Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CDIN1 | Human | congenital dyserythropoietic anemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CDIN1 | Human | congenital dyserythropoietic anemia | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
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 |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:12477932 | PMID:15489334 | PMID:16344560 | PMID:17207965 | PMID:17353931 | PMID:19913121 | PMID:20301759 | PMID:20628086 | PMID:21873635 | PMID:23716552 | PMID:24981860 | PMID:25281560 |
PMID:26496610 | PMID:28514442 | PMID:28986522 | PMID:29031773 | PMID:29049846 | PMID:29117863 | PMID:31191338 | PMID:32239177 | PMID:32293259 | PMID:32296183 | PMID:32518175 | PMID:33121234 |
PMID:33159567 | PMID:33961781 | PMID:34373451 | PMID:35563538 |
CDIN1 (Homo sapiens - human) |
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Cdin1 (Mus musculus - house mouse) |
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Cdin1 (Rattus norvegicus - Norway rat) |
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Cdin1 (Chinchilla lanigera - long-tailed chinchilla) |
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CDIN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CDIN1 (Canis lupus familiaris - dog) |
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Cdin1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CDIN1 (Sus scrofa - pig) |
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CDIN1 (Chlorocebus sabaeus - green monkey) |
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Cdin1 (Heterocephalus glaber - naked mole-rat) |
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Variants in CDIN1
89 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001130010.2(C15orf41):c.347-2652T>C | single nucleotide variant | Lung cancer [RCV000099468] | Chr15:36689033 [GRCh38] Chr15:36981234 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001130010.2(C15orf41):c.716+18124A>G | single nucleotide variant | Lung cancer [RCV000099469] | Chr15:36728085 [GRCh38] Chr15:37020286 [GRCh37] Chr15:15q14 |
uncertain significance |
GRCh38/hg38 15q14(chr15:34995451-39735062)x1 | copy number loss | See cases [RCV000050890] | Chr15:34995451..39735062 [GRCh38] Chr15:35287652..40027263 [GRCh37] Chr15:33074944..37814555 [NCBI36] Chr15:15q14 |
pathogenic |
GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 | copy number loss | See cases [RCV000051616] | Chr15:32326136..39394068 [GRCh38] Chr15:32618337..39686269 [GRCh37] Chr15:30405629..37473561 [NCBI36] Chr15:15q13.3-14 |
pathogenic |
GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 | copy number loss | See cases [RCV000051617] | Chr15:32635803..40233825 [GRCh38] Chr15:32928004..40526026 [GRCh37] Chr15:30715296..38313318 [NCBI36] Chr15:15q13.3-15.1 |
pathogenic |
GRCh38/hg38 15q14(chr15:34588015-39280404)x1 | copy number loss | See cases [RCV000051618] | Chr15:34588015..39280404 [GRCh38] Chr15:34880216..39572605 [GRCh37] Chr15:32667508..37359897 [NCBI36] Chr15:15q14 |
pathogenic |
GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 | copy number gain | See cases [RCV000052341] | Chr15:36531993..40787538 [GRCh38] Chr15:36824194..41079736 [GRCh37] Chr15:34611486..38867028 [NCBI36] Chr15:15q14-15.1 |
pathogenic |
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000083301] | Chr15:36697379 [GRCh38] Chr15:36989580 [GRCh37] Chr15:15q14 |
pathogenic|likely pathogenic |
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000083302] | Chr15:36657840 [GRCh38] Chr15:36950041 [GRCh37] Chr15:15q14 |
pathogenic|likely pathogenic |
NM_001321759.2(CDIN1):c.274-82T>A | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554615]|not provided [RCV001647438] | Chr15:36657751 [GRCh38] Chr15:36949952 [GRCh37] Chr15:15q14 |
benign |
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 | copy number loss | See cases [RCV000135953] | Chr15:23319714..38089582 [GRCh38] Chr15:22698522..38381783 [GRCh37] Chr15:20249886..36169075 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 | copy number gain | See cases [RCV000138530] | Chr15:23319714..38545325 [GRCh38] Chr15:22765628..38837526 [GRCh37] Chr15:20316992..36624818 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
GRCh38/hg38 15q14(chr15:36264417-38045964)x3 | copy number gain | See cases [RCV000142163] | Chr15:36264417..38045964 [GRCh38] Chr15:36556618..38338165 [GRCh37] Chr15:34343910..36125457 [NCBI36] Chr15:15q14 |
uncertain significance |
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 | copy number loss | See cases [RCV000143205] | Chr15:25033869..37204304 [GRCh38] Chr15:25279016..37496505 [GRCh37] Chr15:22830109..35283797 [NCBI36] Chr15:15q11.2-14 |
pathogenic |
NM_001321759.2(CDIN1):c.427-15C>G | single nucleotide variant | not provided [RCV002518603]|not specified [RCV000243855] | Chr15:36692111 [GRCh38] Chr15:36984312 [GRCh37] Chr15:15q14 |
