HsaEX0037170 @ hg38
Exon Skipping
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39327218-39349627:+
Coord C1 exon
chr1:39327218-39327353
Coord A exon
chr1:39331203-39336653
Coord C2 exon
chr1:39349478-39349627
Length
5451 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTTTTTTTAGGAA
3' ss Score
13.15
5' ss Seq
CAGGTCAGT
5' ss Score
8.94
Exon sequences
Seq C1 exon
GCTCTCAGAAAAAGAGAAGAAACAAATATCTGAGCAATTGAATGCCCTAAACAAGGCTTACCATGACCTTTGTGATGGTTCTGCAAATCAGCTTCAGCAGCTTCAGAGCCAGTTGGCTCACCAGACAGAACAAAAG
Seq A exon
GAATGCAGAGCAGTTGCTGGGGTGATTGACCTAGGCACAGTGGAGATATTTCCCATCTTCAAAGCCATGCAAAAGGGCCTCCTTGACCAAGACACAGGCCTAGTGCTTCTGGAATCTCAGGTTATCATGTCTGGCCTCATTGCCCCTGAGACGGGTGAAAACCTCTCTTTGGAGGAGGGCATAGCCAGAAACCTCATTAATCCCCAGATGTACCAGCAGCTCCGGGAGCTACAGGATGCCCTGGCCTTAATAAGCAGGCTTACTGAGAGCAGAGGCCCTCTTTCTGTGGTGGAAGCAATTGAAAAGAGAATAATCAGTGAGACAGTTGGACTGAAAATCTTAGAAGCTCACCTGGCAACTGGAGGTTTCAGTCTTTCCCCTAGTGAGAACTGTATTAACCTGGAAGAGGCTTTTCATCAAGGCCTCATTTCTGCATGGCTTCATTCAGTATTAGAGTCTTATCTTAGAACATCCAAGAATTTGATAGACCCTAACACAGCTGAGAAAATTGGTTTGCTGGATCTGATGCAGCGATGTATTGTCCACCAGGAATCAGGATTCAAATTACTGCCTGTCAAACAATTGGCAGGGGGGATGGTGAGCTTGAAATCAGGCCGGAAGGTTAGCATTTTCCGTGCAGTTCAGGAAGGGCTAATAGATAGGCAGGTCACTGTCCGGTTGCTGGAAGCTCAGCTTTTTGCTGGTGGCATAGTAGATCCAAGAACAGGACACAGACTTACAGTGGAAGAGGCTGTAAGACATAATCTGATTGACCAAGATATGGCCTGTGCTATCCTCATAAGGCAGCTTCAGACAGGAGGCATCATAGACACTGTCACGGGGCAAAGGCTAACAATAGATGAAGCAGTGAGCAATGATCTAGTAGCTGCTAAGATCGCCCTTGTGATTCTGGAGTCCCTCTGGTCATTCATGGGGTTGCTGTGGCCTGAATCTGGAGAGATCCTCCCAATTACAGATGCCCTAGAACAAGGTATTGTGTCTACTGAACTAGCACATAAAATCCTTAGTAACCGACAGCATATTAAGGCTCTGTTTCTACCAGCAACCACAGAGATTTTGTCCTGGAAGAAAGCAATAGAAAGTGGTATCCTGGATAGAGATCTTGCCAATAACTTAAAATCGATTTGTATACCTGATGTGATGCCCCACATGCAACTAGCAGACTCTGCAGAACAAAATATTAATCCTGGAGCAGCAGTTCTACCGTGCAGCAAGAGCCACCCTAAGGCCACAGCAAGCCAGAGTGAGAATCTGTTGTTCCAGCTGATGACTCACAGCTATATTAATGTGCAAAATGGACAGAGGCTGCTTCTGTTAGATAAAGAGCTGATGGAGACACTAACATCCAGAGATGAGTATCAAACAAGTCCTCCAAAAGTGGTTGAAATTGGGCATCAAAGGCAAAAAACTCCTGAGGGATTGCAAGAATCAGCTAATGTGAAAATCTCAGGAACTTTCAGCAGTGGGTGGACTGTGAGGCTGCCTGAGTTCCAGTTTTCTTCTCAGAACAAAGAATATCCCGATCGGGAAGATTGCACTACAGAAAAAGGCAAAAAGACCACTGTAGAAACAGAAGATTCTTCTGTAGAGAACCCTGAACAGGATCTGTTTGTAGAACAAAAAGAGAGAAATCCAAACATTGATGCTTTGAAGGTAATAAATAAAGTCAAATTAGAGGTACAAAGGCAGTTGATAGGTACCCAAAGGGAAGACCAAACAGCAGTGTCTGTCAGAGAAAATGCCAGCAGGGGACACCTCCTGACCATACCTCCTGCTGAGGCGGAAGGTGTGCCGTTGGTGGTTGACAAAGATGTTTTTTCTGTTGAAACACCAAAGAAAGAACATCAACCTCTAAGAAACACTTCCTTTACATGTCAGAATGAACAAGCACACACTCTTGAGACTGAATATATTCATGATGAAACTGGAGGATCTCACATAAAACCCCAAAGCAAAAAGTTACAAGTTCAGGTAAAGAAAACTCTAGGTATAAAGTTAGAACTAAAGTCTGAAACTGATGGGAATGTTCATCCTCTGGACAAAAAGGAAATGTTAAAGAAAACATTTCTGGCTAAGGATGACCATAAAGAAAGTCAAGAAGCACAGAACATCGCAGGTGGTAGTATGATGATGTCAGAAAAGACCGATGAGGAAGATAGTGGCAGGGAAATTTTTCTGTCATGCAGTCATCCATTAGAATTGCTTGAAGAAGCTACCTTAAATGTATTATCTGCACAGTTACTAGATGGTGGTATCTTTCATGAACAAACAGGTCAAAAGCTCTTACTAAATGAAGCAATATCCCGAGGCATTGTGCCAAGTCACACTGCCGTGAAGCTTATGGAGAAGCTGAACATGTTTCAGGGGTTCTTTGACTCTCAGACTTGTGAGTCTTTGACAACTGAAGAAGTCATTAATGAAGGTCTGATGGATGAGAAATTATTACATAATGTCCTCATGGCAGACAAAGCTATAAGTGGTGTCTTAGACCCCCGTACCCAGACACTGTGCTCTGTAAAGGATGCAGTTACAGTTGGACTTCTTGACAAGGAAACAGCCACCAGAATTTTAGAGAGGCAGGTGGTGACTGGTGGAATTATTGATCTGAAACGAGGCAAAAAAGTTTCAGTAACTTTGGCCTCAACTCTTGGCTTGGTGGACGTTGCTGACCAGCCAGAACTTATAAATCTGGAGAAAGCTTCCAAAGGTAGAGATGCTGAAAAAACAGTTAGGGAGAGATTAATTAGTTTACAAATGGAAACAACAGGACTTATAGACCCTGATAGTAAAGCACCTTTAACAGTTGTGCAGTCCATTGACAGAGGTCTTTTGGAGAGAGAGGAGGCCGTTCGTTTGTTGACTAAGCAAGTGGTAGATGGAGGTATCATTCACCATATATCTGGGATGAGACTTTCTGTTGATAATGCCTTCAGACATGGCTTAATTGGTGAAGATTTAGCCGAGAAACTCAAAAGAGTTGAGAACTTAAACATCCATCAGATTTTTAATCCTGAAACGAAGGAAAATATTTCCCTCCCTAAAGCCATAAAATTAGATCTTATTACCTCAGACCTGAAAAGAGAAATCCAGGAGGTTCAGGCCTTTACTGGAAACTTTGTGGATCTCATTTCTGGTCAGAGATTGACCTTGGCAGAAGCTAAAAAAGAAGGACTGTTAACTAATGAAGCAGTATTGTCTCCAGGAATGATGCATGGCATTGTAGATCCCGAGAACTGCAGAATTGTCCCCTACTCAGAATTAGTCAAGAAATGTAAGATTGATATTGAATCTGGACAGAGATATCTAGAAGTAATTCCCTTCTCAGACATTAAAGATGGGGTGAGCGACAAAGTGCTTACATTGTCTCAAGCAATTCAGCTTGGAAAAGTAGACTTTGCATCTACGCTGAAGGTTCTAGAAGCCCAGGCAAATACTGGTGGAATCATAGATACTGCTACTGGAAAAAGACTGACATTGGCATCAGCTTTGGAAGAGAAACTGGTGGATGAAAACATGGTCAGAATTATTGCATCTCATCAGGTGTTAAATGGAGGAATTGTTGACATATTTAGTGATCAGAGAGTGACTTTAGTAGAAGCTATTGAGAAAAGACTGATCAGCCCTGAACTGGCAAATATGATCCAAATAGATAGTTCAGAGTTCAGCGATCACAGGGCTCAGATTGAAAAGCAAGAAGGGATTGAAGTGTGTGCATTACAAAATGAATTTCTAGGAAAGGATATGTTAATTGCTTGTAATCAGACTGCTGAAATGAGTTGTAATAAAGTAGAAGAGAGTGAGAGATTATTTCAAGTTGAAAATCAGTCTGCACAAGAAAAGGTTAAAGTGAGAGTTTCTGATGGGGAGCAGGCAAAAAAGAGCAGGGAAATTTCCTTAAAGGAATTTGGGTGCAAGGATCAACGTAAGCCAAGAATGTCTTCAGATGCTAAAGAATTTATCAGTATCATAAATCCTCATAATCTTAAAGGTAAATCCTTGGGCCAAGTGTCATTGACACACCCTTACTCTGAATGTGATTTTAAACTTAAAGAAGTGGCTAGAAATAACATGGGAAATGATACAAATGAAGAGCAGGAAAAAGCAGTGACAAAAATAGAAATTATTTCTCATATGAAGCAGTCTACCTCATGTCTAGATTCTGAAGAAATAAGAGAAAATCAAGGGGAAGTGATTTTGGAAGTACAAGAAACATATTGTGAAACGTCAGGCAAATTGCCGAGTGAGCAGGTTTTGCAGCAACCAATGAATGCTCGGGTGAAAAGTAAGAGAGAGAAGAGGGAGGTGATTGTAGAAGAAAGTATCAGAACATGCAAACCAGCATTTCTTTCTGAAGAAAAGTTGTATCAGGAAACTGCCATTAGAGATGAGCATGACTCCCATATAAAGAGCCAACCTAGGGAAATGACCTCAAGTGAAAAAGGGAAAGAAGCTGATACAGAAATGGGATTTTCTATTACTTTTAAAATTGAAGAGTCCTCTTCCCAAGTGGTACCTCAAGGAATTTCTGTAAAACATTTAGATGCTTTAACACTCTTCAGCTCTAAACAGGCCAATGAAGGAAAAGTAAACAATTTAAGTCTCTGCTTGACTTTAAAACCAGAAGAAAACTTATCTCGAGAAATTGCCTGTGGGGCCCAGAGTGAACCATTCCCTTGTATGACCCCAAGACCTGAAGGATTGCACTACCAGGAATCAGATGGAAAAGCCCAAGTGACAGGCCCATCCCAAATTTCCAAAACAGACAAGTCTTTCCAAGGAACCACCAGACAGGAGACCAACTATCAAGATTCCTGGGTTACTTCGAAAACTAAGGAAACCAAACATCAAATTTCCTCATCTAATGAATGTAAAGAAAAGTCATACCAAGAAGTATCTTTTGACCCAGCAAGAGGTCTTAAATTGGAAGAAATCACAGTTTCTAGACCAGATTCAAAAGAAGTCAGGTATCTAGAATTCTCAGACAGAAAAGACCTTCATCATCAGGGCAGCAAAAGTGATGATAAACTTTGTGGAACTCTCAAATCTGAAATAGCAACACAGGAACTAACTGGAGAGAAATTTCTAGAAATGGCAAACCCTAATGTTGCAGGTCTAGAAGCAGGATCCATTGAGGACATAGTGACTCAGAGAGGTTCCAGAGTCTTGGGATCCTTTCTTCCAGAGAAACTGTTCAAAGGAGTGTCTCAAAAAGAGAATACAGGGCAACAGAATGCCATCATTAGTCCTACTGTTCTAGAGACCAGTGAAGAAAAGACAGTGTCCCTAACAGTATGCTCTGCAGTGAAGACAGAGAAGACACCACAGGAAAAGCTCAGAGAAAGCCCTGGCAGTGAACAAACTCCCTTCATGACTGCACCTGAAGGAAAGGGAAATGGAGGTGTAAACCCAGAGCCCTTCAGAGCAACTCAG
Seq C2 exon
ACCCTGCAGAAACAACAAAATACCTGTCACCAGCAACTGGAGGATCTTTGCAGTTGGGTAGGACAGGCAGAAAGAGCACTGGCAGGCCACCAAGGCAGAACCACCCAGCAGGATCTCTCTGCTTTGCAGAAGAACCAAAGTGACTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603_MULTIEX2-2/6=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.207 A=0.282 C2=0.502
Domain overlap (PFAM):
C1:
NO
A:
PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.4),PF0068115=Plectin=WD(100=1.9),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.4),PF0068115=Plectin=WD(100=2.5),PF0068115=Plectin=WD(100=2.1),PF0068115=Plectin=WD(100=2.3),PF0068115=Plectin=WD(100=2.5)
C2:
PF0043516=Spectrin=PU(40.7=92.0)
Associated events
Other assemblies
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
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development