HsaINT1022330 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39436482-39438008:+
Coord C1 exon
chr1:39436482-39436490
Coord A exon
chr1:39436491-39437776
Coord C2 exon
chr1:39437777-39438008
Length
1286 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
3' ss Seq
ATGTTCCAACATTTGTTTAGTTT
3' ss Score
4.41
Exon sequences
Seq C1 exon
ATTACAGAG
Seq A exon
GTAAGGTACCCATCCCCATTGGGACTAGGGTGTTCTTATAATGCTGAAAATTGAGGTCATTACCTGTAAGGGAATTTCCCTTAACTTTAGTGGAATAAATTTAATTAGTGCAGTTTATTATGCCAGTTTCATTTGGGGTGGAACCTAGAAGTGAGAGAGTGATGGGAAGTGATGTTGTTAAGGAATCCCACCATGTTTTTTCTATAGGACACTTGAAATTGATAAGCCTTTCTTTAACTAAAACCAGAGTTGGTTTGAGATAGATTTTTCTTAGGAGGCATGCTTATCTGTTTTGCTCTTTTCTCTCCTCTCTGCATCAAATTTTAATGAGAACTTTTCAGTTGTAGTCATGTTATTCAAAGTAACAGAAAAGTGGGAAGGTAATAATTCTTCAAGAATAAGGTTAGATTTGGTCTTCCTTAATTACCTTTCATTATTCCAACGTTTTTTCTCTCTTATTGTTCCATAAGGTGGGTCGTTAAACTGCATGCCATGTTACTTTTAAACTACAAGTCGTGTAGCATATTAAGTTTCCCATCCATTTACACAGCTGGTGGAGGGCATCTAACTTGTTGGTCTAGTCTGTTGCATGCAACTGTCATCTCAGATGTTGACATACTGACTCTCAGCAGTTTCATAGTCTTGTCCCTTTTTTGTTACATTAGTTGGAATAGGAGAAATATTGTGGCAGCACTAAAGATTTGAATTGGTTTCTAGTATATTCATATATTTAGATTCTTAAAATAAATATTGGCTTTTTTTTTTTTTAATGGGCCAGCTCTGTATATGCCCAAAACAGTTTTGTTGTTGTTTTTTTCTTTTTCTTTTTTTTTTCTTTTAGACAAAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTGATTGTCATGCCTCAGCCTCCCTAGTAGCTGGGACTACGGGCGTGCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGGGACGGCGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACACACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACCCCTGGCCCAAAACAGTTTCTTAACCAAACTCAACACTTAATAGCCATTGGGCTAAACTGAGCACAGGTTATCCTAAACAGTAGTAGGATAATATCTTGTCCTTATTCCCTAACACTTCTCCAAGAAGAGTGATGAGGTATGCTGTGATGGTAATGTTCCAACATTTGTTTAG
Seq C2 exon
TTTCATGATAAAATTGAGCCTATGTTGGAGACACTGGAGAATCTTTCCTCTCGCCTGCGTATGCCACCACTGATCCCTGCTGAAGTAGACAAGATCAGAGAGTGCATCAGTGACAATAAGAGTGCCACCGTGGAGCTAGAAAAACTGCAGCCATCCTTTGAGGCCTTGAAGCGCCGTGGAGAGGAGCTTATTGGACGATCTCAGGGAGCAGACAAGGATCTGGCTGCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:65
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.116
Domain overlap (PFAM):
C1:
PF060097=Laminin_II=FE(1.9=100),PF0043516=Spectrin=FE(1.8=100)
A:
NA
C2:
PF060097=Laminin_II=PD(42.7=56.4),PF0043516=Spectrin=FE(69.4=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
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