HsaINT0040372 @ hg38
Intron Retention
Gene
ENSG00000240230 | COX19
Description
COX19, cytochrome c oxidase assembly factor [Source:HGNC Symbol;Acc:HGNC:28074]
Coordinates
chr7:973181-975599:-
Coord C1 exon
chr7:975428-975599
Coord A exon
chr7:973293-975427
Coord C2 exon
chr7:973181-973292
Length
2135 bp
Sequences
Splice sites
5' ss Seq
TAGGTGAGC
5' ss Score
7.96
3' ss Seq
TGTTTTCTTTCTCGTTCTAGGTG
3' ss Score
13.37
Exon sequences
Seq C1 exon
GTGCTCGGCGCTCCCGGGGTGCCTGCTCGGCGCTCCGCCGGCCGCCCTGCGTACGCTCGCAAGGCGCTCGCAGACTCCGGAGTCGCCAACATGTCGACCGCCATGAATTTCGGGACCAAGAGCTTCCAGCCGCGGCCCCCGGACAAGGGCAGCTTCCCGCTGGATCACTTAG
Seq A exon
GTGAGCGGCGGAAGGTCGGCGGGCAGGGGTCTGCGATGGGGGGTCTGGGTCGCGGCCCAGCGCGGAGCCCTATGGGGTGCCGGCATCTAGCGCGGTGCAGGCGGGGAAACTGAGGCACGGCGGCCCGCCCCTCCGCCCCACCCAGCCCTGGGTCACTGCTGCGGCATGGACCCTGCAGGTGGGAGCTGGCAGGACCGTGGCCCCCGTGACGAGGGCAGCGACACCGACTCCTTGCGTCAGGCTTCCGGGTCTCCGGCTCCGCCCTGACTCACCCGGCGGGCTGTCTGTGCCCCGGGTTTGCAGAGCGGGGCATTCGGCGGCCACGAAGCCCGCAGCTGCAGCCGAGGCTTAGACGGTGCCTAGCGATGTCTGCTGCAAAGCTCAAAAGTGCTGCTGATCTCCCAGTGCTTCTGGCCGTATTCCGGTGGGGTTGCCTCCGTGGACATGAAGGCTTCGAAAAAGGATCTGTGGGCCGGGCGCGGTGGCTCATGCCTGTGATCCCAGCCCTTTGGGAGGCCGAGGTGGGCGGATCATTTAAGATCAGGAGTTCGAGACCAGCCTGCCCAACATGGGGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGATGTGGCTCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGAGACGGAGGTTGCAGTGAGCCGAGATCGGGCCACTGCACTGCAGCTTGGGCGACAGAGTGAGACAACGTCTCAAAAAAAAAAAGAAAGAAAAGAAAAGAAAAACGATCTGTGAATTACTGTTTCTTTCCCAACATTTTATTGTGACATTTTCAAATAGCAAAAATGAAAGAATTTTTACCCTGAACTCTCCTGTGACCATCACCTACATTGCACCTTAACCTCGTACTGGGCTGACTTTACCTCGTTGTGGGTTTTTTCCATTGTTGTTTTCAGCATGTTTATGAAGGAAACAAGTTTGGGTTTGATTGTTTTTGTTTTGAGACACGGTCTCACTCTGTTGCTTAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGAAGCCTCGGCCTCCTTCCTTTCTGGACTCAGGGGAGTCTCCCGTCTCATCCTCTAGAGTAGCTGGGACTATAGGTGTGCAGCGCCACACCCAGCTAATTTTTTTTTTTTTTTTTTTTTTAGAGATGGGGTTTCCCCATGTTGCCCAGGCTGGATTATTTATTTATTTATTTTTGAAATGGACTCTCACTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGACTCACTGCAACCTCCTCCTCCCGGGTTCAAGCGATTCTCCTGTCTCAGCCTCTAGAGTAGCTGGGACTATAGGTGTGCAACACCACACCCAGCTAATTATTATTGTTTTTTTATTTTTTATTTTAAAGATGGAGTTTCCCCATGTTGACCAGGCTGGATCATTTATTTATTTATTTTTGAAATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGACTCGCTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGACACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCAAGTTGGCCGAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCTGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGTGCCCAGCCTGGATTATTTTTAGGAGACAAGGTCTTGATCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCAAGCTCACTGCAGCCTCGAAATCCTTTGCTCAAGCGATCTTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACAGACGTGCGCCACACCTAGCTAACTTTTAAGGTTTTTTTTGGTAGAGATGGGGGTCTCACTGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGGTCAGGTGATCCTCTCAGAGTGCTGGGATTACAGGTGTGAACCACTGCGCCCGGCCTGAGGAAACAAGTTTTGAAAGGAAAAGCAGCGCAGCTCTTAAGGCTGTTGTGTGGTTGCATCACTTTTCACTCTGAAAAGAACATGCTGTTTTCTTTCTCGTTCTAG
Seq C2 exon
GTGAATGTAAAAGCTTTAAAGAGAAATTCATGAAGTGTCTTCATAACAATAATTTTGAAAATGCTTTGTGCAGAAAGGAATCAAAAGAATATTTAGAATGCAGGATGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000240230:ENST00000344111:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.562 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF067478=CHCH=WD(100=92.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Autistic and control brains
- Pre-implantation embryo development