Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Experimental Liver Cirrhosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG: Kyoto Encyclopedia of Genes and Genomes | KEGG |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
5. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1192606 | PMID:1459997 | PMID:2164460 | PMID:3025077 | PMID:3382669 | PMID:3663711 | PMID:6463589 | PMID:7327557 | PMID:7585456 | PMID:8550579 | PMID:8889548 | PMID:10508780 |
PMID:11157797 | PMID:11368412 | PMID:12012344 | PMID:12204678 | PMID:12477932 | PMID:15117945 | PMID:15489334 | PMID:15616553 | PMID:16289162 | PMID:16803681 | PMID:16831876 | PMID:18344682 |
PMID:19413286 | PMID:20237496 | PMID:20877624 | PMID:21044950 | PMID:21653829 | PMID:21832049 | PMID:21873635 | PMID:21988832 | PMID:23376485 | PMID:23824909 | PMID:24671236 | PMID:25645869 |
PMID:26344197 | PMID:26552067 | PMID:26914966 | PMID:27696457 | PMID:27935136 | PMID:28330616 | PMID:28515276 | PMID:29128334 | PMID:29180619 | PMID:29385039 | PMID:29568061 | PMID:29950256 |
PMID:30455355 | PMID:30862715 | PMID:31091453 | PMID:31586073 | PMID:31950832 | PMID:32296183 | PMID:32427856 | PMID:32687490 | PMID:33001583 | PMID:33545068 | PMID:33725370 | PMID:33961781 |
PMID:34709727 | PMID:35140242 | PMID:35256949 | PMID:35384245 | PMID:35446349 | PMID:35831314 | PMID:35944360 | PMID:36215168 | PMID:36244648 | PMID:38113892 |
HAGH (Homo sapiens - human) |
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Hagh (Mus musculus - house mouse) |
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Hagh (Rattus norvegicus - Norway rat) |
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Hagh (Chinchilla lanigera - long-tailed chinchilla) |
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LOC100992459 (Pan paniscus - bonobo/pygmy chimpanzee) |
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HAGH (Canis lupus familiaris - dog) |
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Hagh (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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HAGH (Sus scrofa - pig) |
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HAGH (Chlorocebus sabaeus - green monkey) |
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Hagh (Heterocephalus glaber - naked mole-rat) |
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Variants in HAGH
16 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 | copy number gain | See cases [RCV000052367] | Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 | copy number gain | See cases [RCV000052368] | Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 | copy number gain | See cases [RCV000052370] | Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3 | copy number gain | See cases [RCV000052373] | Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3 | copy number gain | See cases [RCV000052375] | Chr16:1278821..1919148 [GRCh38] Chr16:1328822..1969149 [GRCh37] Chr16:1268823..1909150 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3 | copy number gain | See cases [RCV000052377] | Chr16:1816283..2020966 [GRCh38] Chr16:1866284..2070967 [GRCh37] Chr16:1806285..2010968 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 | copy number loss | See cases [RCV000053253] | Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 | copy number gain | See cases [RCV000133780] | Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 | copy number gain | See cases [RCV000136687] | Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 | copy number loss | See cases [RCV000137826] | Chr16:46722..1867327 [GRCh38] Chr16:96722..1917328 [GRCh37] Chr16:36722..1857329 [NCBI36] Chr16:16p13.3 |
pathogenic |
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 | copy number gain | See cases [RCV000139166] | Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12 |
pathogenic |
GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1 | copy number loss | See cases [RCV000141133] | Chr16:1754785..1816283 [GRCh38] Chr16:1804786..1866284 [GRCh37] Chr16:1744787..1806285 [NCBI36] Chr16:16p13.3 |
benign |
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 | copy number gain | See cases [RCV000143710] | Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 | copy number gain | Breast ductal adenocarcinoma [RCV000207326] | Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3 | copy number gain | See cases [RCV000240428] | Chr16:1860861..2070554 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) | copy number gain | See cases [RCV000446555] | Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 | copy number gain | See cases [RCV000445663] | Chr16:97133..5122974 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 | copy number gain | See cases [RCV000510815] | Chr16:643377..3125125 [GRCh37] Chr16:16p13.3 |
uncertain significance |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 | copy number gain | See cases [RCV000512194] | Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 | copy number gain | See cases [RCV000510698] | Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 | copy number loss | not provided [RCV000683741] | Chr16:85880..1875694 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 | copy number gain | not provided [RCV000683742] | Chr16:85880..3216551 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 | copy number gain | not provided [RCV000683745] | Chr16:1505184..4415346 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1 | copy number loss | not provided [RCV000683746] | Chr16:1734363..2285561 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 | copy number gain | not provided [RCV000683743] | Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3 | copy number gain | not provided [RCV000738986] | Chr16:1807896..2311160 [GRCh37] Chr16:16p13.3 |
