Special

HsaINT0038744 @ hg19

Intron Retention

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117029784-117031574:+
Coord C1 exon
chr9:117029784-117029837
Coord A exon
chr9:117029838-117031520
Coord C2 exon
chr9:117031521-117031574
Length
1683 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
TTTTGTTCGGCTTCTCCTAGGGT
3' ss Score
7.64
Exon sequences
Seq C1 exon
GGGCCGCCTGGTGCAGTGGGAGAACCGGGCCTTCCTGGGGAAGCCGGGATGAAG
Seq A exon
GTGAGGTGGGATGAAAGAAGAGAAAAATGACTTGTTGAAACCAGCTCCCAGATGGTGGCCACATCCTCTCCATGGAAGAGAAATGGGCCTTTCTTGTGGCTGGGATAATGGGTTCTCTGTGCTCCTGGCTGGGGAGTGGGGCCTGGTTAGGGCCAGAGTGGAATGTGGAGCCCCCACCAGTGCCCTCTGCGAGGTAATGTTTTTTCGGGCACCTGCCCCTGCCTCTATGCTGGGGTGGCTGTACCTCCTGGCCTCATGCGATACCATCTGCAGCTCGGTGCCAGTGCCCTTCATTACCTGCTGAGAAACAGGTGCCCATTGATACATGGACTCTGGGGAGAGCCCCCTCCCCATTCTGCTGTTGGAAGAGGACGCTGTTCCCCCTTGGAGGCCCCAGAGCTGATGAGTGATGCTGGCTAGCCCGTGGACATTGTTGAGGCAGGGCCCAGGGGAGCCCGCAGAGGGGCTGTGAGACTTGAGTCCAGTCACCCCCTTCCATGCCTAAGTCTCCCTGTCATTCAAAGAGGGAGTTGGACCAGGCCGGGGGCTGCCAGACTTGGCCTAGTCCCAAAATCCCTTGCTCAAACACCAATGAAGAAAACCACCCCACGTAGAAAACTGATAGAAGTGGGATTGTTTCCACTGGAGCAGGGCTGGGGGCTCAGAGCTCTGCCCTCCTCCTGTGCCCCTAGACACCAGCAGGGAGCATAGCTTGAAAATTCACCAATGAAGAAACCACCCCACGTAGAAAACTGATAGAAGTGGGATTGTTTCCACTGGAGCAGGGCTGGGGGCTCAGAGCTCTGCCCTCCTCCTGTGCCCCTAGACACCAGCAGGGAGCATAGCTTGAAAATTCTCCAATGAGAAAGACCCTTTTAGGGCCTTTATGCAGGGGGCAGGTGACATTTATTCCGGCTCATTTAGGGCTTCCTCCTCGTTTGGGTTTCTCTTCAAGTCTCTCAAGGAAGAATAAAGTCACATAATTGCCATTGCTGCATCCAAGGCTCCTGGAACCAGACTGCCCAGGTTCGGATCATGAATCTGTCACTGAATAGTCTCACGAGAGCTTGGGCTCCTTACCGAACTCCCCCAATGCCTCTGATGCTTCACCTCTAAAATAATGCCTTTCCTTGCAGGGCTGTCTTGAAAGTCAGATATGTTAATATAAAAACTGATGTCCTCAGCCTGGGCAACGTAGTGAGACCCCATCTCTACAAAAAATTTAAAAATCTGCCGGGCATGGTGGCGCATGCCTGTGGTCCCAGCTACTTGAGAGGCTAAGGTGGGAGGATCACTTGAGCCTGGGAGATCAAGGCTGCAGTGAGCTGTGATTACCCCACTGCACTCCAGTCTGGGCGACAGAATGAGACCCTGTTTCAAAAAACAAACAAAAAAAGTCCTTAGAACAGTACAGAACAGTACAGTTAGTTATTAATAGGATGATGGTGTTGGTGCTAATTGTCCTCCTGTCCTGGCGTGGGAGAAGAAGTCCGTGGACAAGGCTTACTTGGAACAGGAGCTCTGGTTGGTGTTTTACGATTTCTCTGTGGTCCCTGGGAAGAAGGACCTTCCCCAGCTCCTCCTCCCACACCCCAAAGTCAGAGCTGGTGGAAACAGGAAGGGGTGTCGAGAGCTGGGGCTGGCCCTACCCACCCGCAAGGACTTTTGTTCGGCTTCTCCTAG
Seq C2 exon
GGTGACCTTGGACCCCTGGGCACTCCTGGGGAGCAGGGCCTCATTGGGCAACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-COL27A1:NM_032888:34
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.991 A=NA C2=0.912
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(20.5=100)
A:
NA
C2:
PF0139113=Collagen=FE(20.5=100),PF0139113=Collagen=PU(19.2=83.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development