Special

HsaINT0038769 @ hg19

Intron Retention

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117066888-117068968:+
Coord C1 exon
chr9:117066888-117066953
Coord A exon
chr9:117066954-117068799
Coord C2 exon
chr9:117068800-117068968
Length
1846 bp
Sequences
Splice sites
5' ss Seq
GAGGTATCT
5' ss Score
7.27
3' ss Seq
CCACCCTCTCCTCGTGACAGAGT
3' ss Score
7.66
Exon sequences
Seq C1 exon
CAACAAGATGATCTTGGGGCAGCTTTCCAGACGTGGATGGACACCAGTGGAGCACTCAGGCCAGAG
Seq A exon
GTATCTCCAGGGGCTCTCCCCATGTGGGATCCCTTCCTGGGAGAAACGCAAATAGATAATGGCCCACATGTGGTCAGTGCCTTCCATGTGGCCTGCATGGAGCATTTCAGAGTCCTGGTCTTGGTGGCATCTCGCATCCACAAATGGGGGTTTGTACTGAAACTCAGAATGGGCAGTGAGTCCAAGGTCCCATGGCCAGTGCAGGCAGAGCAAGGCCAGAAACAGGCCCTGAACCCTTGAGCTTTCTCCGGAGGCCTCTCAGAGTCTCCAAGCTCTTGCTGGCTGGAGTCAGGGGGAGAAGCTTGCCTGGGCCCAGAGCCCGCAGCAGCTTCCCAGTGCTCATCCCCACGTTTCTTCAGGAGTAAGAAGCTCATGGTTAGCTCGTGGGGCTCTGCTAAGAACCTGCCCTGTGGTTAACTCAGCTGTAAGACTCCAGGCTGAGAAGGGAGTCCCATGTCCTCTAGTCCAGCCTCGGTCAGGAGCCCCCTTTGCAGCCTTGCCTCCTTCACATGACAGGGAACTTACTGCCCCCAGCTCAAACCTCCTATGAACATTTCGGTTTGTTCCCTGTGCTGGATGCTGAGACAGATGGATGGCCAGTCACAGCCTTGACTTTCAGAGGGCTCACAGTCTAGGGTGGAGGACAGCATGGATGAGCCCCTTACCATCTGTCCGGGGAGGTCAGTGGAAAGAGAGGGGAACACTCAGGATCCAGTGCGGCTGGAGAAGGGAAGCGTTTCCTTCCATCCCTAGAAGCCAGTGATGCCGCACAGGAGAGCGCTGACCTGCAACATCCTTAACATGATGAAGGAAAGTGGCTCCGTTTATCAAGCACCTCCTACCCACTCTGCATTGGCGGTAGAATAGAGGCTTATTTCTCGTGCACGTAAAAGTTAATTGGCTTGTTGATGAGAGACCTTGGCTACCTGCCAGGGGCTCTGCCCTCTTCCTCTCCCACACGTGGCTCCCAAGGTCACTCCACACCAGGGGGAGGCACCACCGGGGAAAGAGAGTGTAGAGAATTGTGCAGGAGGGTCTCTGGGCCAGGCCTCTATGGGGCTAGCATCGCTCCACTTCCATCCCGTTGGCTAGAGCACAAATAAGGCTGAAGATGTAGTCTGTCCAGGCAGAAGAAATGGATTGGGTGAGCGGCTGCTGGTCTCTGACACACGTTCACACATGCGTGCACACACACACGTGACCTCCGCCACCCCCAGTGGAAGGAGGGTTTATTTAGCTCTGATTTGTAGCTCTGGAAGCTGAGGCTTAAGGGAGAATTCTGGCCAGGGTAACCCTGAATGGCCGGCTGTTTAGCATCTGTGGTCCCCTCCTGCCCCCTAGTGGAGATCTGCTCCTTCTCTGAGCTGAAGTCCTCCTCCCAGCACTTGTGCCTGCTGGCCCCAGTCCCGTCTCCTGGTGCCTCACAGAGACCCTGGCTCCCACCCTAGGGGAGCCCAGTGGGGGCTGTGTGACCCCCAAGTCAGCTCCCCCCAGCACCTCCCCTTCCTCCACAGGCTCTTTGCAGATAGAGATTGGGCCGCTGCCGAGTGTCCCACGCACCCTCGCCTACCTCATTCACGGGGCTCTGCCTGTCCCATATCAGAGAACATGGTCTGACCCTGAGCTCTTTTCAAGCCTCTGAGCCATTGTGATAGCCTCTCCTCCTGCACTTTGTCCCTGGCCCGTTTTCTTGTCTGCAAAATAAAGAGAAACCCAACCCGTGCTCTAGCCATGACCGTGGAACCGAGATACCTCCCAGGTTGTGAGAACTGGGGGCTGTGGAGGCTTGAACCCCAGGCTGGACCAGGACCCTAAGGTCCCAATGACCACCCTCTCCTCGTGACAG
Seq C2 exon
AGTTACAGCTATCCAGACCGGCTGGTGCTGGACCAGGGAGGAGAGATCTTTAAAACCTTACACTACCTCAGCAACCTCATCCAGAGCATTAAGACGCCCCTGGGCACCAAAGAGAACCCCGCCCGGGTCTGCAGGGACCTCATGGACTGTGAGCAGAAGATGGTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-COL27A1:NM_032888:57
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.626 A=NA C2=0.123
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF0141013=COLFI=PU(39.1=47.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGATGATCTTGGGGCAGCTTT
R:
CATCCACCATCTTCTGCTCACA
Band lengths:
230-2076
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