benign|likely benign |
NM_001321759.2(CDIN1):c.148-19G>T | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554502]|not provided [RCV001711677]|not specified [RCV000242162] | Chr15:36645204 [GRCh38] Chr15:36937405 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.531C>T (p.Asn177=) | single nucleotide variant | not provided [RCV002229951]|not specified [RCV000246997] | Chr15:36697377 [GRCh38] Chr15:36989578 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554503]|not provided [RCV001725145]|not specified [RCV000247174] | Chr15:36654102 [GRCh38] Chr15:36946303 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.423T>C (p.Tyr141=) | single nucleotide variant | not provided [RCV001651153]|not specified [RCV000252130] | Chr15:36691761 [GRCh38] Chr15:36983962 [GRCh37] Chr15:15q14 |
benign |
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 | copy number loss | See cases [RCV000449139] | Chr15:24179003..37238599 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q14(chr15:36905047-40037396)x4 | copy number gain | See cases [RCV000448806] | Chr15:36905047..40037396 [GRCh37] Chr15:15q14 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant | complex | Spindle cell sarcoma [RCV000714282] | Chr15:34640169..42054561 [GRCh37] Chr15:15q14-15.1 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_001321759.2(CDIN1):c.611-255C>T | single nucleotide variant | not provided [RCV001690951] | Chr15:36709601 [GRCh38] Chr15:37001802 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.545-237G>T | single nucleotide variant | not provided [RCV001667001] | Chr15:36708986 [GRCh38] Chr15:37001187 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.477-55G>A | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554617]|not provided [RCV001638171] | Chr15:36697268 [GRCh38] Chr15:36989469 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000853478] | Chr15:36709934 [GRCh38] Chr15:37002135 [GRCh37] Chr15:15q14 |
likely pathogenic |
NM_001321759.2(CDIN1):c.45A>C (p.Leu15=) | single nucleotide variant | CDIN1-related disorder [RCV003970473]|not provided [RCV000919334] | Chr15:36579905 [GRCh38] Chr15:36872106 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.185C>T (p.Ser62Leu) | single nucleotide variant | CDIN1-related disorder [RCV003930560]|not provided [RCV000882050] | Chr15:36645260 [GRCh38] Chr15:36937461 [GRCh37] Chr15:15q14 |
likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 15q14(chr15:36834381-37066391)x3 | copy number gain | not provided [RCV000845726] | Chr15:36834381..37066391 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.180T>C (p.His60=) | single nucleotide variant | not provided [RCV000918872] | Chr15:36645255 [GRCh38] Chr15:36937456 [GRCh37] Chr15:15q14 |
likely benign |
GRCh37/hg19 15q14(chr15:34197488-38656254)x1 | copy number loss | not provided [RCV001006677] | Chr15:34197488..38656254 [GRCh37] Chr15:15q14 |
pathogenic |
NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000853476] | Chr15:36579919 [GRCh38] Chr15:36872120 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000853479] | Chr15:36709952 [GRCh38] Chr15:37002153 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.716+36850G>C | single nucleotide variant | not provided [RCV001616967] | Chr15:36746811 [GRCh38] Chr15:37039012 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.212+208TG[18] | microsatellite | not provided [RCV001611620] | Chr15:36645495..36645496 [GRCh38] Chr15:36937696..36937697 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.476+33T>C | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554616]|not provided [RCV001541135] | Chr15:36692208 [GRCh38] Chr15:36984409 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.716+36947C>G | single nucleotide variant | not provided [RCV001599052] | Chr15:36746908 [GRCh38] Chr15:37039109 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV000853477]|not provided [RCV003727833] | Chr15:36657840 [GRCh38] Chr15:36950041 [GRCh37] Chr15:15q14 |
likely pathogenic|uncertain significance |
NC_000015.10:g.36579414G>A | single nucleotide variant | not provided [RCV001718459] | Chr15:36579414 [GRCh38] Chr15:36871615 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.101+207T>C | single nucleotide variant | not provided [RCV001656043] | Chr15:36580168 [GRCh38] Chr15:36872369 [GRCh37] Chr15:15q14 |
benign |
