ENST00000683756.1 AMBRA1
Information
- Transcript ID
- ENST00000683756.1
- Genome
- hg38
- Position
- chr11:46,396,414-46,594,023
- Strand
- -
- CDS length
- 3,897
- Amino acid length
- 1,299
- Gene symbol
- AMBRA1
- Gene type
- protein-coding
- Gene description
- autophagy and beclin 1 regulator 1
- Gene Entrez Gene ID
- 55626
Variants
Display target variant
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
---|---|---|
18 | 46,396,414 | 46,397,943 |
17 | 46,408,513 | 46,408,706 |
16 | 46,410,276 | 46,410,368 |
15 | 46,417,913 | 46,418,052 |
14 | 46,433,474 | 46,433,628 |
13 | 46,434,849 | 46,435,037 |
12 | 46,443,488 | 46,443,598 |
11 | 46,493,608 | 46,493,708 |
10 | 46,494,124 | 46,494,204 |
9 | 46,508,191 | 46,508,370 |
8 | 46,512,727 | 46,512,813 |
7 | 46,541,945 | 46,543,398 |
6 | 46,543,975 | 46,544,041 |
5 | 46,545,604 | 46,545,776 |
4 | 46,547,113 | 46,547,296 |
3 | 46,547,817 | 46,547,875 |
2 | 46,548,246 | 46,548,500 |
1 | 46,593,828 | 46,594,023 |
CDS
Exon number | Type | Start | Stop |
---|---|---|---|
18 | CDS | 46,397,450 | 46,397,943 |
17 | CDS | 46,408,513 | 46,408,706 |
16 | CDS | 46,410,276 | 46,410,368 |
15 | CDS | 46,417,913 | 46,418,052 |
14 | CDS | 46,433,474 | 46,433,628 |
13 | CDS | 46,434,849 | 46,435,037 |
12 | CDS | 46,443,488 | 46,443,598 |
11 | CDS | 46,493,608 | 46,493,708 |
10 | CDS | 46,494,124 | 46,494,204 |
9 | CDS | 46,508,191 | 46,508,370 |
8 | CDS | 46,512,727 | 46,512,813 |
7 | CDS | 46,541,945 | 46,543,398 |
6 | CDS | 46,543,975 | 46,544,041 |
5 | CDS | 46,545,604 | 46,545,776 |
4 | CDS | 46,547,113 | 46,547,296 |
3 | CDS | 46,547,817 | 46,547,875 |
2 | CDS | 46,548,246 | 46,548,380 |
Other genome
Genome | Chromosome | Start | End | Links |
---|---|---|---|---|
hg19 | chr11 | 46,417,964 | 46,615,573 | Link |
CDS sequence
ATGAAGGTTGTCCCAGAAAAGAATGCTGTCCGGATACTCTGGGGGCGAGAACGGGGTGCTCGGGCCATGGGAGCTCAGCGGCTTCTGCAGGAGCTGGTAGAAGATAAAACCCGGTGGATGAAATGGGAGGGCAAGAGAGTAGAACTGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGACAGGACTCTCTTAGCCTCCACCCATGTGAACCATAATATCTATATTACGGAGGTGAAGACTGGCAAGTGTGTTCATTCCCTGATTGGACACCGCCGTACTCCATGGTGTGTCACTTTTCATCCCACCATCTCAGGCCTTATTGCTTCTGGCTGCCTAGATGGGGAGGTTAGGATTTGGGATTTACACGGTGGCAGTGAAAGCTGGTTCACAGATAGCAACAATGCCATTGCCTCCCTGGCTTTCCACCCTACGGCTCAGCTCCTGCTGATTGCCACTGCCAATGAGATCCACTTCTGGGACTGGAGTCGACGGGAACCCTTTGCTGTGGTGAAGACAGCTAGTGAGATGGAACGGGTCCGTCTGGTGAGATTTGATCCACTTGGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAACAGGGTGATGACGAACCAGAGATCCCCATAGATGGAACAGAATTATCCCACTACCGTCAGCGTGCCCTCCTGCAATCACAGCCAGTTCGCCGGACGCCTCTCCTCCACAATTTCCTGCACATGCTGTCCTCCCGCTCTTCTGGCATCCAGGTGGGAGAGCAAAGCACAGTGCAAGATTCTGCTACCCCCTCACCCCCACCGCCTCCCCCTCAGCCCTCCACGGAGCGCCCCAGGACTTCCGCTTACATCAGGCTCCGACAGCGGGTCAGTTACCCCACAGCTGAGTGCTGCCAGCACCTTGGGATCCTGTGCCTTTGCAGCCGCTGCTCTGGCACTCGAGTTCCTTCCCTCTTGCCACACCAGGACAGTGTCCCCCCTGCTTCTGCCAGAGCTACTACCCCTTCCTTTTCTTTTGTACAGACCGAGCCCTTCCATCCCCCGGAGCAGGCCTCGTCAACGCAGCAGGACCAGGGCCTCCTGAACCGGCCGTCTGCCTTCAGTACAGTCCAGAGCAGCACTGCCGGCAACACGCTCCGCAACCTCAGTCTGGGTCCTACCCGCCGCTCTTTGGGAGGGCCTCTGTCTAGCCACCCTTCTAGGTATCACCGAGAAATAGCTCCTGGGTTGACAGGATCTGAGTGGACCCGGACAGTACTCAGTCTGAACTCCCGCTCTGAGGCGGAATCCATGCCCCCGCCCAGAACCAGTGCCTCTTCGGTGAGTTTGCTGTCTGTGCTGAGACAGCAGGAAGGTGGCTCTCAGGCATCTGTGTACACTTCAGCCACAGAAGGGAGGGGTTTTCCGGCATCAGGGTTGGCAACTGAGTCAGATGGAGGGAATGGCTCCAGCCAAAACAACTCGGGCAGCATTCGCCATGAGCTTCAGTGTGACCTGAGACGCTTCTTTCTGGAGTATGACCGGCTTCAGGAGCTGGATCAGAGCCTGAGTGGGGAAGCTCCCCAGACCCAACAGGCCCAGGAAATGCTCAACAATAACATTGAATCTGAGAGGCCAGGCCCTTCCCACCAGCCCACCCCACACAGCAGTGAGAACAACTCCAACCTGTCCCGTGGCCACCTGAATCGCTGTCGTGCTTGCCACAATCTCCTGACCTTCAACAACGATACCCTGCGCTGGGAAAGAACCACACCTAACTACTCCTCTGGCGAGGCTAGTTCCTCTTGGCAGGTCCCCAGCTCCTTTGAGAGTGTGCCATCAAGTGGCAGCCAGTTGCCACCTCTCGAGCGGACTGAGGGCCAAACGCCCAGCTCCAGCAGGCTGGAGTTGAGCAGCTCTGCTAGTCCGCAGGAGGAGAGGACTGTGGGGGTGGCCTTTAACCAGGAGACAGGCCACTGGGAAAGAATTTACACCCAGTCCAGCAGATCTGGAACTGTGTCACAGGAGGCCTTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGGAGGAGGCTGCTGGAATCTTCCCTCATTTCATTATCCCGTTATGATGGAGCAGGATCCAGAGAGCACCCAATTTACCCAGACCCAGCGAGATTATCTCCTGCTGCATACTACGCCCAGAGGATGATCCAGTATCTCTCACGGAGAGACAGTATTCGCCAGCGCTCCATGCGCTACCAACAGAACCGTCTCCGTTCTTCCACCTCCTCCTCTTCCTCAGACAACCAGGGTCCATCAGTAGAGGGAACCGACTTGGAATTTGAGGACTTTGAGGACAATGGTGACAGATCCAGGCACCGAGCTCCACGCAATGCCCGGATGTCTGCACCTTCGCTTGGACGCTTTGTCCCAAGGCGTTTCTTGCTGCCTGAGTACTTGCCTTATGCTGGGATTTTTCATGAACGTGGACAGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGCAGGGGCAGTGATCGGTGATGGACAGTCTGCTGTGGCCAGTAACATTGCCAATACTACCTACCGGCTCCAGTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAATGCTTCCGTGAATGTGCTGGTGCAGAACTGCAAGATCTACAATGATGCCAGCTGTGACATTTCTGCAGATGGCCAGCTCCTGGCAGCTTTCATCCCCAGCAGCCAGAGGGGCTTTCCTGATGAAGGCATCCTGGCAGTGTACTCCCTGGCCCCCCATAACCTGGGCGAAATGCTCTACACCAAGCGATTTGGTCCCAATGCCATTTCGGTGAGCCTGTCCCCAATGGGCAGATATGTAATGGTGGGCTTGGCCTCACGAAGGATCCTGCTGCACCCCTCCACAGAGCACATGGTGGCCCAGGTCTTCAGGCTGCAACAGGCCCATGGTGGAGAGACCTCCATGAGGAGAGTTTTCAACGTCCTTTATCCCATGCCTGCCGACCAGCGGAGACATGTCAGTATCAACTCTGCCCGTTGGCTGCCTGAGCCAGGGCTTGGCTTGGCCTATGGTACTAACAAAGGAGACCTGGTGATCTGCCGACCAGAGGCCTTAAACTCTGGTGTTGAGTACTACTGGGACCAGCTGAACGAGACGGTCTTCACTGTCCATTCCAACAGCAGGAGCAGCGAGCGGCCTGGAACCAGCAGAGCCACATGGAGGACAGACAGAGACATGGGGCTGATGAATGCCATTGGGCTTCAGCCCCGGAACCCTGCCACCTCAGTGACATCTCAGGGCACCCAGACTCTGGCCCTTCAGCTGCAGAATGCCGAAACACAGACTGAGAGGGAGGTGCCGGAGCCAGGGACAGCCGCCTCAGGTCCTGGTGAAGGTGAGGGTTCAGAGTATGGTGCCAGTGGAGAAGATGCGCTCAGCAGGATCCAGAGGCTGATGGCGGAGGGCGGCATGACAGCCGTGGTGCAGCGGGAGCAGAGCACCACCATGGCCTCCATGGGCGGCTTCGGCAACAACATCATCGTCAGCCACCGCATTCACCGCAGCTCTCAGACGGGCACTGAACCTGGTGCCGCCCACACCTCCTCACCCCAGCCCTCCACCTCTCGGGGACTGCTCCCAGAGGCCGGGCAACTGGCAGAGCGAGGCCTAAGCCCCCGGACAGCTTCCTGGGACCAGCCTGGTACCCCTGGGCGGGAGCCAACCCAGCCAACCCTGCCCTCTTCCTCCCCTGTCCCCATTCCTGTTTCCCTTCCCAGCGCTGAGGGACCAACCCTCCACTGCGAGTTGACCAATAACAACCACCTTCTGGATGGTGGCAGCAGCAGGGGGGACGCTGCAGGCCCTAGGGGAGAACCACGGAACAGGTAG
Amino sequence
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLAFSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEVRIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEMERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLLHNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAECCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEPGLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWRTDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEGSEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGAAHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSLPSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR*