcripts:ENST00000382254, ENST00000504376, ENST00000517378, ENST00000518209, ENST00000520668, ENST00000521384, ENST00000521745, ENST00000522262
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.

Markers in Region
D5S2845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,390,648 - 22,390,801UniSTSGRCh37
Build 36522,426,405 - 22,426,558RGDNCBI36
Celera522,277,005 - 22,277,158RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,355,660 - 22,355,813UniSTS
Marshfield Genetic Map536.25UniSTS
Marshfield Genetic Map536.25RGD
G10554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,190,434 - 22,190,535UniSTSGRCh37
GRCh37570,719,545 - 70,719,656UniSTSGRCh37
Build 36522,226,191 - 22,226,292RGDNCBI36
Cytogenetic Map5p14.3UniSTS
HuRef522,155,605 - 22,155,698UniSTS
Marshfield Genetic Map575.89UniSTS
Marshfield Genetic Map575.89RGD
RH83560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,142,418 - 22,143,095UniSTSGRCh37
GRCh37570,671,569 - 70,672,246UniSTSGRCh37
Build 36522,178,175 - 22,178,852RGDNCBI36
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map5q13UniSTS
HuRef565,908,694 - 65,909,371UniSTS
HuRef522,107,319 - 22,107,996UniSTS
GeneMap99-GB4 RH Map575.79UniSTS
RH26926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,674,103 - 70,674,217UniSTSGRCh37
GRCh37522,144,958 - 22,145,072UniSTSGRCh37
Build 36522,180,715 - 22,180,829RGDNCBI36
Cytogenetic Map5q13UniSTS
Cytogenetic Map5p14.3UniSTS
HuRef565,911,227 - 65,911,341UniSTS
HuRef522,109,859 - 22,109,973UniSTS
RH70218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,143,029 - 22,143,181UniSTSGRCh37
Build 36522,178,786 - 22,178,938RGDNCBI36
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map5q13UniSTS
HuRef522,107,930 - 22,108,082UniSTS
RH70898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,513,084 - 57,513,256UniSTSGRCh37
Build 36657,621,043 - 57,621,215RGDNCBI36
Celera6877,113 - 877,289UniSTS
Celera6715,921 - 716,093RGD
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map6p12-p11.1UniSTS
HuRef658,439,898 - 58,440,070UniSTS
HuRef521,733,817 - 21,733,993UniSTS
RH46723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37657,513,083 - 57,513,265UniSTSGRCh37
Build 36657,621,042 - 57,621,224RGDNCBI36
Celera6877,104 - 877,290UniSTS
Celera6715,920 - 716,102RGD
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map6p12-p11.1UniSTS
HuRef658,439,897 - 58,440,079UniSTS
HuRef521,733,808 - 21,733,994UniSTS
SHGC-77883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,432,811 - 22,433,095UniSTSGRCh37
Build 36522,468,568 - 22,468,852RGDNCBI36
Celera522,319,168 - 22,319,452RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,397,749 - 22,398,033UniSTS
TNG Radiation Hybrid Map511590.0UniSTS
RH119411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,300,028 - 22,300,374UniSTSGRCh37
Build 36522,335,785 - 22,336,131RGDNCBI36
Celera522,186,368 - 22,186,714RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,265,040 - 22,265,386UniSTS
TNG Radiation Hybrid Map511636.0UniSTS
RH122894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,133,089 - 22,133,367UniSTSGRCh37
GRCh37570,662,244 - 70,662,522UniSTSGRCh37
Build 36522,168,846 - 22,169,124RGDNCBI36
Cytogenetic Map5p14.3UniSTS
HuRef565,899,124 - 65,899,402UniSTS
HuRef522,098,007 - 22,098,285UniSTS
TNG Radiation Hybrid Map532527.0UniSTS
RH118843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,441,383 - 22,441,684UniSTSGRCh37
Build 36522,477,140 - 22,477,441RGDNCBI36
Celera522,327,743 - 22,328,044RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,406,334 - 22,406,635UniSTS
TNG Radiation Hybrid Map511575.0UniSTS
SHGC-110162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37521,895,537 - 21,895,729UniSTSGRCh37
Build 36521,931,294 - 21,931,486RGDNCBI36
Celera521,762,715 - 21,762,907RGD
Cytogenetic Map5p14.3UniSTS
HuRef521,862,019 - 21,862,211UniSTS
TNG Radiation Hybrid Map511385.0UniSTS
SHGC-110541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,228,808 - 22,229,079UniSTSGRCh37
Build 36522,264,565 - 22,264,836RGDNCBI36
Celera522,115,460 - 22,115,731RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,193,829 - 22,194,099UniSTS
TNG Radiation Hybrid Map532409.0UniSTS
SHGC-111335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37570,712,280 - 70,712,550UniSTSGRCh37
GRCh37522,183,106 - 22,183,376UniSTSGRCh37
Build 36522,218,863 - 22,219,133RGDNCBI36
Celera522,071,393 - 22,071,663RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,148,275 - 22,148,545UniSTS
HuRef565,921,396 - 65,921,666UniSTS
TNG Radiation Hybrid Map532479.0UniSTS
SHGC-111727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,588,878 - 22,589,169UniSTSGRCh37
Build 36522,624,635 - 22,624,926RGDNCBI36
Celera522,475,293 - 22,475,584RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,554,650 - 22,554,941UniSTS
TNG Radiation Hybrid Map511723.0UniSTS
SHGC-145400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,506,974 - 22,507,265UniSTSGRCh37
Build 36522,542,731 - 22,543,022RGDNCBI36
Celera522,393,370 - 22,393,661RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,471,993 - 22,472,284UniSTS
TNG Radiation Hybrid Map117341.0UniSTS
SHGC-79735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37521,910,199 - 21,910,502UniSTSGRCh37
Build 36521,945,956 - 21,946,259RGDNCBI36
Celera521,777,370 - 21,777,673RGD
Cytogenetic Map5p14.3UniSTS
HuRef521,876,677 - 21,876,980UniSTS
TNG Radiation Hybrid Map511398.0UniSTS
SHGC-83455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,424,795 - 22,425,135UniSTSGRCh37
Build 36522,460,552 - 22,460,892RGDNCBI36
Celera522,311,151 - 22,311,491RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,389,735 - 22,390,075UniSTS
TNG Radiation Hybrid Map511590.0UniSTS
CDH12_520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37521,751,142 - 21,751,944UniSTSGRCh37
Build 36521,786,899 - 21,787,701RGDNCBI36
Celera521,615,571 - 21,616,385RGD
HuRef521,604,972 - 21,605,786UniSTS
AFM225yc5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,511,931 - 22,512,152UniSTSGRCh37
Build 36522,547,688 - 22,547,909RGDNCBI36
Celera522,398,327 - 22,398,548RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,476,950 - 22,477,171UniSTS
Whitehead-RH Map584.5UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map553.1UniSTS
RH71451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37521,751,273 - 21,751,404UniSTSGRCh37
Build 36521,787,030 - 21,787,161RGDNCBI36
Celera521,615,702 - 21,615,831RGD
Cytogenetic Map5p14.3UniSTS
HuRef521,605,103 - 21,605,232UniSTS
GeneMap99-GB4 RH Map575.79UniSTS
NCBI RH Map553.1UniSTS
G16049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,318,239 - 22,318,390UniSTSGRCh37
Build 36522,353,996 - 22,354,147RGDNCBI36
Celera522,204,588 - 22,204,739RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,283,283 - 22,283,434UniSTS
SGC31172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37522,666,054 - 22,666,203UniSTSGRCh37
Build 36522,701,811 - 22,701,960RGDNCBI36
Celera522,552,448 - 22,552,597RGD
Cytogenetic Map5p14.3UniSTS
HuRef522,631,876 - 22,632,025UniSTS
TNG Radiation Hybrid Map511734.0UniSTS
GeneMap99-GB4 RH Map580.58UniSTS
Whitehead-RH Map584.0UniSTS
NCBI RH Map553.1UniSTS
D6S1498  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map6p12-p11.1UniSTS
HuRef521,733,887 - 21,734,228UniSTS
SHGC-31574  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p14.3UniSTS
Cytogenetic Map6p12-p11.1UniSTS
HuRef521,734,171 - 21,734,372UniSTS
Stanford-G3 RH Map63005.0UniSTS
NCBI RH Map6738.6UniSTS
GeneMap99-G3 RH Map63137.0UniSTS
D5S411  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p14.3UniSTS
Marshfield Genetic Map536.25UniSTS
Genethon Genetic Map535.6UniSTS
deCODE Assembly Map541.22UniSTS
Whitehead-RH Map584.4UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map553.1UniSTS
D5S411  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p14.3UniSTS
TNG Radiation Hybrid Map511322.0UniSTS
GeneMap99-GB4 RH Map575.59UniSTS
NCBI RH Map553.1UniSTS


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 pharyngeal arch
High
Medium 2 11 4 2 4 2 11 9 8 16 33
Low 20 8 549 156 138 43 578 18 1830 104 478 90 117 1 40 230 1
Below cutoff 1522 1089 537 254 455 209 2695 912 1787 212 677 756 47 905 1602 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC034239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC876953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L33477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z16831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000382254   ⟹   ENSP00000371689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl521,750,673 - 22,853,344 (-)Ensembl
RefSeq Acc Id: ENST00000504376   ⟹   ENSP00000423577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl521,750,673 - 22,853,341 (-)Ensembl
RefSeq Acc Id: ENST00000517378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl521,751,737 - 22,212,769 (-)Ensembl
RefSeq Acc Id: ENST00000518209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl522,078,484 - 22,212,488 (-)Ensembl
RefSeq Acc Id: ENST00000520668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl522,278,011 - 22,638,994 (-)Ensembl
RefSeq Acc Id: ENST00000521384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl521,751,695 - 21,889,847 (-)Ensembl
RefSeq Acc Id: ENST00000521745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl522,078,701 - 22,212,729 (-)Ensembl
RefSeq Acc Id: ENST00000522262   ⟹   ENSP00000428786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl521,751,497 - 22,213,750 (-)Ensembl
RefSeq Acc Id: NM_001317227   ⟹   NP_001304156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,212,769 (-)NCBI
CHM1_1521,750,835 - 22,078,977 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,320,392 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317228   ⟹   NP_001304157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,866 - 22,213,800 (-)NCBI
CHM1_1521,750,835 - 22,213,891 (-)NCBI
