HsaINT0003234 @ hg19
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39200897-39205201:+
Coord C1 exon
chr19:39200897-39200982
Coord A exon
chr19:39200983-39205108
Coord C2 exon
chr19:39205109-39205201
Length
4126 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCG
5' ss Score
9.67
3' ss Seq
GACTGTGTGCTCCCCTCCAGGCT
3' ss Score
9.47
Exon sequences
Seq C1 exon
ACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAG
Seq A exon
GTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTTGGTACTGTGACCTTGGGTGGGTCACTTGACCTCAGCTTCCCCACCTGTGAAATGGGCATCGCTGTAGTTCGGTCTCACAGGATTGTTCTGGGCGTGAAACGAGCTCCTGCAGGCAAAGGGCTTAGCACAGTGCCTGGCACGGCAGCTGCCATTTAGGCAGCTGCCAGGGAGCCACAGTGGTGGGGAGTGTGGTTCTTCCCAGCCTCGGGCCAGAAAGGCCTCTTCACCTCCTCAGCATGCGATTGGAGCTTGTGTTTGGAGTGTTCTGCTAGAGGGCACGGGCCAGGAGGGTGGAGGGAGGACCCCTGACCCACACTCCCGCGGGAGGGTGGGCAGGGACCAGCAGCAATGGACGATTCGTCACCACAGACCCCAACTAACAGCATGTTTGCCATTGGACTCACCCCTACGGGCCCCGAACCAGCCCCCTGCCCACCACATGGCCTCACCAGATTGCTTTTCTTTCTACCCACACTGCTCCCCTGTGCTTAGGGCTGAACTCCAGTCTGGAGGCTCTGAGGGATTTTGGGGGAGCAGGGACTGGCAGGCAAGCCCAGGACAGTATGGGTGGGTGCTGAGGCACTGGGCCTGGAGGCTTGTCACTGGCCCCTCTCTGAGGGGGTAGTGGAGGCCCGGCTGCAGGGCGCTGGCTGGTCAGAAAGGAAAGTGCTGGGTCCCTGTGTGCTCCTCAGGACAGCCCCGTGGTGCTGCTCCTGCTGCCTCGTTTCCCCAGAGACCCAGTCCAAGCTCTTGCAAGAGTGCTCTCTGGGGTTCATGTTTTATAAACGCAGAGTGAACCCCAGGTCTAGCGCCAGTGTGCCCATTCTGTCCTGAGATCATTTATTTCTAGTCACCGAAGCGTTCCCGCCTCGTTCCTTTATTCACTCACTCATTCAGCAACCCTGAACACCGCCAGTGCACTGAGCCCCAAGCTGGATGCGGGAACTCAGCGGTGAAACATGATTCCCTTGCCTTGCGGCAGCCCCGTGCTCACAGAGAGGACTTGAGTTTCGGGTGCCAGTTGTCTCTGCCAAGTTAGGAGTCAGGGACTGACCTCTGTGACCCCCACAAGCTGCAGCCCTGGCTGTGTTTTCCACACTGGCCTGGGGCCCATGTTCATTGGCTGAGGAACCTCTTGGACCTCATCTCTGAGGAGCACCGCCTGGGGCCCTGGGTGTGTGTCCCGCAGCATGGCGCGGGGTGTGCACGTGCGTGTGTGCGCTCACACGAGCACCGGCTGCCGCCTCCCCGCCTGTCTCCAGGTGCCATGTGTGGAGGGGAGAGGCTGGGCGTCGCTGCCTGCAGCACTGGCTCTGAGCCGTTGGCCAAGCCTCTCCATTTTCCTTCCCCATCACTCTGTAGACCCTCCTCACTCTTTCTGTTCCTGTTCTGTTGCCGTTTCAACTCCTCCTCTTGGACCCTTTCTGTGCTTCCTGAAAGGTACCTGGTCTCTCTCTCCCCGTGTGCACCCCCTGCCTCCTCTACACTGTTCACTGCCCCCTAGCAGGACAGGGCAGGACGCTCTCCTGTAGTTCAGGCCCAGGGACTATGTCCACCACTCTCACCCTCCAAAGCCCCAGCACTTTTCTGCCCCACGGATGGTGACTTCTGTCCTCTGGAGCTCCTATTAACATTGCCTCCAAGGCAGGAGAGTGGACAGGCCTGAGTGTGCTCCTGTGCACGGACCACTAGGCTCCTCCGGGACCCGGGCGCCCCTGCTCTGTTGCCCCCAGCTCTCCAGCTCTCGGCTTCCCATCCTTTCACCTTCCCACCGGGAGAGACTCCTCCGCAGTCTTAGGTCCAACGCAGCCGACCCGTCCAGCCTCACCCTCCTCTGTGTGGGGCACTAGAGGGTTTGCGAGCAGCAGTGGGAGGGCTCCCCAACCCTCCTCGGTGCCTCCAGGGTCTGGGCTTTCTGGACCCAGGGGCATTTTGCAGTCAGCAGTGAGGATGCCAACAAGGCCTATTGGGACAGGGCACCATCTCACTGGAGCTGTGCTTCCTCTCCTTCCCCTCTGTGAGGAGTTCCGTGGGCCATGGACCAGCTGCTTTCAAGGGACGTGCCCGTCAGGAGGGAGGGTGGCCAGCCCCCAGGCAGCCCTGACTGTGTGCTCCCCTCCAG
Seq C2 exon
GCTGAAACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402-ACTN4:NM_004924:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=NA C2=0.183
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF131021=Phage_int_SAM_5=FE(34.1=100),PF0043516=Spectrin=PU(12.4=35.5),PF0103115=Dynamin_M=PU(21.1=48.4)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)