HsaINT0098153 @ hg19
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:13664]
Coordinates
chr1:39895499-39896580:+
Coord C1 exon
chr1:39895499-39895740
Coord A exon
chr1:39895741-39896373
Coord C2 exon
chr1:39896374-39896580
Length
633 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
AAACTCTTTTCCCTCCTTAGGAA
3' ss Score
10.22
Exon sequences
Seq C1 exon
GTGAGGAGGTGTTACTTATCCAGGAAAAACTAGATGGTATAAAGACTCGTTACGCAGACATCACAGTTACTAGCTCCAAGGCCCTCAGAACTTTAGAGCAAGCCCGGCAGCTGGCCACCAAGTTCCAGTCTACTTATGAGGAACTGACCGGGTGGCTGAGGGAGGTGGAGGAGGAGCTGGCAACCAGTGGAGGACAGTCTCCCACAGGGGAACAGATACCCCAGTTTCAGCAGAGACAGAAG
Seq A exon
GTGAGCTGTTACTTTACCATAAAAAGAAAAAAAGGCTTCCTCTTTGTCAGAATCCTTAAGTTTTATCAACCTTTACCTTAAATATAAACTAAAAATATGTGCCCCCTTTCTTGTTTACTCATGGACAGTAAGATTTGACATAAAGACATATACGTTACACATATGTTATGAAGAAGAAAGAAGTTGAATCAAGTTTACTTTGTAACATTTTAACCTCTATTATTTATTCTCTAAAGAGTGCTTCATGGTTTTATTTGATTTCTCTGCAGGATCTAGTATAGTTCTAGATGCATAGAAATATTGTATAGGTACTTGTTAGGTTAAATACTGAGCCTTTGGTTAAAGCATTATTTATCATTTCTGTTGAAGTAAGGAGATGAAAGAAGTATTAGTTGTTTTACCCAGAGACAATGTGGCTCAAAAAGTCTTACAGGCAGTTCTAAGCAAGCAACAATGAAGTCTAAAGTCAGGCTTCAGAATGATTGAAAAATCTGAGATGAGAAAAAAATAACTGAAGGAAGGAGGTCAGAGTCCTGCTGGGATGTGTGGTAGAGATAGCAATTTCCACCCAGCACAGTTGCTGATGTGCTTTATTTAGCAAGGTATGGCCTGAAAACTCTTTTCCCTCCTTAG
Seq C2 exon
GAATTAAAGAAGGAGGTCATGGAGCACAGGCTGGTGTTGGACACAGTGAATGAGGTGAGCCGTGCTCTCTTAGAGCTGGTGCCCTGGAGAGCCAGAGAAGGGCTGGATAAACTTGTGTCCGATGCTAACGAGCAGTACAAACTAGTCAGTGACACTATTGGACAAAGGGTGGATGAAATTGATGCTGCTATTCAGAGATCACAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603-MACF1:NM_012090:61
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.271 A=NA C2=0.002
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(30.8=40.7),PF0043516=Spectrin=PU(41.1=54.3)
A:
NA
C2:
PF0043516=Spectrin=PD(57.0=88.4),PF0043516=Spectrin=PU(3.7=5.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAACTTTAGAGCAAGCCCGG
R:
GCAGCATCAATTTCATCCACCC
Band lengths:
344-977
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)