HsaINT1022329 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39435558-39436490:+
Coord C1 exon
chr1:39435558-39435761
Coord A exon
chr1:39435762-39436481
Coord C2 exon
chr1:39436482-39436490
Length
720 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
GACCGCGCCCACCATTACAGATT
3' ss Score
6.57
Exon sequences
Seq C1 exon
CAATTAAGGGAATCTATTGCTGAACACAAACCTCATATTGACAAACTACTAAAGATAGGCCCACAACTAAAGGAATTAAACCCTGAGGAAGGGGAAATGGTGGAAGAAAAATACCAGAAAGCAGAAAACATGTATGCCCAAATAAAGGAGGAGGTGCGCCAGCGAGCCCTGGCTCTGGATGAAGCCGTGTCCCAGTCCACACAG
Seq A exon
GTATGTGTGTGTCTGACACTCATAACCTTGAATTGTCTACTGTTCTAAACAAGAGGTCTCTGTATCAGGTATGTCTCTGTGCTCAGGAATGTCCAGAGCAGCATGTTAATACGTGATCGGTAGATAGAACAGAAAGCTTAGCCTATCTTCATTTTTATTCCAAGGAACATTGGCATACTGACATTCTAAGGAGAGTGAAATGAGTCTTGGCTGGTATATATTGTCTGTTGATGGTTTCTCTGAAAACTTTATGTTGTGATGATCCTTTAGCAGATGATTTTGGATAAATTTACCTTGCAGATTCAAAAGCAGTGACTGCCTCAAAAAAGTACTTATTGAACCTGTTACTTTTTTGCTTTAGAGCAACAGCACATTAGTTTTCTTAAGCAACCAGCTAACTCATAGTTTAAGATGCTTGAGTAAGGAGTAGTAAGAGCCAAAGAGAAGCATAAACCAGCAGAGGGATTTAAAGCATGTAACTACATACTTTCAACTAATATATTACTCTTAGTGGTACTGTTGTCATGTCTGGGTATTTTATTCCTATGTTTAGTCAATATTCTTGGTTAATATTTGTACTTACTCAAGTTTCTCCCCCCACCTTCCGTCCCATCTCTCACTCACATTGTGGAATGTGTTACTTTGTGTTGTTGCTGCCTGCTCCTGTCTTCCCCACATCGTCACATTTCATTGTTGTGTTGACCGCGCCCACCATTACAG
Seq C2 exon
ATTACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:64
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.336 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(56.6=88.2),PF060097=Laminin_II=PU(52.4=79.4),PF0043516=Spectrin=PU(0.9=1.5)
A:
NA
C2:
PF060097=Laminin_II=FE(1.9=100),PF0043516=Spectrin=FE(1.8=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
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