HsaINT0003168 @ hg19
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin, alpha 1 [Source:HGNC Symbol;Acc:163]
Coordinates
chr14:69340840-69343957:-
Coord C1 exon
chr14:69343799-69343957
Coord A exon
chr14:69341735-69343798
Coord C2 exon
chr14:69340840-69341734
Length
2064 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
TGACCACTCTCTCCTCGCAGAAC
3' ss Score
12.1
Exon sequences
Seq C1 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
Seq A exon
GTGGGTGTCCTATGGGTGGGCACTGTGCTGGGGTGGCAGGCACTGGCTGGACTGTGATCTAAAGGGGTGAGAGCTGGAACATGAACTCCTCAACCGCCCCTTCTTCCAGGGTCCTTTGGCCTCTCCTTGTTTGCCACTTCTACTCATTTCTGTAATGTCTTGGGCTCAGCTAAGGTGTCAGGACACAGGATTAGTATAAGTGACCCTTCCAGGATCACTGCATGCCAGTGAGGGACTCCATAGCTGGGATGAAATGACGGGTGGCAGATGAGAATAGAGTGGTGTGGATGTGTGATCGGACTCTTGGAGTCCATCTGACAATCCCTGGGACTTCACCCTTGGTCTCATCCCGCGCATCGGCACGGACTATAATGGGAGCAGGAAGAGGGACTGTGGGACCCAGGAAGGAAGCATGTCTCTCGTGTTTTCTACCCTGAGCAGTGATCTACTCTGGGTTTCCCAGTCTCCCAAGTACCCTGCAACACTCCACCTGGCAGTGGATGGATGCAGGGGGTTGTCTCCATGGATGCCAGAGGCTCAGTCCAAGTCTCCACTGTTCTGAGATGGTCATTGGTAGACCTGGATGTTACCCAGAACCACAGCCATCTCCAGCCCAGGGACCTGAGGGGATCTGTAGAAGCCACAGATCCCTCGAATATTAGAGAAAAGACTCACAGAGCAGCCAGAAGAAATGGTGGGGGTGGGGTGGGGGCCTAGGGTCTGTGTTCTGTTCAGTAAAAGTCACAGTAAATCCTTATGCCATCCTTCCTTCAAAACTGAAAAGATTCAGGCCAGGCACAGTGGCTCACGCCTGTAATTCCAGTACTTTGGGAGGCTGAGGTGGATGGATCAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGGAAAACCTTGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGGCGTGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCCTGAAAATCGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTTAAAAAAAACCTTAAAGAATCAGTTAGCGAAGCAAAAGCCAATAGGGAGGGAATATAATTTCTGGAATGTCTGTCTATAAGGGAATAAAGGCTGAACCTACAAAGAAGTCCCTAAAGTTCTGATTTAAATACAAGAACAACGTTATTTGCATCATAGCACTTTGGAGCTGGAAGGATCCTCAAACCATTTAGTTGTAGTGGCTAATTTTGTAGAGGAGGAAAACTAGGGCCCAGCTAGGGGCCTGGTCTCCCAACTTTTGGCTTGACAGTGGCAGCTCTACCCTCCCTCAAACTGGTTCCCAGGGCACTCTGGCAGAGGTAGGGCATGGTGCAGGGCGACTACCTTGTGGGTCAGAGCCCCCAAATGAGCTCTCCTGGATCTTGAAGCTCCTAAAAGAAGCAGCTTCCAAGTAGACCTATCATGAGCAAACCTGGGAGAAGGTAGATACCCAGGCTGGAGCTGCTTGCATGGGGCAAGGCCCGCATTTCTGCAAAGCTGCTTAACATAGCCTGGCCATATTTGGGAAGCAGTGATGCCCAAACATGGATGGTGTTCTTAATCTGCTGGAGGGCTCATTAAAATTAGACTGTCTGTCCGAGGCGTCCAGAGAGCTCAGTTGAGTGCGTGTGGGGTCTCCCCAGGAACCTATACGCTCCACCAGAGTATCTGCTGATACTGCTCCAGCACGCAATTATTGCAGACTAGTGTGATTCAGAAGATGATTATAGGTGTAATTGGCACATGGAATTAGATTGGAAAGTGGCTTACAAAGTAGGTACTGAAGTGGAAAACCTGAGAGAATTTTAAAAATACATGTTGTGTATGCGGTATGTACATGTGTGGATATTTACGTCCGTACATCCTGTAGTTACAGGAGGGAGGCAAAATGCAAACGGCACATGCTGCCTTCACGCCGCCAGGCTTTGCGGCTGTGTCGGGCCGCGCCGCTTTACGGCTGCTGGACTTTGCGGCCTTCCTGACCACTCTCTCCTCGCAG
Seq C2 exon
AACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCGACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGGCGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCCATCTCCTGCCTGGGTTCGGTTTCAGCTCCCAGCCTCCACCCGGGTGAGCTGGGGCCCACGTGGCATCGATCCTCCCTGCCCGCGAAGTGACAGTTTACAAAATTATTTTCTGCAAAAAAGAAAAAAAAGTTACGTTAAAAACCAAAAAACTACATATTTTATTATAGAAAAAGTATTTTTTCTCCACCAGACAAATGGAAAAAAAGAGGAAAGATTAACTATTTGCACCGAAATGTCTTGTTTTGTTGCGACATAGGAAAATAACCAAGCACAAAGTTATATTCCATCCTTTTTACTGATTTTTTTTTCTTCTATCTGTTCCATCTGCTGTATTCATTTCTCCAATCTCATGTCCATTTTGGTGTGGGAGTCGGGGTAGGGGGTACTCTTGTCAAAAGGCACATTGGTGCATGTGTGTTTGCTAGCTCACTTGTCCATGAAAATATTTTATGATATTAAAGAAAATCTTTTGAAATGGCTGTTTTTTAAGGAAGAGAATTTATGTGGCTTCTCATTTTTAAATCCCCTCAGAGGTGTGACTAGTCTCTTTATCAGCACACACTTAAAAAATTTTTAATATTGTCTATTAAAAATAGGACAAACTTGGAGAGTATGGACAACTTTGATATTGCTTGGCACAGATGGTATTAAAAAAACCACACTCCTATGACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110-ACTN1:NM_001130005:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.005 A=NA C2=0.026
Domain overlap (PFAM):
C1:
PF052278=CHASE3=PD(8.4=16.7),PF0003627=EF-hand_1=WD(100=53.7),PF087265=EFhand_Ca_insen=PU(26.9=33.3)
A:
NA
C2:
PF087265=EFhand_Ca_insen=PD(70.1=88.7)
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:
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
- 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)