|
Fusion gene ID: 3443 |
FusionGeneSummary for ATP6V0A4_TM4SF20 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATP6V0A4_TM4SF20 | Fusion gene ID: 3443 | Hgene | Tgene | Gene symbol | ATP6V0A4 | TM4SF20 | Gene ID | 50617 | 79853 |
Gene name | ATPase H+ transporting V0 subunit a4 | transmembrane 4 L six family member 20 | |
Synonyms | A4|ATP6N1B|ATP6N2|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 | PRO994|SLI5|TCCE518 | |
Cytomap | 7q34 | 2q36.3 | |
Type of gene | protein-coding | protein-coding | |
Description | V-type proton ATPase 116 kDa subunit a isoform 4V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1BATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic ac | transmembrane 4 L6 family member 20 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9HBG4 | Q53R12 | |
Ensembl transtripts involved in fusion gene | ENST00000393054, ENST00000310018, ENST00000353492, ENST00000483139, | ENST00000304568, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: ATP6V0A4 [Title/Abstract] AND TM4SF20 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | TM4SF20 | GO:0045861 | negative regulation of proteolysis | 25310401|27499293 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | UCS | TCGA-N8-A56S-01A | ATP6V0A4 | chr7 | 138406642 | - | TM4SF20 | chr2 | 228235696 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000393054 | ENST00000304568 | ATP6V0A4 | chr7 | 138406642 | - | TM4SF20 | chr2 | 228235696 | - |
Frame-shift | ENST00000310018 | ENST00000304568 | ATP6V0A4 | chr7 | 138406642 | - | TM4SF20 | chr2 | 228235696 | - |
In-frame | ENST00000353492 | ENST00000304568 | ATP6V0A4 | chr7 | 138406642 | - | TM4SF20 | chr2 | 228235696 | - |
intron-3CDS | ENST00000483139 | ENST00000304568 | ATP6V0A4 | chr7 | 138406642 | - | TM4SF20 | chr2 | 228235696 | - |
Top |
FusionProtFeatures for ATP6V0A4_TM4SF20 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ATP6V0A4 | TM4SF20 |
Part of the proton channel of the V-ATPase that isinvolved in normal vectorial acid transport into the urine by thekidney. {ECO:0000250}. | Polytopic transmembrane protein that inhibits regulatedintramembrane proteolysis (RIP) of CREB3L1, inhibiting itsactivation and the induction of collagen synthesis(PubMed:25310401, PubMed:27499293). In response to ceramide, whichalters TM4SF20 membrane topology, stimulates RIP activation ofCREB3L1 (PubMed:27499293). Ceramide reverses the direction throughwhich transmembrane helices are translocated into the endoplasmicreticulum membrane during translation of TM4SF20, this mechanismis called 'regulated alternative translocation' (RAT) andregulates the function of the transmembrane protein(PubMed:27499293). {ECO:0000269|PubMed:25310401,ECO:0000269|PubMed:27499293}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for ATP6V0A4_TM4SF20 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_882aa MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLP REMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRE RMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDL ITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSK TAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRY LILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYK MKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNA PLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEAIPATTM SLTARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPESFNLQWFFNDSCAPPTGFN |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_2646nt ATGGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAAGCTGCATATTGCTGTGTGGCTGAGCTCGGA GAGCTCGGATTGGTTCAGTTCAAAGATTTAAATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCA CTGGAGAGAATCCTCCGTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTGCTCGAGAAAAGCCCACTGACCCCGCTCCCA CGGGAAATGATTACCCTGGAGACTGTTCTAGAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGC TTCCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAGACGGAAACCAATTTAGCTGATGATTTCTTTACT GAGGACACTTCTGGCCTCCTGGAGTTGAAAGCAGTGCCTGCATATATGACCGGAAAGTTGGGGTTCATAGCCGGTGTGATCAACAGGGAG AGGATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAGTTCAGTGAGATGGACGCCCCTCTGGAGGAT CCTGTGACGAAAGAAGAAATTCAGAAGAACATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGAT GGGTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTGGAGAGCGTCAATGTGAGGCTGGAAGATTTA ATCACCGTCATAACACAAACAGAGTCTCACCGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAG AAGATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGTGTCATCGCCGAGATCTGGTTCCCGGTGGCA GATGCCACACGTATCAAGAGGGCACTGGAGCAAGGCATGGAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAA ACAGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTTGATGCCTATGGTGTCGGCAGCTACCGGGAG ATAAACCCAGCCCCCTACACCATCATCACTTTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTG GCTGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAGATTTGGAACACCTTCTTCCACGGGCGCTAT CTGATCCTACTTATGGGCATCTTCTCCATCTACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCT TGGAGTGTCCAACCCATGTTCAGAAACGGCACATGGAATACTCATGTAATGGAGGAAAGTCTATATCTGCAGCTGGACCCAGCCATACCA GGAGTGTATTTTGGAAATCCATACCCGTTTGGGATTGATCCGATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAA ATGAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTTTTCAATCACATATACTTCAGAAGAACTCTC AACATCATTCTGCAATTTATCCCTGAGATGATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGC TTTGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTTCTGTTTAACTACAGTGACTCTTCCAACGCA CCCCTCTACAAACATCAGCAAGAAGTCCAAAGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTT ATTCTTAGAGCCAGTCATCGGAAATCCCAGCTGCAGGCATCCAGGATCCAAGAAGATGCCACTGAGAACATTGAAGGTGATAGCTCCAGC CCTTCTAGCCGTTCTGGCCAGAGGACTTCTGCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAGGCCATTCCAGCAACAACAATG TCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAATGTTTCTTTCATCACTTTTCAGTGTGATCACAGTCATTGGTGCT CTGTATTGCATGCTGATATCCATCCAGGCTCTCTTAAAAGGTCCTCTCATGTGTAATTCTCCAAGCAACAGTAATGCCAATTGTGAATTT TCATTGAAAAACATCAGTGACATTCATCCAGAATCCTTCAACTTGCAGTGGTTTTTCAATGACTCTTGTGCACCTCCTACTGGTTTCAAT AAACCCACCAGTAACGACACCATGGCGAGTGGCTGGAGAGCATCTAGTTTCCACTTCGATTCTGAAGAAAACAAACATAGGCTTATCCAC TTCTCAGTATTTTTAGGTCTATTGCTTGTTGGAATTCTGGAGGTCCTGTTTGGGCTCAGTCAGATAGTCATCGGTTTCCTTGGCTGTCTG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_4302nt GCTGGAGGCTGTGCTGAGTGCCCGGTGCAGGTGAGCCGGTCCTGCGGAGTTGTGCCGAGTGCCTGCTGCAGACCGAGGCTGGGCCAAGAT GGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAAGCTGCATATTGCTGTGTGGCTGAGCTCGGAGA GCTCGGATTGGTTCAGTTCAAAGATTTAAATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCACT GGAGAGAATCCTCCGTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTGCTCGAGAAAAGCCCACTGACCCCGCTCCCACG GGAAATGATTACCCTGGAGACTGTTCTAGAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGCTT CCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAGACGGAAACCAATTTAGCTGATGATTTCTTTACTGA GGACACTTCTGGCCTCCTGGAGTTGAAAGCAGTGCCTGCATATATGACCGGAAAGTTGGGGTTCATAGCCGGTGTGATCAACAGGGAGAG GATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAGTTCAGTGAGATGGACGCCCCTCTGGAGGATCC TGTGACGAAAGAAGAAATTCAGAAGAACATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGATGG GTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTGGAGAGCGTCAATGTGAGGCTGGAAGATTTAAT CACCGTCATAACACAAACAGAGTCTCACCGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAGAA GATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGTGTCATCGCCGAGATCTGGTTCCCGGTGGCAGA TGCCACACGTATCAAGAGGGCACTGGAGCAAGGCATGGAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAAAC AGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTTGATGCCTATGGTGTCGGCAGCTACCGGGAGAT AAACCCAGCCCCCTACACCATCATCACTTTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTGGC TGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAGATTTGGAACACCTTCTTCCACGGGCGCTATCT GATCCTACTTATGGGCATCTTCTCCATCTACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCTTG GAGTGTCCAACCCATGTTCAGAAACGGCACATGGAATACTCATGTAATGGAGGAAAGTCTATATCTGCAGCTGGACCCAGCCATACCAGG AGTGTATTTTGGAAATCCATACCCGTTTGGGATTGATCCGATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAAAT GAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTTTTCAATCACATATACTTCAGAAGAACTCTCAA CATCATTCTGCAATTTATCCCTGAGATGATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGCTT TGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTTCTGTTTAACTACAGTGACTCTTCCAACGCACC CCTCTACAAACATCAGCAAGAAGTCCAAAGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTTAT TCTTAGAGCCAGTCATCGGAAATCCCAGCTGCAGGCATCCAGGATCCAAGAAGATGCCACTGAGAACATTGAAGGTGATAGCTCCAGCCC TTCTAGCCGTTCTGGCCAGAGGACTTCTGCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAGGCCATTCCAGCAACAACAATGTC CTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAATGTTTCTTTCATCACTTTTCAGTGTGATCACAGTCATTGGTGCTCT GTATTGCATGCTGATATCCATCCAGGCTCTCTTAAAAGGTCCTCTCATGTGTAATTCTCCAAGCAACAGTAATGCCAATTGTGAATTTTC ATTGAAAAACATCAGTGACATTCATCCAGAATCCTTCAACTTGCAGTGGTTTTTCAATGACTCTTGTGCACCTCCTACTGGTTTCAATAA ACCCACCAGTAACGACACCATGGCGAGTGGCTGGAGAGCATCTAGTTTCCACTTCGATTCTGAAGAAAACAAACATAGGCTTATCCACTT CTCAGTATTTTTAGGTCTATTGCTTGTTGGAATTCTGGAGGTCCTGTTTGGGCTCAGTCAGATAGTCATCGGTTTCCTTGGCTGTCTGTG TGGAGTCTCTAAGCGAAGAAGTCAAATTGTGTAGTTTAATGGGAATAAAATGTAAGTATCAGTAGTTTGAATTAATTTGAGAAGTACACT TGTTTTCAAAGTCATCTTTGAGATGATTTAAAAAATCAACCCTTCACGTAGAAAGCACGTTGTAAATGCATAACACTCTCATATCAGTGG TTGATTTGGGAAAGGTGGAGAGAATTTTCAATTAGTTTTGTGTTGTACTATTCAAATTTTTTACCTCTTCACTGTGTGTAGAGAAAGGAG AAGGGAAGGAGGATGAGAAGGAACGGAAGTCATCCTGAAAATAAAAGTACAGGACTTTTTTTTTTTTTTTTTGAGACAGGGTCTCAAAAA AGGCTGGAGTACAGTAGTACAGTGGTGCTATCTCAGCTTACTGCAGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCATCTCAGCCTCCC TAGTAGCTGGGACTACAGGTGCGTGCCACTATGCCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTTCCATATTGCCCAGGCTG GTCCCGAACTCATGGACTCAAGTGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGCGATTACAGGCATGAGCCATCGCGCCTAAAGGACAG GACCTTTTTATTGTATTTCTTTAAAGAATAAATACATAACCTGAATGCAATCAAGTCTTTAGATCTAATTCTCAGCTTGCAGGGAACACT AGGACAAATCCAAAAAGTGGGTCAGCGGGCACAGAATGGCCCAATTTTCAACAGGAAAATGTTATAAAAGAAAAATATTTTTGAGGGAAC TGTTATAGATTAAGAGAATAGAGGCATGTTTCAGCTAAACACATGTAAACTTTGTCAGAGATAATTGGGAGGAGTATGTAGAAGAATCGG ATTATTGTTAATTTTGGTAGGTCTGATAATGGTTTTATAGTATAAAGGCTGAGTACCCCTTATCCAAAATGATTAAGATCAGAAGTGTTT TGGCTTTCACATTTTTTTGGATTTTGGAATTTTGCCTATAATAATGAGACATCTTGGGGATGGGATGCAAGTCTAACCACAAAATTCATT TATGTCTCATACACACTTTGAACACCTGGCCTGAAGGTAATTTCACACAATATTTTAAATAACTTTGTGCATGAAACACAATTTTGACTG CATTTTGACTGCAACTCATCACATGAGGTCAGGTATGGAATTTTCCACTTGTGGTGTTACGTTACTGGCTCAAAAAGTTTTGGATCTCGG AGCATTCTGGATTTTGAATTTTTGGATTAGTGATGCTCAACCTGTATACAGAAATGTCCTCATTTTTAAAAAAAGAAATGCATATTTATA TGTTTTAAAATTACTTCAACCAAAAGCAACGGGGAGATGTTTACTGTTATATTTAGGTGACAGGTACATGGCAATTCATTATACCCTCCT ATTTTCCTATGTTTACATTATTCATTAATTAAAAAACAATACCTAGAAAAACCCAAGACTTTCAAAAGCTATTTTCTATATGTGCCAATC |
Top |
FusionGenePPI for ATP6V0A4_TM4SF20 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATP6V0A4 | PFKM, HYPK | TM4SF20 | VKORC1L1, MBOAT7, HSDL1, TMEM186, CAB39, TMEM43, CD74, RHOA, FAM210B, C10orf35, EBP, LMNA |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ATP6V0A4_TM4SF20 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ATP6V0A4_TM4SF20 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP6V0A4 | C1864498 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | 2 | CTD_human;ORPHANET;UNIPROT |