NC_000015.10:g.36579408C>T | single nucleotide variant | not provided [RCV001715946] | Chr15:36579408 [GRCh38] Chr15:36871609 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.212+208TG[20] | microsatellite | not provided [RCV001677447] | Chr15:36645494..36645495 [GRCh38] Chr15:36937695..36937696 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.611-224A>G | single nucleotide variant | not provided [RCV001678148] | Chr15:36709632 [GRCh38] Chr15:37001833 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.212+118A>C | single nucleotide variant | not provided [RCV001598053] | Chr15:36645405 [GRCh38] Chr15:36937606 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.147+269C>T | single nucleotide variant | not provided [RCV001718456] | Chr15:36644592 [GRCh38] Chr15:36936793 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.611-170G>C | single nucleotide variant | not provided [RCV001686678] | Chr15:36709686 [GRCh38] Chr15:37001887 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.426+26A>G | single nucleotide variant | not provided [RCV001710141] | Chr15:36691790 [GRCh38] Chr15:36983991 [GRCh37] Chr15:15q14 |
benign |
NC_000015.10:g.36579272C>T | single nucleotide variant | not provided [RCV001541888] | Chr15:36579272 [GRCh38] Chr15:36871473 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.716+36711_716+36712insGC | insertion | not provided [RCV001708786] | Chr15:36746671..36746672 [GRCh38] Chr15:37038872..37038873 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.346+255A>T | single nucleotide variant | not provided [RCV001678688] | Chr15:36658160 [GRCh38] Chr15:36950361 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.273+82C>T | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554614]|not provided [RCV001528070] | Chr15:36654240 [GRCh38] Chr15:36946441 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.477-184del | deletion | not provided [RCV001725460] | Chr15:36697129 [GRCh38] Chr15:36989330 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.716+36816del | deletion | not provided [RCV001615651] | Chr15:36746753 [GRCh38] Chr15:37038954 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.213-123A>G | single nucleotide variant | not provided [RCV001609492] | Chr15:36653975 [GRCh38] Chr15:36946176 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.477-294G>T | single nucleotide variant | not provided [RCV001611837] | Chr15:36697029 [GRCh38] Chr15:36697029..36697030 [GRCh38] Chr15:36989230 [GRCh37] Chr15:36989230..36989231 [GRCh37] Chr15:15q14 |
benign |
NC_000015.9:g.(?_32964879)_(91358519_?)dup | duplication | Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] | Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
NM_001321759.2(CDIN1):c.46G>A (p.Val16Met) | single nucleotide variant | not provided [RCV001508754] | Chr15:36579906 [GRCh38] Chr15:36872107 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.716+36816dup | duplication | not provided [RCV001670484] | Chr15:36746752..36746753 [GRCh38] Chr15:37038953..37038954 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.213-146G>A | single nucleotide variant | not provided [RCV001671365] | Chr15:36653952 [GRCh38] Chr15:36946153 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.-105C>T | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV001554501]|not provided [RCV001538866] | Chr15:36579756 [GRCh38] Chr15:36871957 [GRCh37] Chr15:15q14 |
benign |
NC_000015.10:g.36579275G>T | single nucleotide variant | not provided [RCV001644063] | Chr15:36579275 [GRCh38] Chr15:36871476 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.716+37023A>C | single nucleotide variant | not provided [RCV001654750] | Chr15:36746984 [GRCh38] Chr15:37039185 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.610+256A>T | single nucleotide variant | not provided [RCV001698798] | Chr15:36709544 [GRCh38] Chr15:37001745 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.430A>G (p.Ile144Val) | single nucleotide variant | not provided [RCV001508755] | Chr15:36692129 [GRCh38] Chr15:36984330 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly) | single nucleotide variant | not provided [RCV001757013] | Chr15:36579886 [GRCh38] Chr15:36872087 [GRCh37] Chr15:15q14 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001321759.2(CDIN1):c.723del (p.Pro242fs) | deletion | not provided [RCV001772553] | Chr15:36808328 [GRCh38] Chr15:37100529 [GRCh37] Chr15:15q14 |
uncertain significance |
GRCh37/hg19 15q14(chr15:36852134-37429248) | copy number gain | not specified [RCV002052461] | Chr15:36852134..37429248 [GRCh37] Chr15:15q14 |
uncertain significance |
GRCh37/hg19 15q14(chr15:33809650-40027263)x1 | copy number loss | 15q14 microdeletion syndrome [RCV002279741] | Chr15:33809650..40027263 [GRCh37] Chr15:15q14 |
pathogenic |
