Special

HsaINT0041218 @ hg38

Intron Retention

Gene
Description
carnitine O-acetyltransferase [Source:HGNC Symbol;Acc:HGNC:2342]
Coordinates
chr9:129098531-129099966:-
Coord C1 exon
chr9:129099866-129099966
Coord A exon
chr9:129098651-129099865
Coord C2 exon
chr9:129098531-129098650
Length
1215 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
AGGCCCCGTTTACTGTGCAGGAA
3' ss Score
6.54
Exon sequences
Seq C1 exon
TTCATCGTGGCAGAAGATGGCTCCTGTGGGCTTGTGTACGAGCATGCTGCAGCGGAGGGGCCCCCTATTGTCACCCTTCTGGACTATGTCATCGAGTACAC
Seq A exon
GTGAGTACAGTCACATCTCTCGCCTAGTTCCCCAGCTTCTAGTGACAGGTGACACACAGGTGATAGACCAGCTTATAGAGAAATATCACTCTCCTTTGTGCCTGGGAATCTGTTTTTTTCCAAGGAAGCCAGCCAGATATGGTGGCTCACGCCTGTAATCCTGACACTTTGGGAGGCTGAGGTGGGAGGATCAATTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAATGCCATCTCTACTAAAAATACAAAAAAAAAAAAAATTACCCAGGTGTGGTATCACATGCCTATAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCGTTGAGCGGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTAGGCCAGGTGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAATTAGCCAGGCATGATGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCATTGCACTCTAGCCTGGGTGACAGAATGAGACTCTGTTTCAAAAAAAAAAAAAAAAAAGTTAGCCACGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAAGAGGCTAAGGCACAAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTTCCATTGCTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAGAAAAAGAAAAAAATTAGCCAAGGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCCAAGGTTGCAGTGAGCTGAGATCACATCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTAAAAAAAAAAAAAAAAGAAAAAAGAAAAAAAAGCTGAAGTGAGGGTGGTTTTCAGAACAAACTCACACCTCCCTGGGCTGGCCCCCTCCAGCTTCAGGTACCCATCCTCCCCACCCTGGTCCCAGAATGGACCCAGGCTCTAGAGGCACCAGCATGAGCCTGAGGCCCCGTTTACTGTGCAG
Seq C2 exon
GAAGAAACCCGAGCTTGTGCGGTCTCCCCTGGTGCCCCTGCCCATGCCCAAGAAGCTGCGGTTCAACATCACCCCCGAGATCAAGAGCGACATCGAGAAGGCCAAGCAGAACCTCAGCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000095321:ENST00000318080:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0075515=Carn_acyltransf=FE(5.7=100)
A:
NA
C2:
PF0075515=Carn_acyltransf=FE(6.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCATCGTGGCAGAAGATGG
R:
GAGGTTCTGCTTGGCCTTCTC
Band lengths:
216-1431
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