Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29662167 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Prostatic Neoplasms | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:29662167 | |
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# | 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 |
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 |
CDH12 (Homo sapiens - human) |
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Cdh12 (Mus musculus - house mouse) |
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Cdh12 (Rattus norvegicus - Norway rat) |
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Cdh12 (Chinchilla lanigera - long-tailed chinchilla) |
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CDH12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CDH12 (Canis lupus familiaris - dog) |
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Cdh12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CDH12 (Sus scrofa - pig) |
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CDH12 (Chlorocebus sabaeus - green monkey) |
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Variants in CDH12
67 total 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 |
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. |
D5S2845 |
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G10554 |
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RH83560 |
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RH26926 |
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RH70218 |
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RH70898 |
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RH46723 |
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SHGC-77883 |
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RH119411 |
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RH122894 |
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RH118843 |
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SHGC-110162 |
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SHGC-110541 |
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SHGC-111335 |
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SHGC-111727 |
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SHGC-145400 |
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SHGC-79735 |
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SHGC-83455 |
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CDH12_520 |
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AFM225yc5 |
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RH71451 |
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G16049 |
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SGC31172 |
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D6S1498 |
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SHGC-31574 |
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D5S411 |
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D5S411 |
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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 |
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: |
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RefSeq Acc Id: | ENST00000504376 ⟹ ENSP00000423577 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000517378 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000518209 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000520668 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000521384 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000521745 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000522262 ⟹ ENSP00000428786 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001317227 ⟹ NP_001304156 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001317228 ⟹ NP_001304157 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364104 ⟹ NP_001351033 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364105 ⟹ NP_001351034 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364106 ⟹ NP_001351035 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364107 ⟹ NP_001351036 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364108 ⟹ NP_001351037 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001364109 ⟹ NP_001351038 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_004061 ⟹ NP_004052 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047416602 ⟹ XP_047272558 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054351385 ⟹ XP_054207360 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001304156 | (Get FASTA) | NCBI Sequence Viewer |
NP_001304157 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351033 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351034 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351035 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351036 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351037 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001351038 | (Get FASTA) | NCBI Sequence Viewer | |
NP_004052 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047272558 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054207360 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA35623 | (Get FASTA) | NCBI Sequence Viewer |
AAB48539 | (Get FASTA) | NCBI Sequence Viewer | |
AAH47608 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37328 | (Get FASTA) | NCBI Sequence Viewer | |
BAG52492 | (Get FASTA) | NCBI Sequence Viewer | |
BAH11982 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10734 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10735 | (Get FASTA) | NCBI Sequence Viewer | |
EAX10736 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000371689 | ||
ENSP00000371689.1 | |||
ENSP00000423577 | |||
ENSP00000423577.1 | |||
ENSP00000428786 | |||
ENSP00000428786.1 | |||
GenBank Protein | P55289 | (Get FASTA) | NCBI Sequence Viewer |
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) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P55289-F1-model_v2 | AlphaFold | P55289 | 1-794 | view protein structure |
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: |
|
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: |
|
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 |
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 |