Special

HsaINT0137473 @ hg38

Intron Retention

Gene
ENSG00000108352 | RAPGEFL1
Description
Rap guanine nucleotide exchange factor like 1 [Source:HGNC Symbol;Acc:HGNC:17428]
Coordinates
chr17:40177495-40181694:+
Coord C1 exon
chr17:40177495-40178381
Coord A exon
chr17:40178382-40181615
Coord C2 exon
chr17:40181616-40181694
Length
3234 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGG
5' ss Score
11.08
3' ss Seq
GTGCCCACTGATCTTTACAGATA
3' ss Score
7.08
Exon sequences
Seq C1 exon
CGCAGCCGCCGCCGCCGCCGCCGCCGCGTCCTCTCAGCCTTGCGCTCCGCCCGCTGCCTCTGCCGCCGCAGCGCAGAGCCGGGCGCACCGGCCCCGCAGCCTGCCCACTCTTCGGGCCGCGTGCCGGCTGCAGCCGGCATGGGGGGTTGCTGAGAGCGAGCACTCCTTTCCTCTGGCACCTCCCCCGGCTACTGGCCACTGGACTCTGGCCAGCGAGGCTCGGCCCCTCTGGCCCCCAGTCTGGCGCCTGGCACGGCCCTCTACTCTGCTCCTCCAGCTCTGAGCATCGTGTCTTCGCCGCCCCCCCCGCCCGCGCCTGGGATACCTGGGTCCCCCGGCGACCCCTAGGAGAGGGGCGGGGGGGGGCATGAAGCCGCTGGAGAAATTTCTGAAGAAGCAGACGTCGCAGCTGGCGGGCCGAACGGTGGCGGGAGGTCCCGGCGGGGGTCTGGGGAGCTGCGGTGGGCCTGGAGGGGGTGGGGGACCCGGCGGGGGCGGCGGTCCAGCCGGGGGACAGCGGTCGTTGCAGCGGCGTCAGAGCGTGTCTCGCCTGCTGCTCCCCGCTTTCCTCCGGGAGCCCCCCGCCGAGCCGGGGCTGGAGCCGCCCCCTGAGGAGGAAGGAGGAGAGCCGGCGGGGGTCGCGGAGGAGCCGGGCAGCGGGGGGCCCTGCTGGCTGCAGCTGGAGGAGGTGCCGGGGCCCGGGCCTCTCGGGGGAGGGGGGCCCCTGCGCTCCCCTTCCTCCTACTCATCTGACGAGCTGTCCCCAGGCGAGCCCTTGACTTCGCCGCCCTGGGCCCCTCTGGGCGCCCCCGAGCGGCCCGAGCATCTTCTGAACCGGGTTCTGGAGCGGCTTGCTGGAGGGGCTACCAGGGACAGCGCCGCCTCAG
Seq A exon
GTAAGGAGCCGGTGGGCTCGAACACCCAGAGCAGGGGCTGGCCCCGGCTCCTCTTCCTTGCCCTTGGAGCGTAGGGGTGGCGCCGTGCCGGGGCTTGGTTATAGGGTTGAGTGGTCCGCGGAAGCCGGCTAGGGGCCTAGCGGAGGTACAGACCCTCCCGCGGAAGAGGAGAGCAGTACTCACCTTCCTCCCTACAGCAGCCTCACCCTCGTCTGGAGAAGCAGCTGAGCCTCTTACTCTCCTTCAGCCACCCTTCCTTTCCCCTGGGCATTGGAGCCACTGACTCCCATGGGTCCCTGATGTTGAATACCTCCTCCTGTGGCCCCAAATTAGGGCCTGACACATTAAAATGGGAGCTGCCCAGCGCAGCCATGCCACCCGCCAGAGGTGCTTTAGCCCTGAAAACCCTGGGGTCCCTGACTGTTCAGAGGCCTACACAGCGCAGGCTGACCCACCCAGGGAGGCAGTGCCAGACAGGCACAGGCCCCAAGCTGCCTTTTAGGCATCAGCAAAGGGATGCGTTGTCCTTAGCAGTTTGGTGGGGGGGATAGTATTCTCCTTGGGCTGGACTCAGAAGGTGTCTGGGAGGGGAGAGGTGGCTGGGCCGGCATCATGGCCCTGCAGCATCCAGGGTGTCCAAGCGCCTCCAGCTTCCACCCTTCGGTGGCAGGCCTCAGCACCCGGCTTTTTTTTTTTTTTCTTTTGGAGATGTAGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCGCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGGCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCGGGGTTTCACCAACTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTTATCTACCTCCCCCCACCCCCACCCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGGACCTGGCACACGGCCTCTTTAAAATATAATCACCACACCCTGAGAAGCTTATTCCCTAAATGATGATACTATTTCACCACTCCCTTTCAGCACCCCTACTAAGGGGCCTTTGAGGAAACCAAGGCCCCAAATCTGGTTAGTTCTGAGGTAGAAGACCGAGGGTTCTTTAGGTCTAGCTCTAGGCATTACTCTAAGCCCAGGAGGGTCTGAGGTTTGGGAGCCCCGGCTGAGGCCCTAATGGTGAGGGCTTTCACACTTGCTCTCAGCCCTCGGCAGGGAACCCCAACCTAGATGTGTGGAGGGGGGCTCCACTCTCCTAGATCCTTCTCAAGACCTGGGTCCTCTCCTTTGGAGCAGGCTGTAGTTGCCCTGGGGAGCTGACACCTTTTGGATTTAATTAGAAAAATATCAGACACACACAGCTCTCCTAACCATAACTTCCCGCCTACACCACACACCCTGTGTCTCTATGACACATTCCCTAGGGAGGCTGTACATTGGCCCAGAGCCTGCTTTGGAAAAGACAGATGCCCAACTGTGGCCCCCATATCAGCATCTCCCCAACTCTGCCCCATCTTACTCTTCCTTTGCTCCAGCTTAGGAATCCTGTGAGATAAAGTCTATGAAGGATGTCAGGCCTCTCGTTTCCTCACCCTCATCCCTGAAGCTGGGGGTCAGAGCTGGAGGCTCTCTGACTCATTGTAAGAACACAGCAGGGTAGCTGGGCAGGGAGGAAAAGGGAGAAGCTGTCTTTCCCCTTTTACAGGGGCCTGGTGCCACACGCTCCGCTCATTCTCCCCTGGGGTAAGACTCCTGAAATGTCACCCATGTTATCTGGCAGCCTGGATCCCCAGAGTAACTAGTTTGGGAAATTCCAAACCAGTCCCAGGTGAATGAGAATCAGCTTAACCTGCCACTCTGATGTTCTCCAATAAAACCAATGTTCTCAAGTCATCCTGGTCTCCTCCCAGGGTGTGTGGGAGGAGAGAACTTACAGAAGTTACTCTGAACCTACCAAAGCCTCTCCAACGTCCAAGCAGCCCCCTCTGACCGCTAGGTTTTACCCTAACACTCTGCTTGCCTCAGGCATATTGAGAAAAGGACAAAGACTCAGGATTCTGGGTTCTTATTCCAGCTCCAGGCAAGTCCCTCCCAGCTCTGGGCCTCAGTTTCACATTTGCGAAATGAAATCCTTGAAGTCAATTACTTTGTGTTGGTTTTCCTCCTCCGCCTGCATGGCTAGAACTGACCACAGGAGATAGTGAACCAAGGGGAGTCAGAAGCCTTGGTTTTGTCCTGGGACAGTGCCTGGGGACCTGGCCCTAACCAGTCCTGGTGAGGACACCTGGCTCCCTCCCTGCACCTTGTCTGTCTGTGTGTGCCAGGTGGCCCTGCCCCACCCCAGGGCTGGCTGCAAGTCAGGGCGACCTTGTACCCGGCTGACTGGCTGAGCCAGGCCCAGACGGGGGTGTGGAGGGGAAAGGGGTGGTGAGAGGAGCCGCTCCCCTTCACCATTCCATCATTAACCCTTCTGTCTCTGGGCCCCTAAAGGACACAGGATTTCTATTTAAAGGTTCTGGGATCAAAGTGATGGCAGTCTCTCCATCTCCCTTTTAATCAGGCTGGTTCCCACCTGCCTAGTTAGAACTCAAAGCTGTTAGGTGGGAAATGGGGAGGGGAAGAGGGATACACACACATGCACACACACAGTCCCCACTGATGCTAACCTCTGTGTTTGGAAATACTCTTTGTCTGGAGACACTTCTGTGGGCTACTTCTTTTTTCAGGCAGAACTCAACCTTGGTGTGTTATCTGACCAACTTCCCACATACGCTGAAGAGAAGTGCACATGGCCATCAAAGGCACGCGCCCCCCCCTTCCCTTCAGCTGCCTTGGCAGCTGCCGAACCCACCCTCGCAGTGGCTGCCCAGAACCTTTACACATGTATGTGTGCGCGTGTGCAGAGCATGACAAGGCAGGTGGCTGGGGCTCCAGCCTGGCTAAAGAGAACTTGCCCTTAGGGGCAAGAGAGGGAGGCACTGCATTTCCAGTTTCGTTCTGGAAGTGCCCACCTGACATCTGTGGTGCCCACTGATCTTTACAG
Seq C2 exon
ATATCCTGCTGGATGACATTGTCCTTACCCATTCTCTCTTCCTCCCGACGGAGAAATTTCTGCAGGAGCTACACCAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108352:ENST00000613811:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.922 A=NA C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development