Special

HsaINT0037959 @ hg19

Intron Retention

Gene
ENSG00000111799 | COL12A1
Description
collagen, type XII, alpha 1 [Source:HGNC Symbol;Acc:2188]
Coordinates
chr6:75861847-75862198:-
Coord C1 exon
chr6:75862049-75862198
Coord A exon
chr6:75861967-75862048
Coord C2 exon
chr6:75861847-75861966
Length
82 bp
Sequences
Splice sites
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
3' ss Seq
TGCCAGTGGTGTCATTTTAGCTC
3' ss Score
4.34
Exon sequences
Seq C1 exon
GGATGGAGTGTCTCACCAGAGCTGAGGCAGACATTGTGTTGCTGGTGGATGGATCATGGAGCATCGGCCGGGCAAATTTTAGAACCGTGAGGAGTTTCATTTCTCGTATTGTGGAAGTCTTTGACATTGGCCCCAAAAGAGTACAAATTG
Seq A exon
GTAGGTTCTGACAACATTGGAGCCATTTAGACATTTTTATCTTTCTCTTTCACATGCACTAATGCCAGTGGTGTCATTTTAG
Seq C2 exon
CTCTTGCTCAGTATAGTGGGGATCCCAGAACAGAGTGGCAGTTAAATGCACACAGAGACAAGAAGAGCTTGTTGCAAGCTGTGGCAAACTTGCCGTACAAAGGAGGCAATACTCTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799-COL12A1:NM_004370:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.063
Domain overlap (PFAM):

C1:
PF0009223=VWA=PU(23.1=78.4)
A:
NA
C2:
PF0009223=VWA=PU(16.8=95.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCGGCCGGGCAAATTTTAGAA
R:
GTTTGCCACAGCTTGCAACAA
Band lengths:
176-258
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