Special

HsaINT0037960 @ hg19

Intron Retention

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75861583-75861966:-
Coord C1 exon
chr6:75861847-75861966
Coord A exon
chr6:75861748-75861846
Coord C2 exon
chr6:75861583-75861747
Length
99 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TCTTTTAAAAATCCCACTAGGCA
3' ss Score
6.14
Exon sequences
Seq C1 exon
CTCTTGCTCAGTATAGTGGGGATCCCAGAACAGAGTGGCAGTTAAATGCACACAGAGACAAGAAGAGCTTGTTGCAAGCTGTGGCAAACTTGCCGTACAAAGGAGGCAATACTCTCACAG
Seq A exon
GTGAGTAAGGACTGTCTGACAGTCTTTCAGCTCATGCTTCTGGTTAAGGTTTGTGGCTGAATGGTGATGTGACTGATTCTCTTTTAAAAATCCCACTAG
Seq C2 exon
GCATGGCTTTGAATTTCATTCGCCAACAGAACTTCAGGACCCAAGCTGGCATGAGACCTCGAGCTCGAAAAATTGGTGTGCTCATTACTGATGGAAAATCACAAGACGATGTTGAAGCACCTTCAAAGAAACTCAAGGATGAGGGAGTGGAGCTGTTTGCTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-COL12A1:NM_004370:19
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.063 A=NA C2=0.089
Domain overlap (PFAM):

C1:
PF0009223=VWA=PU(16.8=95.0)
A:
NA
C2:
PF0009223=VWA=FE(31.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGCCGTACAAAGGAGGCAA
R:
TCCACTCCCTCATCCTTGAGT
Band lengths:
183-282
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development