Special

HsaINT0003168 @ hg19

Intron Retention

Gene
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 (disopred):
  C1=0.079 A=NA C2=0.215
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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