benign |
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3 | copy number gain | not provided [RCV000738989] | Chr16:1813658..2319717 [GRCh37] Chr16:16p13.3 |
benign |
NC_000016.10:g.(?_1523498)_(2064447_?)del | deletion | Tuberous sclerosis 2 [RCV001032344] | Chr16:1573499..2114448 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:109978-4316797) | copy number gain | Chromosome 16p13.3 duplication syndrome [RCV000767731] | Chr16:109978..4316797 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2115656_?)del | deletion | Tuberous sclerosis 2 [RCV000811345] | Chr16:624055..2115656 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3 | copy number gain | not provided [RCV000845877] | Chr16:1727095..1947413 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 | copy number loss | not provided [RCV000849039] | Chr16:85880..2053328 [GRCh37] Chr16:16p13.3 |
pathogenic |
Single allele | inversion | Hereditary cancer-predisposing syndrome [RCV000850149] | Chr16:1566500..2119769 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_624055)_(2550979_?)dup | duplication | Idiopathic generalized epilepsy [RCV001033790] | Chr16:624055..2550979 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_624055)_(2148005_?)del | deletion | Tuberous sclerosis 2 [RCV001033183] | Chr16:624055..2148005 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_1203718)_(2185710_?)del | deletion | Tuberous sclerosis 2 [RCV001033886] | Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 | copy number gain | not provided [RCV001537890] | Chr16:84485..5251013 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 | copy number gain | not provided [RCV001259749] | Chr16:85880..5249457 [GRCh37] Chr16:16p13.3 |
pathogenic |
NC_000016.9:g.(?_624055)_(2153916_?)dup | duplication | Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] | Chr16:624055..2153916 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1847662-2653144) | copy number gain | not specified [RCV002052502] | Chr16:1847662..2653144 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3 | copy number gain | not provided [RCV001827737] | Chr16:1830141..2592737 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(5971108_?)dup | duplication | Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] | Chr16:256302..5971108 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(4852572_?)dup | duplication | Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] | Chr16:256302..4852572 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NC_000016.9:g.(?_256302)_(1918176_?)del | deletion | not provided [RCV003119703] | Chr16:256302..1918176 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 | copy number gain | See cases [RCV002292215] | Chr16:111043..6627459 [GRCh37] Chr16:16p13.3 |
pathogenic |
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3 | copy number gain | not provided [RCV002473769] | Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.850G>A (p.Ala284Thr) | single nucleotide variant | Inborn genetic diseases [RCV003287645] | Chr16:1809360 [GRCh38] Chr16:1859361 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.560C>T (p.Ala187Val) | single nucleotide variant | Inborn genetic diseases [RCV002859995] | Chr16:1817253 [GRCh38] Chr16:1867254 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.136G>A (p.Glu46Lys) | single nucleotide variant | Inborn genetic diseases [RCV002865258] | Chr16:1822978 [GRCh38] Chr16:1872979 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.202G>C (p.Asp68His) | single nucleotide variant | Inborn genetic diseases [RCV002902282] | Chr16:1822912 [GRCh38] Chr16:1872913 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.467C>A (p.Pro156Gln) | single nucleotide variant | Inborn genetic diseases [RCV002901569] | Chr16:1819189 [GRCh38] Chr16:1869190 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.695G>A (p.Arg232His) | single nucleotide variant | Inborn genetic diseases [RCV002970193] | Chr16:1816945 [GRCh38] Chr16:1866946 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.724C>T (p.Arg242Trp) | single nucleotide variant | Inborn genetic diseases [RCV002945634] | Chr16:1816916 [GRCh38] Chr16:1866917 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.259G>A (p.Ala87Thr) | single nucleotide variant | Inborn genetic diseases [RCV002912368] | Chr16:1822355 [GRCh38] Chr16:1872356 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_005326.6(HAGH):c.763G>A (p.Gly255Arg) | single nucleotide variant | Inborn genetic diseases [RCV002738630] | Chr16:1809818 [GRCh38] Chr16:1859819 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.88C>G (p.Leu30Val) | single nucleotide variant | Inborn genetic diseases [RCV002748677] | Chr16:1823026 [GRCh38] Chr16:1873027 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.700G>A (p.Val234Met) | single nucleotide variant | Inborn genetic diseases [RCV002920202] | Chr16:1816940 [GRCh38] Chr16:1866941 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.754T>A (p.Tyr252Asn) | single nucleotide variant | Inborn genetic diseases [RCV003204720] | Chr16:1809827 [GRCh38] Chr16:1859828 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1 | copy number loss | not provided [RCV003222891] | Chr16:811896..2130379 [GRCh37] Chr16:16p13.3 |
