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AS locus structure map

HIX0006661: Malcavernin (Cerebral cavernous malformations 2 protein).
Chromosome: 7 Position: 45039364..45116069 (76.7Kbp) Strand: + Number of RASVs: 8
ORF: Full-length Truncated NMD UTR
Splice-site: GT-AG GC-AG AT-AC Other NAGNAG
AS: AS exon AS junction Polymorphism: SNP

Locus and transcript information


AS locus
Hyperlink management Corresponding other species locus
HIX0006661 11-0001246 (mouse_mrna)
HIX0006661 14-0000449 (rat_rna)
HIX0006661 07-0000245 (chimpanzee_rna)
HIX0006661 03-0000331 (macaque_rna)
HIX0006661 16-0000034 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000037706 CCM2 607929 Kidney, renal cell adenocarcinoma Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000297482 CCM2 607929 Fetal liver Similar to Malcavernin-like protein (Fragment).
HIT000022859 CCM2 607929 thymus Similar to Malcavernin-like protein (Fragment).
HIT000043933 CCM2 607929 synovial membrane tissue from rheumatioid Similar to Malcavernin-like protein (Fragment).
HIT000261117 CCM2 607929 Colon, adenocarcinoma Similar to Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000279927 CCM2 607929 Neuroblastoma Cot 25-normalized Similar to Malcavernin-like protein (Fragment).
HIT000283255 CCM2 607929 HeLa cells Cot 25-normalized Similar to Malcavernin-like protein (Fragment).
HIT000300826 CCM2 607929 Fetal liver Similar to Malcavernin-like protein (Fragment).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000032071 CCM2 607929 Brain, neuroblastoma Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000034028 CCM2 607929 Brain, neuroblastoma Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000278661 CCM2 607929 Placenta Cot 25-normalized Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000281428 CCM2 607929 Neuroblastoma Cot 25-normalized Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000286199 CCM2 607929 B cells (Ramos cell line) Cot 25-normalized Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000242948 CCM2 607929 Malcavernin (Cerebral cavernous malformations 2 protein).
HIT000298138 CCM2 607929 Placenta Cot 25-normalized Similar to Malcavernin-like protein (Fragment).

RefSeq
ID Definition
NM_031443 Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 2, mRNA.
NM_001029835 Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.

Ensembl
ID Definition
ENST00000258781 Malcavernin (Cerebral cavernous malformations 2 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q9BSQ5]
ENST00000381112 Malcavernin (Cerebral cavernous malformations 2 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q9BSQ5]
ENST00000436176 Malcavernin (Cerebral cavernous malformations 2 protein) [Source:UniProtKB/Swiss-Prot;Acc:Q9BSQ5]
 
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