Special

HsaINT0040373 @ hg38

Intron Retention

Gene
Description
COX19, cytochrome c oxidase assembly factor [Source:HGNC Symbol;Acc:HGNC:28074]
Coordinates
chr7:966075-973292:-
Coord C1 exon
chr7:973181-973292
Coord A exon
chr7:969457-973180
Coord C2 exon
chr7:966075-969456
Length
3724 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
3' ss Seq
GCTTTCTCTTTTTCTTTTAGAAA
3' ss Score
10.94
Exon sequences
Seq C1 exon
GTGAATGTAAAAGCTTTAAAGAGAAATTCATGAAGTGTCTTCATAACAATAATTTTGAAAATGCTTTGTGCAGAAAGGAATCAAAAGAATATTTAGAATGCAGGATGGAGAG
Seq A exon
GTGAGTACAGCTAAGCGTTATGATTTCCACCTCCCACTACTCCAATTAAAACTTTTTTTTTCCTGAAAGGCCATTACAGTGTGTCTTTTTCAGGCCTGGGATTCAGCTTGTGTTTTTCAGGACTGTGGAATTGTTTGCCCTTGAAATGGAGGCTTATCAGATGAAATTGTACCAAAAGCTGTTTCACAATCTTGGGAACCTCTTCTTGAGCGATAGCGTTATACATGATTGCATTCCTGAGAGCATTTTCTTTCCACATTTGGTTGCTACCGACCTGTCATTAAGGTTTCCAAATCGTGCATCATAATGCTGACTGAGTCAAAAGACCGAAGGTCGTGGGTACACAGTTTCTTTCTTTTGCATTCTCAGATGTTAAAAATATGCACTGGGTTGTTTTGCTCCACTTTGAGTTGTTGGGAATGTGACAGGGAGGACAATAGACTATTTAAGAAATGATGAAAGATGAATGATTCTTCCTGTCGTAACCAGAACTCACCAACGCTCACTTTTAAACAAAACAAACGCGTTCGTAGCTATGATCCCCACAGCTTTTACTTAAAATAAGAGCTATTCTAATCCCTTATGCAAAAAAAAGCATGTAGCATATAATTATATGATGGTAGTGGGAGCTTTTATTTTTGCTTTTCGAGGCCATGATTAGCTCACTAAGCATTTCGGTCTTCAGACAGCTGTGTCTGTGCTGAAGACAGGTTGACAATTCGCCCATCCACTTTGAGCTCTTTTCATGTTCCCATAACATACTCAGACATTTCCCTCAAGGCAAAAATCCGTTGTGCCTTTCCGGCCACACAGGTGTGTTCGGGGTTATTCGTGTGGACATTTGGGGCCGTAAGGATGATGGGCCTTCTCAGCGGTGTGGACTTCAGTGAGGCCACGTTCTGCCTTTGGGGCTGTCGCTTAGGCTCTTCCAGGGCTCACATTTGTCCAAGGGCCACACTGAATCTGTCTCTTACCATCTCTGATTGTTTAAGTAGCACGCTGGCTGGAGCCACGTGTTTAAATTAGTCTTAAATTAATGCATCTTTAGAAAACTGGAACTGAGAATTTCTCCATGGCGCTGCCAAGCTTTAGAGACGGTGTGAATTGAGCTGTGTTCATGTGAGGGTGTGAGCAGGCCTCCTGCCTCATGCTCAGCTTCCCCTTGAGACTCCCGAGGACAGCTGGGAGGAAGGGAGCCAGGGCCAGTGCCTCAGGTGGTCTCGCAGATTGGCCAGGCAATGTTTAGGCAAATGTTCAGGGCATGTGTTCTGATTTCATTGTTTTTTTATTTTTATTTTTATTATTTTTTTGAGACGGAGTCTCACTCTGTCGCCTGGGCTGGAGCGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACCCCATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCTTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTGGATCTCCTGACCTCATGGTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTACGCCCAGGCTTTTGTTGTTTTTTGTTTTTGTTGTTTTTTTTTTCTTTTTAAAAATTCTGCTCTTTCTATAAGGTCAGTTATTTTGACCGTAGAATTTCGATTGGTTATTTGTTCATGAAAATCATCAAACATACAGAAGTTGAGGAGTCTACCTCCCATAACCGGCACCCACCCTGTTTTTAGCCATTTCTTTTCTTCCTTTTTCCTTCTGTGCTAAAATCCTAGACATTACTTTACTCCAACCTCCGTGTGTGTCTGTTTTAGAAAATGGACCACAATGGAGTTTTTAAAGTTGTCTCTTGAGGACTTGGACCATGTTTGCCTGATGTGAAAATATAGGTGTGTTTCAGATGACCACCGTGGTCTGAGATCTCAAGCCTCTGCAGTGATTTAGAAGTTCGCGTCCTGTCCTGGGGATTAGTTTTAGGCACCGGGTGTCACACAGACACGCTGGTGGAGCAGCCTCACCCGCTGCCAGCAGCACAGAGTGTGTGGGGGCCTCATGGGATGATGGCTGGGCCTCCTGGCTGGGTTGTGGGGAGGGTAAAGGAGGCCATCCCTGTAAAGCACGCAGCAGGATCGGGGGGCATGTCACCATGTGTGAGTTCACATGATAGTAACTATTGTCCTGAAGAGTGTGGGGCCCATAAAGAGTCATGCTGAGTCGTGAATTTCACGCCTCTAAGATGGCTGCACTGCGATAAACAGCTGGGAATTATTTTGGCAAGAAGTGGTGGCTCACATCTGTAGCCCCAGCACTTTGGGAGGCCAAGCAGGAGAATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAAACCCTATATCTACAAAAAATTTCTTTAAAAATTAGCTGGCTGGGTGCAGTGGCTCACGCCCGTAATTCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGACGAGCATGGTGAGACCCCATCTCTACTAAAAATATAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTGCCTGAACCCGGGAGGTGGAGGTTGTAGTGAGCCGAGATCATGCCGCTGCACTCCAGCCTGGGCAACAGAGTAGGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCTGGCCGGGCAGTGTGGCTCATGCATGTAATCCCAGCACTTTTGGAGACCAAGGTGGGTAATCACATGAGGTCAGGAGTTCGAGACCAGCCTGACCCATATGGTTAGACACCGTCTCTACTAAAACTACAAGAATTAGCCGGGCGTGGTGATGTGCACCTGTACTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACCTGGACCTGGGAGGCGGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAATAGAGCGAGACTGTTTCTGGGAGAAAAAAAGAAATTAGCCACGCATGGTGGCATACACCTGCAGTCTCAGCTACCCAGGAGGCTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGCAGTGAACTTGAACCGCTGATCACACCACTGCATCCCAGCATGGGAGACAAAATGAGACCCTGTCTCTTAAAAAAAAAAAAAAAAAAAAAAATATCAGATAACTGTCGACCTGAGTCTCAGTTCCATCTGGGTGGATGGCAGCCTGAGGTCTCCTCTGCCAGGGTGCCGTGGACAGTGGCAGGCACAGGTTCCAGGGATTAGGGCGTGAACACCTTTAGGGGTCATTATCCTGCCAATCAAAGCAAGTCTGAGAGGTCAGCGTGAAGCTGTTGTCCAGATACATCTTTTAGCAGGACGTGGGGAAGTGTTGTGTGCTGGGGGCAGCGGGTGCAGCTGCCCCTCTTGGACATCCCAAGAGGCCCCAGGCCTTAGGCCCTGGGACGTCTCTAGGTGGTCATGTCCTCATTGTCCTGTTGACTCTGCCCAGTGGGGAAGGCACCAGCCACGGGGGCCGAGGCCGAGGGGCCACTCTCCCAGGACATAGATGGAGGTGGCAGGACCCCCGGTGTGCGCTGGGAAGCCGGGGCCTGCAAGGGCCCCTCTTGTCCTCTCTGCACCTCCCGCCCTGACAGCTTTCTCTTTTTCTTTTAG
Seq C2 exon
AAAATTGATGCTACAAGAACCATTGGAGAAACTGGGATTTGGAGACTTGACTAGTGGAAAATCAGAGGCAAAAAAATGAATTTTGATGAGAAGACCCCTGGGCCGTGTTCAGTGGTCTCTCAGGACGGAGGGCATCATCCTGCCTCTTAGGTTGGCTGAGGCCTGCGTGTGGTGTCCTTAGAAATGGGCTTCGAATAGAAGCTCCAGCCCTGTGGGGGCGTCTCCTGGGTAGGGAGTGGCGTCCCGTTTTCCCTTAGGAGGGTGTTTCTGCATTGAACCCCTGAGTGGGACGGCGTTCCCGGCAAAGCTGGGAGGGAGGCGAGCGTGGGGCAAGACCCTTGTCTTCGAGGCCGGGGCCCTCTTGTATGGGGCGGTTTTATGTTGCAGTCCTCTGATACTTTCTGAGTTCAAAGAGGTAAATGTATAAATTTCAGTCCCTTCTGAACACAGATATCATCAGAAAATTACCATTCCCTAGCAGGATGTTTTCGTGTTTGTATTCGTATATGCCAGTTCATTTCCTTTGAAAAAAAAAAAAAGTGGAACACAAAGTAGGAAGTGAGAACCTTCTGGCTTTGGATGGATTGACTTCTTGATTCTTTCTGGTTTTGCCTGAACACCAAGTAGCTTCATAATCAAAGGGTCATTTTCTGGTTTGTATCAGACCGTATTTATAAAGTTGGGTATTTAATTTCAGTAACTCCTGTATTTTAACAGAAAAAGAACCTGAGTCCATTTGCAGTTAGGCTCGCACCAGCTGTCTTCTGTGCCAGCCAGCTCCGCCCGAGACCCCGGCACGTGTTCGCAGCACAGCCTGGCAGGGGCCCTGAGCGGAGTTCTCAGCCCGTCTGTGCCAAAGTTGCCTGTGGGTCACGGAAACCCGGCCCATGTCCACCCAGTGCGTCAGGCCAGCCGGGGCCCAAACCTGTGGATGGAACGCAGGTGCCTGCACATCTGGGGCCTCAGCCAGACCTGTCTCCTTCCCAGGCACTGTCGGAAAGGGGCTGGCTCCTGTCTGGTCAGTGGAGGATGGTGGCAGGAGACGGGGTGGGGAGGTCCAGGTCACGTCCTCTCTGGCGACCCTGGCAGTGGCTGTCTCCAAGCCCTGGCAGGTGGGGCCACCAATCTGGCCGACCTCAGGCTCTGGGAAACAGGCTGCCCTCGTCCCTCTGCCTGTGGGTGGCTGAGGCTTCTCAGCCCATCTCCAGTTCTCTGCAGCAAAGGCCCTCTGTTTCTGTCCTGCAGTGGTGGCCCTTTCGTGGTTAAACATGTCCCTCCCCTCCTCACAGAACTGAGTACCTATTGCGGCTGGGCCCGCCCAACCCTGTGTCCCTGCACCCATGGGTTCTACCACCTGATTCGGCTGCAGCTGTCACTGTCCCGTGTCTGCTCTCTGTCAGGCCTCTGAGTGCTGCAGACGTATTAACATATCACCGCTAGTTGATGGAAAGTCTTGTTTCTTATTAGAATATTTTGTGTAGGCACAGGGTTGCCCCAGCACTGTCTATAGCAACCCCAGTGTCCTCACAGTGCACGTGAGCCGTGACGCAGCCACCGTGGAGTCGGCGCTGACGCGGTGTGGCCACGTGCCATGAGCTCGCCAACGCAGTGCGGCTATATGGCGTGAGCTTACTGTGAAGTGGAGACAGGCAGGGACACAGGAAACTACAAACGAGAAATCCAGAAGGAGGAGCTGGAACTGATGGGCATAGCCGGCCGCGAGCCCCTCCGAGCACCCCTGGGGGTGGAGTTCTGGCTGTCATGGCAGAGGGTTTCACATGCTCAAAAAGTAAATGAACCAGGATGTGAGGGGAACACAACAGACCATGCCGACGGAGCTCCCGGGCCCAGGCCGGGGCCTCTTCCCATCGCACTCTGACCCGCCGTCGGGAGTGCCCAGGCCCGGGTCGGGCCTGCCTCTCCGCTCGCACCGCACTCTGACCCATCAGGAGTGTGGGGAAGACCGTCGACCAAAGGTGGGAAAGACAGGAAAGATACTGTACTCTAAGTAGTAAATTTGTTTTTTGCGTGGACGATTCTGAAGCTGTATTCTGAGATGGAAAAAACTAGAAATACATCGTGGATGATGAGAGCCAGGTGTATTGAGCTCCTGCTTTTCTAACGTACAAAGGTAACTGGATAGAGAAACGGAGTGATCGCCCTCACCTGGCCAGGGTGTGCTCCGAGACCCCAGCAGGTGCCGAAGCCGCGGATAGTCCCGAATCCTGTCCAGGCGCTGTTTTTTCCTGTACGTACCTGTGATCAAGTCTGAGATGTGACAGCAAAACTGACAGAACTTCGTGCTTCCCTCTTCAAAATGTCACAGATGGGCACTGTGTTCTTACCGGAGATCTTAGCAACCTCGGCATCTGGCTGTTTTTCTTATAGGTCAGGAGTTTCCACCTTTTCCCTTAAAGGAAGCGCTTGGCAGCTTCTCTGGTGTGTCTGAGTCGCCAGCATCACCACTGTCCTGTTCTGGGGCCATTCTTAAGTAAAATAAAAGCTTCTTGGACCCAAGCACCACATCACCGCGATGGCTGGTCTGATCACCGAGATGGCTGCTGAGTGCCTGGCAGGCAGGGTGGCGTGGATGGCCCGAAACGCTGGACGGAGGGAGGGTTGATGTCCCAGCAGGACGGCTGCTCAGAACAGCACAGAATCAAAAACTCATGAATGGTTTATTTCTGGAATTTTCCACTTAGTATTTTTGGACTGTGGCTGACCATGGGTAACTGAAACCGTGTGTAAGGGGGACTGTTGTGAGGGGCTGTGCACAAATGCTTCCCAGCTCTTGAGGGCCTGGACGCAGTGACCCGTGCACTCAGGGTCTTGGCCCTGATACCATTCTGTAACCAAAAGGAACCAGGGCCAGGCCAGAGAAGGTATCAGATGAGCTAGAGAGTGAAGAATTGCTGGGATGAGGAGACTTGTTGAAATAACACGGGGGGATGGGAAGGAGCATACGGTGGCCAGCCTGGGGCAGTGTGAGCGTGAAAATAAACAGGCTGGGCGCAGCGGCTCACGCCTGCAATCCCAGCACTTTAGGAGGCCAAGGTGGGAGGATCACTTGAGGCTAGGAGTTCAAGACCAGCCTGGGCAACATGGGTGAAACCCTGTCTCTACAAAACAAGAAAAGTCAGCCGTGCGTGGTGTCACCCGCCTGTAGTCCCAGATACTCAGGAAGCTGAGGCAGGAGGATCACTTGAGCCAGAGGTTAAGTCTGCAGTGAGCTGTGATTGTACCACTGCTCTCCAGCCTGAGCAACAGAGCCGGACCCTGTCTCACCAAAGGAAAAAAAAAAAAAAAAAAGAAAGAAAATTAATTATTGTAATGGGCTGTAGCCCTCAGAATAAATTGATATCCAGTAGTCTATACAACATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000240230:ENST00000344111:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.154
Domain overlap (PFAM):

C1:
PF067478=CHCH=WD(100=92.1)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
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