ENST00000397454.2 CFAP251

Information
Transcript ID
ENST00000397454.2
Genome
hg38
Position
chr12:121,918,592-121,972,069
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
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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 :
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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 :
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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
1 121,918,592 121,918,708
2 121,921,286 121,921,683
3 121,923,622 121,923,990
4 121,931,746 121,931,886
5 121,934,247 121,934,356
6 121,942,534 121,942,645
7 121,942,895 121,942,975
8 121,948,984 121,949,061
9 121,951,480 121,951,530
10 121,954,120 121,954,334
11 121,957,074 121,957,268
12 121,958,272 121,958,522
13 121,958,943 121,959,094
14 121,960,585 121,960,758
15 121,961,978 121,962,162
16 121,966,955 121,967,069
17 121,968,006 121,968,169
18 121,971,558 121,972,069
CDS
Exon number Type Start Stop
2 CDS 121,921,306 121,921,683
3 CDS 121,923,622 121,923,990
4 CDS 121,931,746 121,931,886
5 CDS 121,934,247 121,934,356
6 CDS 121,942,534 121,942,645
7 CDS 121,942,895 121,942,975
8 CDS 121,948,984 121,949,061
9 CDS 121,951,480 121,951,530
10 CDS 121,954,120 121,954,334
11 CDS 121,957,074 121,957,268
12 CDS 121,958,272 121,958,522
13 CDS 121,958,943 121,959,094
14 CDS 121,960,585 121,960,758
15 CDS 121,961,978 121,962,162
16 CDS 121,966,955 121,967,069
17 CDS 121,968,006 121,968,169
18 CDS 121,971,558 121,971,612
Other genome
Genome Chromosome Start End Links
hg19 chr12 122,356,498 122,409,975 Link
CDS sequence
ATGTCAGATGCAGCAGAAGCTCCCCGAGAAGCAACAGGAGAAAATGGAGAAACAGAAATGAAAGAAGAGGAGGAACCTAATCCAAATTATAAAGAAGTAGAAGATCCACAACAGGAATCAAAAGATGACACAATAGCATGGAGAGAGTCTCAGGAGGAGGAGAGGAAAACGGGCGAGGAGGAAGGGGAGGAGGAGGGGAAGGAGGACAAAAAGATTGTCATGGAAGAAACTGAGGAAAAGGCTGGAGAAGTCCAAGAGAAGGAGGCTTCAGGAATACAGGAAGAAACCACAGTAGAGCCCCAAGAAGTCACAGCGTCCATGATCCGTTTGGAGACACAGATTACTGATTCCCAGTCAATCACATCAGGAATTTTCCCAAAAACCCAAAGAGGTAGCAAGTCAAAGCTTTCCTTACAATTGGAGGATGCAGAAACAGATGAGCTTTTAAGAGACCTGAGCACACAAATTGAATTTCTTGATTTGGATCAAATCAGTCCTGAGGAACAACAGATTAGTTCCCCTGAAAGGCAGCCCTCAGGAGAGCTTGAGGAGAAAACCGACCGGATGCCCCAAGATGAACTGGGACAAGAAAGAAGGGACTTGGAGCCAGAAAACAGAGAGGAGGGACAAGAAAGGAGAGTATCCGACATCCAGTCCAAAGCAGGGATCTCCCGGGAGTCACTGGTGTCCAGCACCACAGAGGACATTCTGTTTCAAAAGGATAAAAGCACCCCGGTGTATCCCTTGACCATGACCTGGTCGTTTGGATGGAACAGTTCTCTTCCTGTTTACTATATTCGAGAGGAAAGGCAGAGAGTTCTTCTGTATGTTTGTGCTCACACTGCGATCATCTACAACGTGTTCAGGAACAATCAATACCACCTTCAGGGCCACGCCAATATTATCTCCTGCCTCTGCGTCAGTGAAGACAGGCGGTGGATCGCCACAGCAGACAAAGGGCCAGACTGCCTGGTGATTATATGGGACTCCTTCACAGGTATTCCTGTGCACACAATATTTGACAGCTGCCCTGAAGGGAATGGCATCATGGCCATGGCCATGACCCACGACGCCAAGTATCTGGCAACCATCTCAGATGCTGAAGTCCAGAAGGTATGCATCTGGAAGTGGACTTTGGCAGTGGAAACGCCAGCATGCACTCTCGAACTCCCCACAGAGTACGGTGTTCAGAACTACGTTACTTTTAACCCAACAAATAATAAAGAATTGGTGAGCAATAGTAAAACACGGGCAATATATTATGCATGGTATGAAGAGAGGGATACACTGGCTCACAGTGCCCCACTTTTAACTGAAAAAACCTTCAACAAGCTTGTGGGAAAGTTTAGCCAGTCCATCTTTCACTTGAATTTAACACAAATACTCTCAGCCACAATGGAAGGGAAGCTGGTTGTCTGGGACATACACCGCCCACCCTCATCTGCCTCCACCTTTTTGGGCTTTCCCTATATCAAGCCTTGTAAATTGGTTCATTTGCAGAAAGAGGGTATCACGGTACTTACCACAATTGATAGCTACATTGTCACAGGTGACATTAAGGGGAACATTAAGTTCTATGATCACACCCTGTCTATTGTTAACTGGTACAGTCACTTGAAACTGGGCGCCATAAGAACTCTGTCCTTTTCAAAGACCCCAGCAACTCCTCCTACTGAAAAATCAAACTATCCTCCTGACTGCACTTTAAAAGGTGACCTTTTTGTCTTAAGGAATTTTATCATTGGAACATCTGATGCCGCGGTGTACCACTTAACAACAGATGGGACCAAACTTGAGAAGTTATTTGTAGAGCCCAAGGATGCCATTTGTGCCATCTCCTGCCACCCATATCAACCCCTCATTGCCATCGGGAGCATCTGTGGGATGATCAAAGTGTGGAATTATGAAAACAAACAATATCTTTTCAGCAGGGTTTTTGAGAAGGGGCTTGGAGTCCAGAGTCTGACCTACAACCCCGAAGGAGCCCTTCTTGGAGCTGGCTTTACAGAGGGGACAGTTTACATTCTTGATGCAATGTCTTTAGAAAATGAAAGCCCAGAGCCTTTCAAATATTCCAGAACCAGTGTGACTCATATAAGCTTTTCCCATGACTCCCAGTATATGGCAACTGCTGATAGAAGTTTTACTGTGGCTGTTTACATGCTGGTGGTCAGAAATGGACAGAGGGTCTGGGAGTACTTAGCAAGACTTCGCTCTCATCGCAAAAGCATTCGAAGTCTCCTGTTTGGGGTTTACCTGGACAGCAATGAGCCTAGACTGCTGAGCCTTGGGACAGACAGGCTCTTGATAGAGTATGATCTTCTCAGGAGCTACAAAGACCACCTGGAAGTCCTGGACATTCACCACACCGACCAGGGCTGCTATCCCACCTGCATGGTCTGGTACCCACCACTCACCAGGGAACTCTTCCTGCTTATTTGCAACAGTGGCTACAAAGTGAAGCTTTTTAATGCTACTACCAAAATGTGCAGAAAGACGCTTCTGGGGCCAGCTTATGGTTCCCCTATTGAGCAGACACAAGTCCTCCCAGTGAGAAGCATGGCGGAGCTACAGAAACGCTACTTGGTGTTTATTAACAGAGACAAGGTGGGACTTCAGATCTTACCAGTTGACGGCAATCCACATAAGACATCTGCTATTGTTTGCCACCCGAACGGGGTGGCCGGCATGGCCGTTTCCTATGATGGCTGCTACGCCTTCACTGCGGGAGGGCACGATCGCTCGGTGGTGCAGTGGAAAATCACCTTAAGCCATCCTGGGAGCCAGGCACCAATATTATCCCCATCAGACACATCAAGAAGCTAA
Amino sequence
MSDAAEAPREATGENGETEMKEEEEPNPNYKEVEDPQQESKDDTIAWRESQEEERKTGEEEGEEEGKEDKKIVMEETEEKAGEVQEKEASGIQEETTVEPQEVTASMIRLETQITDSQSITSGIFPKTQRGSKSKLSLQLEDAETDELLRDLSTQIEFLDLDQISPEEQQISSPERQPSGELEEKTDRMPQDELGQERRDLEPENREEGQERRVSDIQSKAGISRESLVSSTTEDILFQKDKSTPVYPLTMTWSFGWNSSLPVYYIREERQRVLLYVCAHTAIIYNVFRNNQYHLQGHANIISCLCVSEDRRWIATADKGPDCLVIIWDSFTGIPVHTIFDSCPEGNGIMAMAMTHDAKYLATISDAEVQKVCIWKWTLAVETPACTLELPTEYGVQNYVTFNPTNNKELVSNSKTRAIYYAWYEERDTLAHSAPLLTEKTFNKLVGKFSQSIFHLNLTQILSATMEGKLVVWDIHRPPSSASTFLGFPYIKPCKLVHLQKEGITVLTTIDSYIVTGDIKGNIKFYDHTLSIVNWYSHLKLGAIRTLSFSKTPATPPTEKSNYPPDCTLKGDLFVLRNFIIGTSDAAVYHLTTDGTKLEKLFVEPKDAICAISCHPYQPLIAIGSICGMIKVWNYENKQYLFSRVFEKGLGVQSLTYNPEGALLGAGFTEGTVYILDAMSLENESPEPFKYSRTSVTHISFSHDSQYMATADRSFTVAVYMLVVRNGQRVWEYLARLRSHRKSIRSLLFGVYLDSNEPRLLSLGTDRLLIEYDLLRSYKDHLEVLDIHHTDQGCYPTCMVWYPPLTRELFLLICNSGYKVKLFNATTKMCRKTLLGPAYGSPIEQTQVLPVRSMAELQKRYLVFINRDKVGLQILPVDGNPHKTSAIVCHPNGVAGMAVSYDGCYAFTAGGHDRSVVQWKITLSHPGSQAPILSPSDTSRS*