varfish-org / hgvs-rs

A port of biocommons/hgvs to the Rust programming language
Apache License 2.0
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Port over access to the UTA data structure #10

Closed holtgrewe closed 1 year ago

holtgrewe commented 1 year ago

Some notes on extracting sub sets for the tests.

-- meta & origin: use all

uta=> set schema 'uta_20210129';

uta=> select * from gene where gene.hgnc in ('OMA1', 'OPA1');
-[ RECORD 1 ]--------------------------------------------------------
hgnc    | OPA1
maploc  | 3q29
descr   | OPA1 mitochondrial dynamin like GTPase
summary | OPA1 mitochondrial dynamin like GTPase
aliases | {BERHS,MGM1,MTDPS14,NPG,NTG,largeG}
added   | 2014-02-10 22:59:21.153414
-[ RECORD 2 ]--------------------------------------------------------
hgnc    | OMA1
maploc  | 1p32.2-p32.1
descr   | OMA1 zinc metallopeptidase
summary | OMA1 zinc metallopeptidase
aliases | {2010001O09Rik,DAB1,MPRP-1,MPRP1,YKR087C,ZMPOMA1,peptidase}
added   | 2014-02-10 22:59:21.153414

uta=> select * from transcript where hgnc in ('OMA1', 'OPA1');
-[ RECORD 1 ]---------------------------------
ac          | NM_130831.2
origin_id   | 1
hgnc        | OPA1
cds_start_i | 234
cds_end_i   | 3009
cds_md5     | 809b0514f1db1283c8d833512779f240
added       | 2014-02-11 00:00:18.453854
-[ RECORD 2 ]---------------------------------
ac          | NM_130832.2
origin_id   | 1
hgnc        | OPA1
cds_start_i | 234
cds_end_i   | 3063
cds_md5     | 6ecdbbd7e1931c13e9846dba6f003b8f
added       | 2014-02-11 00:00:18.453854
[...]

uta=> select * from seq_anno where ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1'));
-[ RECORD 1 ]----------------------------------------------------------------------------------------------------------------------------------
seq_anno_id | 198920
seq_id      | 0834c1d6a05e18602acaeeade3cabd19
origin_id   | 1
ac          | NM_145243.4
descr       | 
added       | 2015-08-25 22:31:17.825063
-[ RECORD 2 ]----------------------------------------------------------------------------------------------------------------------------------
seq_anno_id | 78392
seq_id      | 03e2faccc37f39f0ec2a39abef1858d0
origin_id   | 1
ac          | NM_130837.2
descr       | Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA
added       | 2014-02-10 21:47:12.222509
[...]

uta=> select seq_id, len from seq where sequta=> select seq_id, len from seq where seq_id in (select seq_id from seq_anno where ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1')));
-[ RECORD 1 ]----------------------------
seq_id | 6f357007639453784b0ee64dd22ab84a
len    | 6156
-[ RECORD 2 ]----------------------------
seq_id | a45be8f1e2939958fb3b7e1dabc03556
len    | 631
[...]

uta=> select * from associated_accessions where tx_ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1'));
-[ RECORD 1 ]-----------+------------------------------
associated_accession_id | 2987826
tx_ac                   | NM_130832.2
pro_ac                  | NP_570845.1
origin                  | NCBI
added                   | 2021-02-03 19:45:47.805895+00
-[ RECORD 2 ]-----------+------------------------------
associated_accession_id | 2990107
tx_ac                   | NM_145243.4
pro_ac                  | NP_660286.1
origin                  | NCBI
added                   | 2021-02-03 19:45:47.805895+00
[...]

uta=> select * from exon_set where tx_ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1'));
-[ RECORD 1 ]--+---------------------------
exon_set_id    | 725664
tx_ac          | NM_145243.4
alt_ac         | NC_000001.10
alt_strand     | -1
alt_aln_method | blat
added          | 2015-08-26 06:25:53.470029
-[ RECORD 2 ]--+---------------------------
exon_set_id    | 371559
tx_ac          | NM_145243.4
alt_ac         | NC_000001.10
alt_strand     | -1
alt_aln_method | splign
added          | 2015-08-25 23:05:15.807192
[...]

uta=> select * from exon where exon_set_id in (select exon_set_id from exon_set where tx_ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1')));
-[ RECORD 1 ]----------
exon_id     | 2558841
exon_set_id | 257788
start_i     | 193273731
end_i       | 193273997
ord         | 0
name        | 
-[ RECORD 2 ]----------
exon_id     | 2558842
exon_set_id | 257788
start_i     | 193295335
end_i       | 193295654
ord         | 1
name        | 
[...]

uta=> select * from exon_aln where tx_exon_id in (select exon_id from exon where exon_set_id in (select exon_set_id from exon_set where tx_ac in (select ac from transcript where hgnc in ('OMA1', 'OPA1'))));
-[ RECORD 1 ]----------------------------------------------
exon_aln_id | 6134232
tx_exon_id  | 8573936
alt_exon_id | 8909645
cigar       | 100=
added       | 2021-02-03 08:16:45.086209
tx_aseq     | 
alt_aseq    | 
-[ RECORD 2 ]----------------------------------------------
exon_aln_id | 6134254
tx_exon_id  | 8573936
alt_exon_id | 9638401
cigar       | 100=
added       | 2021-02-03 08:16:50.127081
tx_aseq     | 
alt_aseq    | 
[...]