HsaINT0003166 @ hg19
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69343799-69345240:-
Coord C1 exon
chr14:69345175-69345240
Coord A exon
chr14:69343958-69345174
Coord C2 exon
chr14:69343799-69343957
Length
1217 bp
Sequences
Splice sites
5' ss Seq
ATGGTAACG
5' ss Score
6.05
3' ss Seq
GGTTTGGCTGTTCCCTCCAGGGA
3' ss Score
7.11
Exon sequences
Seq C1 exon
AAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATG
Seq A exon
GTAACGTAAACCCCACCCTCTGTCTGCCCTGGTGAGAAGGCAGCCAGCTGGCGGGAGCAGCCAAGTCCCAGGAGTGGCAGGCTGGAGGCCCTCAGGCTAGGGGCTGCCCTCCCTGGAGGAGCCCCAGGGCCCATGTCCTTGGGGAAGATGGCTCCCTGAAAGCCGGCCCGGCCACGGGCGTGTGTGTATCCGGGAGGCCTGACCTCCTCGCCTCAATCTCTGTGCCACTTCATCTTCTGGTACTTCTCACTCCCACTGTGGACAGCTGGGCTGACCCTGAGGCTGGCAGGAAGGACTGGTGGTGTGGGACATCCCAGGTTTCGGGCTGGCATGCGTCACCTCACATGGAGCATGGAAACCGAGACTTCCACCTCTGTCCTGGCGGTGACTCTGGTTGGGCCTGCCGCCCCTCTGGATTGTCCCAGGCCGTCCCCCACCCCCCAACCTTCCTAGTCTGTCCCCCCTTGCACAGACATTCTGAGCAGAGCAGTCAGGTGACTCCTGAGCCATGGTGCCAAGTGCAGAGCCCACAGGCTGTCCAGCGCAGGGCATGGGCATGGGGCTAGGAGCAGTGAACCTGGGAGTAAATCCCAGCCCTGCCGTCATTAGTGTGTTACCTCAGGTGAAGTGGGGGAACCCTACAGGACTGTTACAAGGATTAAATGAAGGAATTTAAGTGTGTGCATGTATCTGGCATGTAGAAAATACAGTGTGGTGGGGAGAGAACAGATTCTAGAACCAGACTGCCTGAGTTCAAATCCCAGTTCTGCTGCTTCCTGGCTGTGTGACCCTGGGCAAATCACTTAGCCTGTCTGGGCTTCAGATTTCTCATCTGTACAATGAAGATAATAAAATACCTATCTTTATGGTTGTAGTAAGGATTAAATGAATTGAAATAAAGCTTTTAGATTAATACTTGATATGCTACATAGGTGTCAGCCATTGTTAATCATTGTTGTCATTATAGTTATTATCAACATGATTATTTGCTCTAAGAGGAACTCAGGCATCTGCAGGGTGTGGGGAACCCTGAGCTGGGTCTCCCCTGTTGGGTGTTGTGTCCCCATCATACCCTTAGGACAACCCAGGTTAGGTCAGGGGGATGTGCCCTTCTCTTCCAGCCATAGGCTGCTCTGAGCCCCCAGGGTCTTCAGTCCATATGAGATATTCCCAGCAGGCCATGGGCTGACAGGCCTGGGTTTGGCTGTTCCCTCCAG
Seq C2 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-ACTN1:NM_001130005:19
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.170 A=NA C2=0.079
Domain overlap (PFAM):
C1:
PF138331=EF-hand_8=PU(37.7=90.9)
A:
NA
C2:
PF052278=CHASE3=PD(8.4=16.7),PF0003627=EF-hand_1=WD(100=53.7),PF087265=EFhand_Ca_insen=PU(26.9=33.3)
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:
AAGACAGGCATGATGGACACG
R:
CTTGTCCCCAGCCAGGATCTT
Band lengths:
222-1439
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)