Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1690992 | PMID:1922019 | PMID:2271648 | PMID:2346490 | PMID:2537643 | PMID:2783133 | PMID:3180995 | PMID:7794280 | PMID:7851895 | PMID:7851896 | PMID:8003489 | PMID:9645429 |
PMID:10737800 | PMID:12477932 | PMID:16344560 | PMID:21873635 | PMID:23376485 | PMID:23469002 | PMID:25464930 | PMID:26186194 | PMID:28514442 | PMID:33961781 |
PSG4 (Homo sapiens - human) |
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PSG4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Variants in PSG4
39 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 | copy number gain | See cases [RCV000050787] | Chr19:42738643..43237158 [GRCh38] Chr19:43242795..43741310 [GRCh37] Chr19:47934635..48433150 [NCBI36] Chr19:19q13.2-13.31 |
benign |
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 | copy number loss | See cases [RCV000050788] | Chr19:42738643..43237158 [GRCh38] Chr19:43242795..43741310 [GRCh37] Chr19:47934635..48433150 [NCBI36] Chr19:19q13.2-13.31 |
benign |
NM_002780.4(PSG4):c.39C>T (p.Ile13=) | single nucleotide variant | Malignant melanoma [RCV000072188] | Chr19:43205498 [GRCh38] Chr19:43709650 [GRCh37] Chr19:48401490 [NCBI36] Chr19:19q13.31 |
not provided |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 | copy number gain | See cases [RCV000133888] | Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19q13.31(chr19:43025649-43237158)x3 | copy number gain | See cases [RCV000133731] | Chr19:43025649..43237158 [GRCh38] Chr19:43529801..43741310 [GRCh37] Chr19:48221641..48433150 [NCBI36] Chr19:19q13.31 |
benign |
GRCh38/hg38 19q13.2-13.31(chr19:42738659-43237562)x1 | copy number loss | See cases [RCV000134871] | Chr19:42738659..43237562 [GRCh38] Chr19:43242811..43741714 [GRCh37] Chr19:47934651..48433554 [NCBI36] Chr19:19q13.2-13.31 |
benign|likely benign|conflicting data from submitters |
GRCh38/hg38 19q13.31(chr19:43185848-43253584)x1 | copy number loss | See cases [RCV000136357] | Chr19:43185848..43253584 [GRCh38] Chr19:43690000..43757736 [GRCh37] Chr19:48381840..48449576 [NCBI36] Chr19:19q13.31 |
benign |
GRCh38/hg38 19q13.31(chr19:43187154-43253584)x1 | copy number loss | See cases [RCV000136385] | Chr19:43187154..43253584 [GRCh38] Chr19:43691306..43757736 [GRCh37] Chr19:48383146..48449576 [NCBI36] Chr19:19q13.31 |
benign |
GRCh38/hg38 19q13.31(chr19:43187154-43241966)x1 | copy number loss | See cases [RCV000136398] | Chr19:43187154..43241966 [GRCh38] Chr19:43691306..43746118 [GRCh37] Chr19:48383146..48437958 [NCBI36] Chr19:19q13.31 |
benign |
GRCh38/hg38 19q13.31(chr19:43204810-43253584)x1 | copy number loss | See cases [RCV000136440] | Chr19:43204810..43253584 [GRCh38] Chr19:43708962..43757736 [GRCh37] Chr19:48400802..48449576 [NCBI36] Chr19:19q13.31 |
benign |
GRCh38/hg38 19q13.2-13.31(chr19:42850107-43237158)x1 | copy number loss | See cases [RCV000137003] | Chr19:42850107..43237158 [GRCh38] Chr19:43354259..43741310 [GRCh37] Chr19:48046099..48433150 [NCBI36] Chr19:19q13.2-13.31 |
benign |
GRCh38/hg38 19q13.31(chr19:42918795-43237562)x1 | copy number loss | See cases [RCV000138832] | Chr19:42918795..43237562 [GRCh38] Chr19:43422947..43741714 [GRCh37] Chr19:48114787..48433554 [NCBI36] Chr19:19q13.31 |
likely benign |
GRCh38/hg38 19q13.31(chr19:43025676-43237562)x1 | copy number loss | See cases [RCV000139182] | Chr19:43025676..43237562 [GRCh38] Chr19:43529828..43741714 [GRCh37] Chr19:48221668..48433554 [NCBI36] Chr19:19q13.31 |
likely benign |
GRCh38/hg38 19q13.2-13.31(chr19:42850110-43237562)x1 | copy number loss | See cases [RCV000142838] | Chr19:42850110..43237562 [GRCh38] Chr19:43354262..43741714 [GRCh37] Chr19:48046102..48433554 [NCBI36] Chr19:19q13.2-13.31 |
likely benign |
GRCh38/hg38 19q13.31(chr19:42974981-43237562)x1 | copy number loss | See cases [RCV000142870] | Chr19:42974981..43237562 [GRCh38] Chr19:43479133..43741714 [GRCh37] Chr19:48170973..48433554 [NCBI36] Chr19:19q13.31 |
likely benign |
