HsaINT1042876 @ hg38
Intron Retention
Gene
ENSG00000163554 | SPTA1
Description
spectrin alpha, erythrocytic 1 [Source:HGNC Symbol;Acc:HGNC:11272]
Coordinates
chr1:158614253-158615403:-
Coord C1 exon
chr1:158615216-158615403
Coord A exon
chr1:158614307-158615215
Coord C2 exon
chr1:158614253-158614306
Length
909 bp
Sequences
Splice sites
5' ss Seq
CAAGTATTG
5' ss Score
-0.57
3' ss Seq
GTTTTTTTTTTTTCTTTCAGGGA
3' ss Score
12.46
Exon sequences
Seq C1 exon
AGAAAACAGAAGGAGATCCAGGCGATGAAGCGTCAACTAACCAAGATTGTGGACCTGGGGGACAACTTGGAAGACGCTCTGATCCTTGATATCAAATACAGCACCATTGGATTGGCTCAGCAGTGGGACCAGCTCTACCAGCTTGGGTTGCGGATGCAACACAACCTGGAGCAACAGATCCAGGCCAA
Seq A exon
GTATTGAGGGCGTGTGGCCAGAGCAGGGAGGGATGCAGGTGGTGTTAGGTGTTAGGACCTTAACTAAGGGCGAGAGTTTGGTGCACCAGATAAAAGAGTTGCTTCAGAGAACCAATATTCTGGGTCTTTACTGCCCCACGGAATGACTATTTCTCTTTATACTGAAATCCATCATGAAATAAAAGACAGTGCTCTCCATCCACCTGAGCCTACTCATCACCCACTTGGACAACAACTGACTTTTATACCCAATTTCTCAGAGTTCTTTCACCATCTTATGTGATCTCTTAGGAAACCATTCCCTTTCATAGAATTTTATCTAAAATGTAATGTCTAGATTAAAAGAAACATTTAAAGTGTGGCCAAATAGAGCAGAAGGGCAGAAACTCATTTTCTAGATAAATTCACTATATCAAAGCAGCTCTAGGTCTCAATAGCATTTTGGCAACATTTTTATCTAGATTAGGATTGGCAAACTTTTTCTGTAAATGGTCTGATAATAAATAATTTAACTTTGTAAGGCACATATATTTTCTGCTGTAACTCCTTGATTCTGCTGTTGTAGTGAAAAAAGCAGCTATGATAAGTGAATGACCGTGGCCATGTTCCAATAAAGCTTTATATATGGACATTGAAATTTAAATTTTATGTAATTTTCATGTTTCAAAAAATTTTCTTTTGATTGTCTTCAACCATATGAAAATGTAAAATCTACTCTTGGCTCATGGACTGTACAAAAGCAGGTGGCAGCCTAGATTTGGCCCATGGACTATAGTTTGCCAACTCTTGAACTAGATGACTCAAATAGCAAATTGTCCATTAAAATTCCTCTCTCTTCCATGTGGCTTGTGTTCTGCTAACCTGTGTTTCATATACAGGGAAAATTCATGTTTTTTTTTTTTCTTTCAG
Seq C2 exon
GGACATCAAAGGTGTGAGTGAAGAGACTCTAAAGGAATTTAGCACAATCTATAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163554:ENST00000368147:48
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(55.9=90.5)
A:
NA
C2:
PF134991=EF-hand_7=PU(14.9=57.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAAACAGAAGGAGATCCAGGC
R:
AGATTGTGCTAAATTCCTTTAGAGTC
Band lengths:
238-1147
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains