ENST00000397454.2 CFAP251

Information
Transcript ID
ENST00000397454.2
Genome
hg19
Position
chr12:122,356,498-122,409,975
Strand
+
CDS length
2,826
Amino acid length
942
Gene symbol
CFAP251
Gene type
protein-coding
Gene description
cilia and flagella associated protein 251
Gene Entrez Gene ID
144406
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 122,356,498 122,356,614
2 122,359,192 122,359,589
3 122,361,528 122,361,896
4 122,369,652 122,369,792
5 122,372,153 122,372,262
6 122,380,440 122,380,551
7 122,380,801 122,380,881
8 122,386,890 122,386,967
9 122,389,386 122,389,436
10 122,392,026 122,392,240
11 122,394,980 122,395,174
12 122,396,178 122,396,428
13 122,396,849 122,397,000
14 122,398,491 122,398,664
15 122,399,884 122,400,068
16 122,404,861 122,404,975
17 122,405,912 122,406,075
18 122,409,464 122,409,975
CDS
Exon number Type Start Stop
2 CDS 122,359,212 122,359,589
3 CDS 122,361,528 122,361,896
4 CDS 122,369,652 122,369,792
5 CDS 122,372,153 122,372,262
6 CDS 122,380,440 122,380,551
7 CDS 122,380,801 122,380,881
8 CDS 122,386,890 122,386,967
9 CDS 122,389,386 122,389,436
10 CDS 122,392,026 122,392,240
11 CDS 122,394,980 122,395,174
12 CDS 122,396,178 122,396,428
13 CDS 122,396,849 122,397,000
14 CDS 122,398,491 122,398,664
15 CDS 122,399,884 122,400,068
16 CDS 122,404,861 122,404,975
17 CDS 122,405,912 122,406,075
18 CDS 122,409,464 122,409,518
Other genome
Genome Chromosome Start End Links
hg38 chr12 121,918,592 121,972,069 Link
CDS sequence
ATGTCAGATGCAGCAGAAGCTCCCCGAGAAGCAACAGGAGAAAATGGAGAAACAGAAATGAAAGAAGAGGAGGAACCTAATCCAAATTATAAAGAAGTAGAAGATCCACAACAGGAATCAAAAGATGACACAATAGCATGGAGAGAGTCTCAGGAGGAGGAGAGGAAAACGGGCGAGGAGGAAGGGGAGGAGGAGGGGAAGGAGGACAAAAAGATTGTCATGGAAGAAACTGAGGAAAAGGCTGGAGAAGTCCAAGAGAAGGAGGCTTCAGGAATACAGGAAGAAACCACAGTAGAGCCCCAAGAAGTCACAGCGTCCATGATCCGTTTGGAGACACAGATTACTGATTCCCAGTCAATCACATCAGGAATTTTCCCAAAAACCCAAAGAGGTAGCAAGTCAAAGCTTTCCTTACAATTGGAGGATGCAGAAACAGATGAGCTTTTAAGAGACCTGAGCACACAAATTGAATTTCTTGATTTGGATCAAATCAGTCCTGAGGAACAACAGATTAGTTCCCCTGAAAGGCAGCCCTCAGGAGAGCTTGAGGAGAAAACCGACCGGATGCCCCAAGATGAACTGGGACAAGAAAGAAGGGACTTGGAGCCAGAAAACAGAGAGGAGGGACAAGAAAGGAGAGTATCCGACATCCAGTCCAAAGCAGGGATCTCCCGGGAGTCACTGGTGTCCAGCACCACAGAGGACATTCTGTTTCAAAAGGATAAAAGCACCCCGGTGTATCCCTTGACCATGACCTGGTCGTTTGGATGGAACAGTTCTCTTCCTGTTTACTATATTCGAGAGGAAAGGCAGAGAGTTCTTCTGTATGTTTGTGCTCACACTGCGATCATCTACAACGTGTTCAGGAACAATCAATACCACCTTCAGGGCCACGCCAATATTATCTCCTGCCTCTGCGTCAGTGAAGACAGGCGGTGGATCGCCACAGCAGACAAAGGGCCAGACTGCCTGGTGATTATATGGGACTCCTTCACAGGTATTCCTGTGCACACAATATTTGACAGCTGCCCTGAAGGGAATGGCATCATGGCCATGGCCATGACCCACGACGCCAAGTATCTGGCAACCATCTCAGATGCTGAAGTCCAGAAGGTATGCATCTGGAAGTGGACTTTGGCAGTGGAAACGCCAGCATGCACTCTCGAACTCCCCACAGAGTACGGTGTTCAGAACTACGTTACTTTTAACCCAACAAATAATAAAGAATTGGTGAGCAATAGTAAAACACGGGCAATATATTATGCATGGTATGAAGAGAGGGATACACTGGCTCACAGTGCCCCACTTTTAACTGAAAAAACCTTCAACAAGCTTGTGGGAAAGTTTAGCCAGTCCATCTTTCACTTGAATTTAACACAAATACTCTCAGCCACAATGGAAGGGAAGCTGGTTGTCTGGGACATACACCGCCCACCCTCATCTGCCTCCACCTTTTTGGGCTTTCCCTATATCAAGCCTTGTAAATTGGTTCATTTGCAGAAAGAGGGTATCACGGTACTTACCACAATTGATAGCTACATTGTCACAGGTGACATTAAGGGGAACATTAAGTTCTATGATCACACCCTGTCTATTGTTAACTGGTACAGTCACTTGAAACTGGGCGCCATAAGAACTCTGTCCTTTTCAAAGACCCCAGCAACTCCTCCTACTGAAAAATCAAACTATCCTCCTGACTGCACTTTAAAAGGTGACCTTTTTGTCTTAAGGAATTTTATCATTGGAACATCTGATGCCGCGGTGTACCACTTAACAACAGATGGGACCAAACTTGAGAAGTTATTTGTAGAGCCCAAGGATGCCATTTGTGCCATCTCCTGCCACCCATATCAACCCCTCATTGCCATCGGGAGCATCTGTGGGATGATCAAAGTGTGGAATTATGAAAACAAACAATATCTTTTCAGCAGGGTTTTTGAGAAGGGGCTTGGAGTCCAGAGTCTGACCTACAACCCCGAAGGAGCCCTTCTTGGAGCTGGCTTTACAGAGGGGACAGTTTACATTCTTGATGCAATGTCTTTAGAAAATGAAAGCCCAGAGCCTTTCAAATATTCCAGAACCAGTGTGACTCATATAAGCTTTTCCCATGACTCCCAGTATATGGCAACTGCTGATAGAAGTTTTACTGTGGCTGTTTACATGCTGGTGGTCAGAAATGGACAGAGGGTCTGGGAGTACTTAGCAAGACTTCGCTCTCATCGCAAAAGCATTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAGCCTAGACTGCTGAGCCTTGGGACAGACAGGCTCTTGATAGAGTATGATCTTCTCAGGAGCTACAAAGACCACCTGGAAGTCCTGGACATTCACCACACCGACCAGGGCTGCTATCCCACCTGCATGGTCTGGTACCCACCACTCACCAGGGAACTCTTCCTGCTTATTTGCAACAGTGGCTACAAAGTGAAGCTTTTTAATGCTACTACCAAAATGTGCAGAAAGACGCTTCTGGGGCCAGCTTATGGTTCCCCTATTGAGCAGACACAAGTCCTCCCAGTGAGAAGCATGGCGGAGCTACAGAAACGCTACTTGGTGTTTATTAACAGAGACAAGGTGGGACTTCAGATCTTACCAGTTGACGGCAATCCACATAAGACATCTGCTATTGTTTGCCACCCGAACGGGGTGGCCGGCATGGCCGTTTCCTATGATGGCTGCTACGCCTTCACTGCGGGAGGGCACGATCGCTCGGTGGTGCAGTGGAAAATCACCTTAAGCCATCCTGGGAGCCAGGCACCAATATTATCCCCATCAGACACATCAAGAAGCTAA
Amino sequence
MSDAAEAPREATGENGETEMKEEEEPNPNYKEVEDPQQESKDDTIAWRESQEEERKTGEEEGEEEGKEDKKIVMEETEEKAGEVQEKEASGIQEETTVEPQEVTASMIRLETQITDSQSITSGIFPKTQRGSKSKLSLQLEDAETDELLRDLSTQIEFLDLDQISPEEQQISSPERQPSGELEEKTDRMPQDELGQERRDLEPENREEGQERRVSDIQSKAGISRESLVSSTTEDILFQKDKSTPVYPLTMTWSFGWNSSLPVYYIREERQRVLLYVCAHTAIIYNVFRNNQYHLQGHANIISCLCVSEDRRWIATADKGPDCLVIIWDSFTGIPVHTIFDSCPEGNGIMAMAMTHDAKYLATISDAEVQKVCIWKWTLAVETPACTLELPTEYGVQNYVTFNPTNNKELVSNSKTRAIYYAWYEERDTLAHSAPLLTEKTFNKLVGKFSQSIFHLNLTQILSATMEGKLVVWDIHRPPSSASTFLGFPYIKPCKLVHLQKEGITVLTTIDSYIVTGDIKGNIKFYDHTLSIVNWYSHLKLGAIRTLSFSKTPATPPTEKSNYPPDCTLKGDLFVLRNFIIGTSDAAVYHLTTDGTKLEKLFVEPKDAICAISCHPYQPLIAIGSICGMIKVWNYENKQYLFSRVFEKGLGVQSLTYNPEGALLGAGFTEGTVYILDAMSLENESPEPFKYSRTSVTHISFSHDSQYMATADRSFTVAVYMLVVRNGQRVWEYLARLRSHRKSIRSLLFGVYLDSNEPRLLSLGTDRLLIEYDLLRSYKDHLEVLDIHHTDQGCYPTCMVWYPPLTRELFLLICNSGYKVKLFNATTKMCRKTLLGPAYGSPIEQTQVLPVRSMAELQKRYLVFINRDKVGLQILPVDGNPHKTSAIVCHPNGVAGMAVSYDGCYAFTAGGHDRSVVQWKITLSHPGSQAPILSPSDTSRS*