pathogenic |
NM_005326.6(HAGH):c.274G>A (p.Gly92Arg) | single nucleotide variant | Inborn genetic diseases [RCV003178858] | Chr16:1822340 [GRCh38] Chr16:1872341 [GRCh37] Chr16:16p13.3 |
uncertain significance |
NM_005326.6(HAGH):c.409A>G (p.Ile137Val) | single nucleotide variant | Inborn genetic diseases [RCV003381422] | Chr16:1819920 [GRCh38] Chr16:1869921 [GRCh37] Chr16:16p13.3 |
likely benign |
NM_005326.6(HAGH):c.431A>C (p.Gln144Pro) | single nucleotide variant | Inborn genetic diseases [RCV003374206] | Chr16:1819898 [GRCh38] Chr16:1869899 [GRCh37] Chr16:16p13.3 |
uncertain significance |
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3 | copy number gain | not provided [RCV003485080] | Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3 |
likely pathogenic |
GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3 | copy number gain | not provided [RCV003485081] | Chr16:1505227..1960381 [GRCh37] Chr16:16p13.3 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RH78672 |
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RH79938 |
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RH36497 |
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RH66746 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2357 | 2880 | 1713 | 601 | 1523 | 461 | 4162 | 2090 | 3525 | 396 | 1352 | 1577 | 154 | 1 | 1153 | 2739 | 5 | 2 |
Low | 82 | 111 | 13 | 23 | 426 | 4 | 195 | 107 | 209 | 23 | 108 | 36 | 21 | 51 | 49 | 1 | ||
Below cutoff | 2 |
RefSeq Transcripts | NG_023249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001040427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001286249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001363914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_005326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011522470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024450249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054380199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC012180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AE006639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK054943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK290155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK299993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK308825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY576804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC002627 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG703401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI758286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM982247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU176541 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB502986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DR006636 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OQ240960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X90999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000397353 ⟹ ENSP00000380511 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000397356 ⟹ ENSP00000380514 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000455446 ⟹ ENSP00000406552 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000564445 ⟹ ENSP00000455355 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000564518 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000565097 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000566644 ⟹ ENSP00000457986 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000566709 ⟹ ENSP00000455422 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000567190 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000567398 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000569339 ⟹ ENSP00000455970 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000569700 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001040427 ⟹ NP_001035517 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001286249 ⟹ NP_001273178 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363912 ⟹ NP_001350841 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001363914 ⟹ NP_001350843 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_005326 ⟹ NP_005317 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011522470 ⟹ XP_011520772 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054380199 ⟹ XP_054236174 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001035517 | (Get FASTA) | NCBI Sequence Viewer |
NP_001273178 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350841 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001350843 | (Get FASTA) | NCBI Sequence Viewer | |
NP_005317 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011520772 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236174 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH00840 | (Get FASTA) | NCBI Sequence Viewer |
AAH02627 | (Get FASTA) | NCBI Sequence Viewer | |
AAK61294 | (Get FASTA) | NCBI Sequence Viewer | |
BAF82844 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60445 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61219 | (Get FASTA) | NCBI Sequence Viewer | |
BAG61813 | (Get FASTA) | NCBI Sequence Viewer | |