NM_001321759.2(CDIN1):c.401G>T (p.Gly134Val) | single nucleotide variant | not provided [RCV002967775] | Chr15:36691739 [GRCh38] Chr15:36983940 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.838A>G (p.Ile280Val) | single nucleotide variant | not provided [RCV002996496] | Chr15:36808445 [GRCh38] Chr15:37100646 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.545-4G>A | single nucleotide variant | not provided [RCV002866109] | Chr15:36709219 [GRCh38] Chr15:37001420 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV003146696]|not provided [RCV002970710] | Chr15:36579958 [GRCh38] Chr15:36872159 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.269A>G (p.Asn90Ser) | single nucleotide variant | not provided [RCV002755355] | Chr15:36654154 [GRCh38] Chr15:36946355 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.102-18T>G | single nucleotide variant | not provided [RCV002690110] | Chr15:36644260 [GRCh38] Chr15:36936461 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.740A>G (p.Tyr247Cys) | single nucleotide variant | not provided [RCV002735297] | Chr15:36808347 [GRCh38] Chr15:37100548 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.607G>T (p.Val203Phe) | single nucleotide variant | not provided [RCV002979809] | Chr15:36709285 [GRCh38] Chr15:37001486 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.545-5T>C | single nucleotide variant | not provided [RCV002622051] | Chr15:36709218 [GRCh38] Chr15:37001419 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.522A>G (p.Leu174=) | single nucleotide variant | not provided [RCV002976493] | Chr15:36697368 [GRCh38] Chr15:36989569 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.426+20A>G | single nucleotide variant | not provided [RCV002781390] | Chr15:36691784 [GRCh38] Chr15:36983985 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.477-15dup | duplication | not provided [RCV002872745] | Chr15:36697306..36697307 [GRCh38] Chr15:36989507..36989508 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.476+13A>T | single nucleotide variant | not provided [RCV002711317] | Chr15:36692188 [GRCh38] Chr15:36984389 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.439G>A (p.Asp147Asn) | single nucleotide variant | not provided [RCV002596134] | Chr15:36692138 [GRCh38] Chr15:36984339 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.112G>C (p.Ala38Pro) | single nucleotide variant | not provided [RCV002572805] | Chr15:36644288 [GRCh38] Chr15:36936489 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.775C>T (p.Arg259Trp) | single nucleotide variant | not provided [RCV002602852] | Chr15:36808382 [GRCh38] Chr15:37100583 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.176A>G (p.His59Arg) | single nucleotide variant | not provided [RCV002745923] | Chr15:36645251 [GRCh38] Chr15:36937452 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.776G>A (p.Arg259Gln) | single nucleotide variant | not provided [RCV003062206] | Chr15:36808383 [GRCh38] Chr15:37100584 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.101+17C>T | single nucleotide variant | not provided [RCV002832879] | Chr15:36579978 [GRCh38] Chr15:36872179 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.150A>G (p.Lys50=) | single nucleotide variant | not provided [RCV002675995] | Chr15:36645225 [GRCh38] Chr15:36937426 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.544+15C>T | single nucleotide variant | not provided [RCV002602005] | Chr15:36697405 [GRCh38] Chr15:36989606 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.560G>C (p.Arg187Pro) | single nucleotide variant | not provided [RCV002725914] | Chr15:36709238 [GRCh38] Chr15:37001439 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.477-20C>T | single nucleotide variant | not provided [RCV002943156] | Chr15:36697303 [GRCh38] Chr15:36989504 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV003143861]|not provided [RCV003328496] | Chr15:36808419 [GRCh38] Chr15:37100620 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.427-13T>C | single nucleotide variant | not provided [RCV003880529] | Chr15:36692113 [GRCh38] Chr15:36984314 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.307A>T (p.Ile103Leu) | single nucleotide variant | not provided [RCV003482480] | Chr15:36657866 [GRCh38] Chr15:36950067 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.333C>T (p.His111=) | single nucleotide variant | not provided [RCV003411141] | Chr15:36657892 [GRCh38] Chr15:36950093 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.476+20T>G | single nucleotide variant | not provided [RCV003661800] | Chr15:36692195 [GRCh38] Chr15:36984396 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.415C>G (p.Gln139Glu) | single nucleotide variant | not provided [RCV003547204] | Chr15:36691753 [GRCh38] Chr15:36983954 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV003492939] | Chr15:36657857 [GRCh38] Chr15:36950058 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.148-16G>T | single nucleotide variant | not provided [RCV003880186] | Chr15:36645207 [GRCh38] Chr15:36937408 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.248C>T (p.Pro83Leu) | single nucleotide