HsaINT0003204 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66561458-66562168:+
Coord C1 exon
chr11:66561458-66561637
Coord A exon
chr11:66561638-66562021
Coord C2 exon
chr11:66562022-66562168
Length
384 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGA
5' ss Score
4.3
3' ss Seq
GCCTGTCCCCTGACCGCCAGCAC
3' ss Score
4.45
Exon sequences
Seq C1 exon
GAAGTGGGGCGGCTGGCAGCAGGGCTAGCTGGCTCTCTGGAGGAGCAGATGGCTGGGCTACGGCAGCAGGAGCAGAACATTATCAACTACAAGACTAACATTGACCGGCTGGAGGGTGACCACCAGCTGCTGCAGGAGAGCCTGGTGTTCGACAATAAGCACACCGTCTACAGCATGGAG
Seq A exon
GTGGGATCACACCCTCTCAGGAGAGTGGGGAGGCAGCACTGGCTGAGGAGGCCCAGGGAGATCACAGCTGGACAGAGCATGTGTGTCCCAGCAGAGTCCCCAGTTCAGCTTGGCCAGGTCCCTTAAGACCCAGCGATGGAAAGTGACCCTTCCAGAGTCACAAAGCCGTCCAAAACCAGGCCAAGATTGGCCATAGCTGGTTATCAAAAGACAGGAAGGACTGCTGGGGTGGGGGTGGGTTACTCAGTGGAGCCTCCAGATGGGGATGGAGGCCCAGTGAGGGGGAGGACTTGCCCAGGGTCATTCAGTGAACTGGATGTGGAGCTAGAGCCAGTGGCCAGGCACTGGCCGCCCACTGACAGTGGCCTGTCCCCTGACCGCCAG
Seq C2 exon
CACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.375 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(56.7=100)
A:
NA
C2:
PF0043516=Spectrin=PD(20.2=42.9),PF134991=EF-hand_7=PU(33.3=53.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGCAGCAGGGCTAGCT
R:
CAAAGTGGTTGAAGGATGCTCG
Band lengths:
310-694
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