HsaINT0098102 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39285604-39287562:+
Coord C1 exon
chr1:39285604-39285758
Coord A exon
chr1:39285759-39287285
Coord C2 exon
chr1:39287286-39287562
Length
1527 bp
Sequences
Splice sites
5' ss Seq
TAGGTGAGG
5' ss Score
7.65
3' ss Seq
TTTCTCTTCTTCCATTTCAGGGT
3' ss Score
13.05
Exon sequences
Seq C1 exon
GATGCTGCTCACCTGGAATCAGGACAACCGGTACAATGTGAGTCAGATGTCATTATGTACATTCAGGAGTGTGAAGGTCTCATCAGGCAGCTGCAGGTGGATCTCCAGATCCTGCGGGATGAGAATTACTACCAGCTAGAAGAGCTGGCTTTTAG
Seq A exon
GTGAGGAACAAGGGACTCAAATGGAGGGCTTGCTTGCTTACTGCTGAGGCTCATGGATCAAGAGTAGAGCAAGAGTCAGGCACTTAATCTTTTAACCTGGACATTTGAGGTCAGTGTCTCAATGGGGATACTACAGGTCTCTTGGGCAGGAATGTTTTGTCAGTAGAGGACAGTTTCCCCTTATTGCAGCTCCATCCCACTAAGTACCTATAGGATTACTTCAATCATTGTGGCCTTTTGTAACATCCCACATACTTTATTTTAATTAATCAAAGACAGGGTCTCACTTTCGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCTCACTGCAGCCTCGACTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCCTCCCAAGTAGCTAGGCCTATAAGTGCAGGCTGCCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATTTTGCCCAGGCTGATCTCAATCTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAACCACTATATCTGGCCCATTCTCATATATTTTAGAACGACCTGCAGGGTTGGGACACAACACAACTTCTGATTTAGAAACATTGGTGATCCATCACATTCTTTTTATAGGGGGGAAAATTGAGACCCACAGAAGATGAAAATTATGTAAAGTCATGTGGCTAGTTTTTTTTTTCCCCTTTTTTTTTTGAGATGGCATCTTGCTCTGTAGCCCAGGATGGAGTGCAGTGACACGATCTCGGCTCACTGCAACTTCTGCCTCCTGGGTCCAAGAAATTCTCTTGCCTCAGCCTCCGGAGTAGCTGGGAGTACAGGAGTGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAGGCTAGTTTTACAGAGCCAAGACTAGGACCCACATCTCTTGACCCCTAATCCATTGTTTATTATATTTGGGAGTTATATAAATAGTATTGTTAGCTTCCCTCCAGTTAACACTGTAATTTGGCATTTGTCTTAAAAACAATTCTGAACTAGATGAAGATGTTCATAATATCACCTTGTATTCATATAACACTTTCTAAACACTTTTCCTTCTATGATCTCATTTTTATTTTTATTTTTATTTTTATTTTTTTGAGACAAGGTCTTGCTCTGTCACCCAGGCTGGGACGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGAGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGTCTAGGCTGGCTCATTTTTATTTTTATCATATCTTTGTCAAATGGATAAGGAAGATTTTATTTTTAAAAACTATACTATAGATTTAAATCCTTTCCTTTTTTCTCTTCTTCCATTTCAG
Seq C2 exon
GGTCATGCGTCTTCAGGATGAGCTGGTCACCTTGCGTCTAGAGTGTACAAACCTGTACCGGAAGGGTCATTTCACTTCACTTGAATTGGTTCCACCCTCTACTTTAACCACCACTCATCTGAAAGCAGAACCCTTAACCAAGGCAACCCATTCTTCTTCTACCTCCTGGTTCCGAAAGCCTATGACTCGGGCTGAACTTGTGGCCATCAGCTCCTCTGAAGATGAAGGCAATCTCCGATTTGTGTATGAACTACTGTCTTGGGTAGAAGAGATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:13
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=0.085
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF139001=GVQW=PD(10.0=4.3),PF0043516=Spectrin=PU(13.7=14.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCTGCTCACCTGGAATCAG
R:
CAGCCCGAGTCATAGGCTTTC
Band lengths:
348-1875
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