Special

HsaINT0003217 @ hg19

Intron Retention

Gene
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39207726-39208714:+
Coord C1 exon
chr19:39207726-39207956
Coord A exon
chr19:39207957-39208566
Coord C2 exon
chr19:39208567-39208714
Length
610 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
3' ss Seq
CTGCTCCTGCCCTGCCCCAGGAC
3' ss Score
8.55
Exon sequences
Seq C1 exon
CTCCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCGACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCAGCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCG
Seq A exon
GTGAGCACCAGGATTCACATGGGAGCAGCTGTGAGGGGCAGAGGCAGCCCTAGAACTGCCTGTGGGCAGTTTGGCCAGCGTAATCTTTCCTAAGTTGTTGATGTCCTGTGGGACATGGCATGGCCTTTCGGATGCAGTGGTCGGGGAGGGGTGCACTTCACTCGGCATTGTGCTCCCCTTTGGCCCTCACTCACTGTATTTTACACCCAGGGTTTTATACGCATCCCAAATCCTTGCCACGGGTTGTGTGGGTGTGGAGTGGTGTGAATTTGGAGCCGTGGTCTGCCATGATGGCATGACCGCCATGTGCTTGAGGCCCTTCATCAGCGGAGGGGCAGTGCGCCCTGGACGGTACCACCTCCCCATCTATGGTATTCATCCATTCATTCATGCACTCACCCGTTCACGCATTCATTTTGTTAATCCAGAATTGATTGTACCTGCTGAGTGCTGGGGGGCCCTGTGTAGGCATCCAGGTATAATAGCAAAGCATGACACAGACATGACCCCAGCCAAGTTCTGCCACCTTCCCATCAGCATCCCTTGGAGACATCCCCCTGGGTGCCTCCACTTCCTTGTGATAGCCCTGCCTGCTCCTGCCCTGCCCCAG
Seq C2 exon
GACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAAGGGCTACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-ACTN4:NM_004924:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (disopred):
  C1=0.091 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF131021=Phage_int_SAM_5=PD(58.0=66.2),PF0043516=Spectrin=FE(85.4=100),PF0103115=Dynamin_M=PD(76.1=70.1)
A:
NA
C2:
PF0043516=Spectrin=PD(18.9=42.0),PF0043516=Spectrin=PU(17.0=36.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCCCTGGCTGGAGGAC
R:
CTCGTGGATGGAGGCCTTCT
Band lengths:
343-953
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