variant | not provided [RCV003573833] | Chr15:36654133 [GRCh38] Chr15:36946334 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.610+16_610+17del | microsatellite | not provided [RCV003881527] | Chr15:36709302..36709303 [GRCh38] Chr15:37001503..37001504 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV003492938] | Chr15:36709865 [GRCh38] Chr15:37002066 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.610+15T>A | single nucleotide variant | not provided [RCV003855524] | Chr15:36709303 [GRCh38] Chr15:37001504 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.818T>C (p.Ile273Thr) | single nucleotide variant | not provided [RCV003726689] | Chr15:36808425 [GRCh38] Chr15:37100626 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.186G>A (p.Ser62=) | single nucleotide variant | not provided [RCV003717535] | Chr15:36645261 [GRCh38] Chr15:36937462 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.346+15T>C | single nucleotide variant | not provided [RCV003845510] | Chr15:36657920 [GRCh38] Chr15:36950121 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.148-8dup | duplication | not provided [RCV003821498] | Chr15:36645207..36645208 [GRCh38] Chr15:36937408..36937409 [GRCh37] Chr15:15q14 |
benign |
NM_001321759.2(CDIN1):c.260_263del (p.Asp87fs) | deletion | not provided [RCV003542779] | Chr15:36654145..36654148 [GRCh38] Chr15:36946346..36946349 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.147+17T>A | single nucleotide variant | not provided [RCV003821822] | Chr15:36644340 [GRCh38] Chr15:36936541 [GRCh37] Chr15:15q14 |
likely benign |
GRCh37/hg19 15q14(chr15:34990168-39236311)x1 | copy number loss | not specified [RCV003987101] | Chr15:34990168..39236311 [GRCh37] Chr15:15q14 |
pathogenic |
GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1 | copy number loss | not specified [RCV003987110] | Chr15:22836883..39108014 [GRCh37] Chr15:15q11.2-14 |
pathogenic |
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 | copy number gain | not specified [RCV003987108] | Chr15:22770421..50347130 [GRCh37] Chr15:15q11.2-21.2 |
pathogenic |
NM_001321759.2(CDIN1):c.545-15T>C | single nucleotide variant | not provided [RCV003712203] | Chr15:36709208 [GRCh38] Chr15:37001409 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.141G>A (p.Glu47=) | single nucleotide variant | not provided [RCV003843309] | Chr15:36644317 [GRCh38] Chr15:36936518 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.610+8C>G | single nucleotide variant | not provided [RCV003729921] | Chr15:36709296 [GRCh38] Chr15:37001497 [GRCh37] Chr15:15q14 |
likely benign |
NM_001321759.2(CDIN1):c.155T>G (p.Ile52Ser) | single nucleotide variant | not provided [RCV003858710] | Chr15:36645230 [GRCh38] Chr15:36937431 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys) | single nucleotide variant | Congenital dyserythropoietic anemia type type 1B [RCV003990485] | Chr15:36645281 [GRCh38] Chr15:36937482 [GRCh37] Chr15:15q14 |
uncertain significance |
NM_001321759.2(CDIN1):c.334G>A (p.Glu112Lys) | single nucleotide variant | not specified [RCV004428288] | Chr15:36657893 [GRCh38] Chr15:36950094 [GRCh37] Chr15:15q14 |
uncertain significance |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
GATA50C03 |
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WI-18117 |
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SHGC-105791 |
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SHGC-109985 |
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SGC38378 |
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D15S1266 |
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WI-13895 |
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G17854 |
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HH114__6715 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
|
circulatory system
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ectoderm
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endocrine system
|
endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
|
sensory system
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visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2437 | 2788 | 2251 | 4969 | 1726 | 2351 | 5 | 622 | 1946 | 465 | 2269 | 7298 | 6465 | 52 | 3730 | 851 | 1742 | 1617 | 175 | 1 |