T2T-CHM13v2.0521,858,184 - 22,321,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364104   ⟹   NP_001351033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,853,344 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364105   ⟹   NP_001351034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,853,344 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364106   ⟹   NP_001351035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,853,344 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364107   ⟹   NP_001351036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,213,850 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,321,473 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364108   ⟹   NP_001351037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,213,850 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,321,473 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364109   ⟹   NP_001351038
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 21,889,847 (-)NCBI
T2T-CHM13v2.0521,857,991 - 21,997,442 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004061   ⟹   NP_004052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,853,344 (-)NCBI
GRCh37521,750,870 - 22,853,731 (-)NCBI
Build 36521,786,911 - 22,889,488 (-)NCBI Archive
Celera521,615,397 - 22,740,089 (-)RGD
HuRef521,604,798 - 22,819,780 (-)RGD
CHM1_1521,750,835 - 22,853,585 (-)NCBI
T2T-CHM13v2.0521,857,991 - 22,961,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416602   ⟹   XP_047272558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38521,750,673 - 22,853,344 (-)NCBI
RefSeq Acc Id: XM_054351385   ⟹   XP_054207360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0521,857,991 - 22,280,751 (-)NCBI
RefSeq Acc Id: NP_004052   ⟸   NM_004061
- Peptide Label: isoform 1 preproprotein
- UniProtKB: B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot),   P55289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304157   ⟸   NM_001317228
- Peptide Label: isoform 2 precursor
- UniProtKB: P55289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304156   ⟸   NM_001317227
- Peptide Label: isoform 1 preproprotein
- UniProtKB: B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot),   P55289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001351033   ⟸   NM_001364104
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001351035   ⟸   NM_001364106
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001351034   ⟸   NM_001364105
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001351037   ⟸   NM_001364108
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001351036   ⟸   NM_001364107
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001351038   ⟸   NM_001364109
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000423577   ⟸   ENST00000504376
RefSeq Acc Id: ENSP00000428786   ⟸   ENST00000522262
RefSeq Acc Id: ENSP00000371689   ⟸   ENST00000382254
RefSeq Acc Id: XP_047272558   ⟸   XM_047416602
- Peptide Label: isoform X1
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054207360   ⟸   XM_054351385
- Peptide Label: isoform X1
- UniProtKB: P55289 (UniProtKB/Swiss-Prot),   B7Z2U6 (UniProtKB/Swiss-Prot),   B2RBT1 (UniProtKB/Swiss-Prot),   Q86UD2 (UniProtKB/Swiss-Prot)
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55289-F1-model_v2 AlphaFold P55289 1-794 view protein structure

Promoters
RGD ID:6869326
Promoter ID:EPDNEW_H7812
Type:initiation region
Name:CDH12_1
Description:cadherin 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7813  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38522,212,769 - 22,212,829EPDNEW
RGD ID:6869296
Promoter ID:EPDNEW_H7813
Type:initiation region
Name:CDH12_2
Description:cadherin 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7812  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38522,853,344 - 22,853,404EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1751 AgrOrtholog
COSMIC CDH12 COSMIC
Ensembl Genes ENSG00000154162 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382254 ENTREZGENE
  ENST00000382254.6 UniProtKB/Swiss-Prot
  ENST00000504376 ENTREZGENE
  ENST00000504376.6 UniProtKB/Swiss-Prot
  ENST00000522262 ENTREZGENE
  ENST00000522262.1 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000154162 GTEx
HGNC ID HGNC:1751 ENTREZGENE
Human Proteome Map CDH12 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:1010 UniProtKB/Swiss-Prot
NCBI Gene 1010 ENTREZGENE
OMIM 600562 OMIM
PANTHER CADHERIN-12 UniProtKB/Swiss-Prot
  PTHR24027 UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_C UniProtKB/Swiss-Prot
PharmGKB PA26285 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt B2RBT1 ENTREZGENE
  B7Z2U6 ENTREZGENE
  CAD12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86UD2 ENTREZGENE
UniProt Secondary B2RBT1 UniProtKB/Swiss-Prot
  B7Z2U6 UniProtKB/Swiss-Prot
  Q86UD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CDH12  cadherin 12  CDH12  cadherin 12, type 2 (N-cadherin 2)  Symbol and/or name change 5135510 APPROVED