CAA62483 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85609 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85610 | (Get FASTA) | NCBI Sequence Viewer | |
EAW85611 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000380511 | ||
ENSP00000380511.2 | |||
ENSP00000380514 | |||
ENSP00000380514.3 | |||
ENSP00000406552 | |||
ENSP00000406552.2 | |||
ENSP00000455355.1 | |||
ENSP00000455422 | |||
ENSP00000455422.1 | |||
ENSP00000455970.1 | |||
ENSP00000457986.1 | |||
GenBank Protein | Q16775 | (Get FASTA) | NCBI Sequence Viewer |
WDE40366 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001035517 ⟸ NM_001040427 |
- Peptide Label: | isoform 2 |
- UniProtKB: | H3BPK3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_005317 ⟸ NM_005326 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | B4DRA7 (UniProtKB/Swiss-Prot), B4DP33 (UniProtKB/Swiss-Prot), A8K290 (UniProtKB/Swiss-Prot), E7EN93 (UniProtKB/Swiss-Prot), Q16775 (UniProtKB/Swiss-Prot), B4DT01 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001273178 ⟸ NM_001286249 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | Q16775 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011520772 ⟸ XM_011522470 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q16775 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | NP_001350841 ⟸ NM_001363912 |
- Peptide Label: | isoform 4 precursor |
- UniProtKB: | B4DT01 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001350843 ⟸ NM_001363914 |
- Peptide Label: | isoform 5 |
- UniProtKB: | H3BPQ4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000406552 ⟸ ENST00000455446 |
RefSeq Acc Id: | ENSP00000455355 ⟸ ENST00000564445 |
RefSeq Acc Id: | ENSP00000457986 ⟸ ENST00000566644 |
RefSeq Acc Id: | ENSP00000455422 ⟸ ENST00000566709 |
RefSeq Acc Id: | ENSP00000380514 ⟸ ENST00000397356 |
RefSeq Acc Id: | ENSP00000380511 ⟸ ENST00000397353 |
RefSeq Acc Id: | ENSP00000455970 ⟸ ENST00000569339 |
RefSeq Acc Id: | XP_054236174 ⟸ XM_054380199 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q16775-F1-model_v2 | AlphaFold | Q16775 | 1-308 | view protein structure |
RGD ID: | 6793171 | ||||||||
Promoter ID: | HG_KWN:22732 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001040427, NM_005326, UC002CNB.1, UC010BRY.1 | ||||||||
Position: |
|
RGD ID: | 6852394 | ||||||||
Promoter ID: | EP74005 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_HAGH | ||||||||
Description: | Hydroxyacyl glutathione hydrolase. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Mammalian gene collection (MGC) full-length cDNA cloning | ||||||||
Position: |
|
RGD ID: | 7230947 | ||||||||
Promoter ID: | EPDNEW_H21219 | ||||||||
Type: | initiation region | ||||||||
Name: | HAGH_1 | ||||||||
Description: | hydroxyacylglutathione hydrolase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21221 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7230951 | ||||||||
Promoter ID: | EPDNEW_H21221 | ||||||||
Type: | initiation region | ||||||||
Name: | HAGH_2 | ||||||||
Description: | hydroxyacylglutathione hydrolase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H21219 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4805 | AgrOrtholog |
COSMIC | HAGH | COSMIC |
Ensembl Genes | ENSG00000063854 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000397353 | ENTREZGENE |
ENST00000397353.6 | UniProtKB/Swiss-Prot | |
ENST00000397356 | ENTREZGENE | |
ENST00000397356.8 | UniProtKB/Swiss-Prot | |
ENST00000455446 | ENTREZGENE | |
ENST00000455446.6 | UniProtKB/Swiss-Prot | |
ENST00000564445.5 | UniProtKB/TrEMBL | |
ENST00000566644.5 | UniProtKB/TrEMBL | |
ENST00000566709 | ENTREZGENE | |
ENST00000566709.5 | UniProtKB/TrEMBL | |
ENST00000569339.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.60.15.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000063854 | GTEx |
HGNC ID | HGNC:4805 | ENTREZGENE |
Human Proteome Map | HAGH | Human Proteome Map |
InterPro | Clx_II_MBL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HAGH_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Hydroxyacylglutathione_Hdrlase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Metallo-B-lactamas | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RibonucZ/Hydroxyglut_hydro | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:3029 | UniProtKB/Swiss-Prot |
NCBI Gene | 3029 | ENTREZGENE |
OMIM | 138760 | OMIM |
PANTHER | BETA LACTAMASE DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HYDROXYACYLGLUTATHIONE HYDROLASE, MITOCHONDRIAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | HAGH_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Lactamase_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA29179 | PharmGKB |
PIRSF | Glx | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | Lactamase_B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF56281 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K290 | ENTREZGENE |
B4DP33 | ENTREZGENE | |
B4DRA7 | ENTREZGENE | |
B4DT01 | ENTREZGENE, UniProtKB/TrEMBL | |
E7EN93 | ENTREZGENE | |
GLO2_HUMAN | UniProtKB/Swiss-Prot | |
H3BPK3 | ENTREZGENE, UniProtKB/TrEMBL | |
H3BPQ4 | ENTREZGENE, UniProtKB/TrEMBL | |
H3BQW8_HUMAN | UniProtKB/TrEMBL | |
H3BV79_HUMAN | UniProtKB/TrEMBL | |
Q16775 | ENTREZGENE | |
UniProt Secondary | A8K290 | UniProtKB/Swiss-Prot |
B4DP33 | UniProtKB/Swiss-Prot | |
B4DRA7 | UniProtKB/Swiss-Prot | |
E7EN93 | UniProtKB/Swiss-Prot |