Ensembl Acc Id: | ENST00000338183 ⟹ ENSP00000342433 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000437989 ⟹ ENSP00000401362 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000562489 ⟹ ENSP00000454334 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000562877 ⟹ ENSP00000457854 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000563167 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000564586 ⟹ ENSP00000457227 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000565792 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000566621 ⟹ ENSP00000455397 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000566677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000566807 ⟹ ENSP00000454831 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000566932 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000567389 ⟹ ENSP00000456736 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000567573 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000569302 ⟹ ENSP00000456477 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000570265 ⟹ ENSP00000493669 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000642817 ⟹ ENSP00000495947 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000643612 ⟹ ENSP00000496325 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000643822 ⟹ ENSP00000493719 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000643837 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000646533 ⟹ ENSP00000494718 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000646657 ⟹ ENSP00000495542 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000647059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001130010 ⟹ NP_001123482 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001290232 ⟹ NP_001277161 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001290233 ⟹ NP_001277162 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321756 ⟹ NP_001308685 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321757 ⟹ NP_001308686 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321758 ⟹ NP_001308687 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321759 ⟹ NP_001308688 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321760 ⟹ NP_001308689 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001321761 ⟹ NP_001308690 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_032499 ⟹ NP_115888 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017022676 ⟹ XP_016878165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_017022677 ⟹ XP_016878166 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047433171 ⟹ XP_047289127 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433172 ⟹ XP_047289128 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433173 ⟹ XP_047289129 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433174 ⟹ XP_047289130 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433175 ⟹ XP_047289131 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047433176 ⟹ XP_047289132 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054378995 ⟹ XP_054234970 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054378996 ⟹ XP_054234971 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054378997 ⟹ XP_054234972 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054378998 ⟹ XP_054234973 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007064491 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_007064492 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489019 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489020 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489021 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489022 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489023 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XR_008489024 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NP_001123482 ⟸ NM_001130010 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B2RD87 (UniProtKB/Swiss-Prot), Q9Y2V0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_115888 ⟸ NM_032499 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9Y2V0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001277162 ⟸ NM_001290233 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A2R8YD89 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001277161 ⟸ NM_001290232 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9Y2V0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001308686 ⟸ NM_001321757 |
- Peptide Label: | isoform 4 |
- UniProtKB: | A0A2R8Y7J6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308690 ⟸ NM_001321761 |
- Peptide Label: | isoform 7 |
- UniProtKB: | H3BS01 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308688 ⟸ NM_001321759 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B2RD87 (UniProtKB/Swiss-Prot), Q9Y2V0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001308689 ⟸ NM_001321760 |
- Peptide Label: | isoform 6 |
- UniProtKB: | A0A2R8YEZ2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001308685 ⟸ NM_001321756 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9Y2V0 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001308687 ⟸ NM_001321758 |
- Peptide Label: | isoform 5 |
- Sequence: |
RefSeq Acc Id: | XP_016878165 ⟸ XM_017022676 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_016878166 ⟸ XM_017022677 |
- Peptide Label: | isoform X1 |
- Sequence: |
Ensembl Acc Id: | ENSP00000401362 ⟸ ENST00000437989 |
Ensembl Acc Id: | ENSP00000493669 ⟸ ENST00000570265 |
Ensembl Acc Id: | ENSP00000342433 ⟸ ENST00000338183 |
Ensembl Acc Id: | ENSP00000457854 ⟸ ENST00000562877 |
Ensembl Acc Id: | ENSP00000454334 ⟸ ENST00000562489 |
Ensembl Acc Id: | ENSP00000495947 ⟸ ENST00000642817 |
Ensembl Acc Id: | ENSP00000496325 ⟸ ENST00000643612 |
Ensembl Acc Id: | ENSP00000457227 ⟸ ENST00000564586 |
Ensembl Acc Id: | ENSP00000493719 ⟸ ENST00000643822 |
Ensembl Acc Id: | ENSP00000455397 ⟸ ENST00000566621 |
Ensembl Acc Id: | ENSP00000454831 ⟸ ENST00000566807 |
Ensembl Acc Id: | ENSP00000456736 ⟸ ENST00000567389 |
Ensembl Acc Id: | ENSP00000495542 ⟸ ENST00000646657 |
Ensembl Acc Id: | ENSP00000494718 ⟸ ENST00000646533 |
Ensembl Acc Id: | ENSP00000456477 ⟸ ENST00000569302 |
RefSeq Acc Id: | XP_047289130 ⟸ XM_047433174 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047289127 ⟸ XM_047433171 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_047289128 ⟸ XM_047433172 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047289129 ⟸ XM_047433173 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047289131 ⟸ XM_047433175 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_047289132 ⟸ XM_047433176 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A2R8Y7J6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054234972 ⟸ XM_054378997 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_054234970 ⟸ XM_054378995 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054234971 ⟸ XM_054378996 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054234973 ⟸ XM_054378998 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A2R8Y7J6 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9Y2V0-F1-model_v2 | AlphaFold | Q9Y2V0 | 1-281 | view protein structure |
RGD ID: | 7229023 | ||||||||
Promoter ID: | EPDNEW_H20257 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | C15orf41_2 | ||||||||
Description: | chromosome 15 open reading frame 41 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20256 EPDNEW_H20258 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7229027 | ||||||||
Promoter ID: | EPDNEW_H20258 | ||||||||
Type: | initiation region | ||||||||
Name: | C15orf41_1 | ||||||||
Description: | chromosome 15 open reading frame 41 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H20256 EPDNEW_H20257 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:26929 | AgrOrtholog |
COSMIC | CDIN1 | COSMIC |
Ensembl Genes | ENSG00000186073 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000338183.8 | UniProtKB/Swiss-Prot |
ENST00000437989 | ENTREZGENE | |
ENST00000437989.6 | UniProtKB/Swiss-Prot | |
ENST00000562489.1 | UniProtKB/TrEMBL | |
ENST00000562877 | ENTREZGENE | |
ENST00000562877.5 | UniProtKB/Swiss-Prot | |
ENST00000564586.5 | UniProtKB/TrEMBL | |
ENST00000566621 | ENTREZGENE | |
ENST00000566621.6 | UniProtKB/Swiss-Prot | |
ENST00000566807.5 | UniProtKB/TrEMBL | |
ENST00000567389 | ENTREZGENE | |
ENST00000567389.5 | UniProtKB/Swiss-Prot | |
ENST00000569302 | ENTREZGENE | |
ENST00000569302.6 | UniProtKB/TrEMBL | |
ENST00000570265 | ENTREZGENE | |
ENST00000570265.6 | UniProtKB/TrEMBL | |
ENST00000642817.1 | UniProtKB/TrEMBL | |
ENST00000643612 | ENTREZGENE | |
ENST00000643612.1 | UniProtKB/TrEMBL | |
ENST00000643822.1 | UniProtKB/TrEMBL | |
ENST00000646533 | ENTREZGENE | |
ENST00000646533.1 | UniProtKB/TrEMBL | |
ENST00000646657.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000186073 | GTEx |
HGNC ID | HGNC:26929 | ENTREZGENE |
Human Proteome Map | CDIN1 | Human Proteome Map |
InterPro | C15orf41 | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
KEGG Report | hsa:84529 | UniProtKB/Swiss-Prot |
NCBI Gene | 84529 | ENTREZGENE |
OMIM | 615626 | OMIM |
PANTHER | CDAN1-INTERACTING NUCLEASE 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR31661 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | TPD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA166352388 | PharmGKB |
UniProt | A0A2R8Y7J6 | ENTREZGENE, UniProtKB/TrEMBL |
A0A2R8YD89 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A2R8YDB2_HUMAN | UniProtKB/TrEMBL | |
A0A2R8YEF3_HUMAN | UniProtKB/TrEMBL | |
A0A2R8YEW7_HUMAN | UniProtKB/TrEMBL | |
A0A2R8YEZ2 | ENTREZGENE, UniProtKB/TrEMBL | |
B2RD87 | ENTREZGENE | |
CO041_HUMAN | UniProtKB/Swiss-Prot | |
H3BMD3_HUMAN | UniProtKB/TrEMBL | |
H3BNF9_HUMAN | UniProtKB/TrEMBL | |
H3BS01 | ENTREZGENE, UniProtKB/TrEMBL | |
H3BTL3_HUMAN | UniProtKB/TrEMBL | |
Q9Y2V0 | ENTREZGENE | |
UniProt Secondary | B2RD87 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2020-04-20 | CDIN1 | CDAN1 interacting nuclease 1 | C15orf41 | chromosome 15 open reading frame 41 | Symbol and/or name change | 19259463 | PROVISIONAL |