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x3 | copy number gain | See cases [RCV000148245] | Chr19:42738643..43237158 [GRCh38] Chr19:43242795..43741310 [GRCh37] Chr19:47934635..48433150 [NCBI36] Chr19:19q13.2-13.31 |
benign |
GRCh38/hg38 19q13.2-13.31(chr19:42738643-43237158)x1 | copy number loss | See cases [RCV000148247] | Chr19:42738643..43237158 [GRCh38] Chr19:43242795..43741310 [GRCh37] Chr19:47934635..48433150 [NCBI36] Chr19:19q13.2-13.31 |
benign |
Single allele | deletion | Gestational diabetes mellitus uncontrolled [RCV000161879] | Chr19:43372386..43802290 [GRCh37] Chr19:19q13.2-13.31 |
not provided |
Single allele | deletion | Normal pregnancy [RCV000161872] | Chr19:43270565..43699208 [GRCh37] Chr19:19q13.2-13.31 |
not provided |
Single allele | deletion | Normal pregnancy [RCV000161877] | Chr19:43371294..43699208 [GRCh37] Chr19:19q13.2-13.31 |
not provided |
Single allele | deletion | Preeclampsia [RCV000161880] | Chr19:43131532..43195056 [GRCh38] Chr19:43635684..43699208 [GRCh37] Chr19:19q13.31 |
not provided |
Single allele | deletion | Normal pregnancy [RCV000161881] | Chr19:43162545..43331618 [GRCh38] Chr19:43666697..43835770 [GRCh37] Chr19:19q13.31 |
not provided |
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 | copy number loss | See cases [RCV000240182] | Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32 |
pathogenic |
GRCh37/hg19 19q13.2-13.31(chr19:43238701-43788967)x3 | copy number gain | not provided [RCV000752700] | Chr19:43238701..43788967 [GRCh37] Chr19:19q13.2-13.31 |
benign |
GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3 | copy number gain | See cases [RCV000446399] | Chr19:42891150..43922624 [GRCh37] Chr19:19q13.2-13.31 |
uncertain significance |
NM_002780.5(PSG4):c.248T>C (p.Val83Ala) | single nucleotide variant | Inborn genetic diseases [RCV003250252] | Chr19:43204068 [GRCh38] Chr19:43708220 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.109A>G (p.Thr37Ala) | single nucleotide variant | Inborn genetic diseases [RCV003261581] | Chr19:43204207 [GRCh38] Chr19:43708359 [GRCh37] Chr19:19q13.31 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 | copy number gain | See cases [RCV000511289] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) | copy number gain | See cases [RCV000512296] | Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 | copy number gain | not provided [RCV000752439] | Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 | copy number gain | not provided [RCV000752444] | Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
Single allele | duplication | Schizophrenia [RCV000754211] | Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31 |
likely pathogenic |
GRCh37/hg19 19q13.31(chr19:43666697-43858317)x1 | copy number loss | not provided [RCV000740173] | Chr19:43666697..43858317 [GRCh37] Chr19:19q13.31 |
benign |
GRCh37/hg19 19q13.31(chr19:43676151-43856632)x1 | copy number loss | not provided [RCV000740174] | Chr19:43676151..43856632 [GRCh37] Chr19:19q13.31 |
benign |
NM_002780.5(PSG4):c.674C>T (p.Ala225Val) | single nucleotide variant | not provided [RCV001609630] | Chr19:43198032 [GRCh38] Chr19:43702184 [GRCh37] Chr19:19q13.31 |
benign |
NM_002780.5(PSG4):c.450C>T (p.Ser150=) | single nucleotide variant | not provided [RCV000895631] | Chr19:43198256 [GRCh38] Chr19:43702408 [GRCh37] Chr19:19q13.31 |
benign |
NM_002780.5(PSG4):c.113T>C (p.Ile38Thr) | single nucleotide variant | Inborn genetic diseases [RCV003288866] | Chr19:43204203 [GRCh38] Chr19:43708355 [GRCh37] Chr19:19q13.31 |
uncertain significance |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 | copy number gain | not provided [RCV000845733] | Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
NM_002780.5(PSG4):c.823C>T (p.Leu275=) | single nucleotide variant | not provided [RCV000895630] | Chr19:43195160 [GRCh38] Chr19:43699312 [GRCh37] Chr19:19q13.31 |
benign |
NM_002780.5(PSG4):c.799A>G (p.Lys267Glu) | single nucleotide variant | not provided [RCV000947966] | Chr19:43195184 [GRCh38] Chr19:43699336 [GRCh37] Chr19:19q13.31 |
benign |
GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076) | copy number gain | not specified [RCV002052685] | Chr19:43082847..44100076 [GRCh37] Chr19:19q13.2-13.31 |
uncertain significance |
GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3 | copy number gain | not provided [RCV002472871] | Chr19:43084067..44096910 [GRCh37] Chr19:19q13.2-13.31 |
uncertain significance |
NM_002780.5(PSG4):c.92C>T (p.Pro31Leu) | single nucleotide variant | Inborn genetic diseases [RCV002884009] | Chr19:43204224 [GRCh38] Chr19:43708376 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.187G>A (p.Ala63Thr) | single nucleotide variant | Inborn genetic diseases [RCV002880140] | Chr19:43204129 [GRCh38] Chr19:43708281 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.1174T>C (p.Tyr392His) | single nucleotide variant | Inborn genetic diseases [RCV002946315] | Chr19:43194409 [GRCh38] Chr19:43698561 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.362C>G (p.Thr121Ser) | single nucleotide variant | Inborn genetic diseases [RCV002906289] | Chr19:43203954 [GRCh38] Chr19:43708106 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.461G>C (p.Ser154Thr) | single nucleotide variant | Inborn genetic diseases [RCV002684956] | Chr19:43198245 [GRCh38] Chr19:43702397 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.1082G>A (p.Arg361Gln) | single nucleotide variant | Inborn genetic diseases [RCV002661258] | Chr19:43194501 [GRCh38] Chr19:43698653 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.8C>T (p.Pro3Leu) | single nucleotide variant | Inborn genetic diseases [RCV002799523] | Chr19:43205529 [GRCh38] Chr19:43709681 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.703C>T (p.Leu235Phe) | single nucleotide variant | Inborn genetic diseases [RCV002767197] | Chr19:43198003 [GRCh38] Chr19:43702155 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.856G>A (p.Val286Ile) | single nucleotide variant | Inborn genetic diseases [RCV002919335] | Chr19:43195127 [GRCh38] Chr19:43699279 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.1081C>G (p.Arg361Gly) | single nucleotide variant | Inborn genetic diseases [RCV002826529] | Chr19:43194502 [GRCh38] Chr19:43698654 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.565A>G (p.Met189Val) | single nucleotide variant | Inborn genetic diseases [RCV002788061] | Chr19:43198141 [GRCh38] Chr19:43702293 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.995C>T (p.Pro332Leu) | single nucleotide variant | Inborn genetic diseases [RCV002940786] | Chr19:43194588 [GRCh38] Chr19:43698740 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.778T>G (p.Phe260Val) | single nucleotide variant | Inborn genetic diseases [RCV002964141] | Chr19:43195205 [GRCh38] Chr19:43699357 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.925C>G (p.Gln309Glu) | single nucleotide variant | Inborn genetic diseases [RCV002669529] | Chr19:43195058 [GRCh38] Chr19:43699210 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.387T>A (p.Asp129Glu) | single nucleotide variant | Inborn genetic diseases [RCV002808706] | Chr19:43203929 [GRCh38] Chr19:43708081 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.847A>C (p.Ser283Arg) | single nucleotide variant | Inborn genetic diseases [RCV002768889] | Chr19:43195136 [GRCh38] Chr19:43699288 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.34C>T (p.Arg12Cys) | single nucleotide variant | Inborn genetic diseases [RCV002718154] | Chr19:43205503 [GRCh38] Chr19:43709655 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.916G>A (p.Gly306Arg) | single nucleotide variant | Inborn genetic diseases [RCV002719965] | Chr19:43195067 [GRCh38] Chr19:43699219 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.53T>C (p.Val18Ala) | single nucleotide variant | Inborn genetic diseases [RCV003010786] | Chr19:43205484 [GRCh38] Chr19:43709636 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.710C>T (p.Pro237Leu) | single nucleotide variant | Inborn genetic diseases [RCV002680138] | Chr19:43195273 [GRCh38] Chr19:43699425 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.325A>C (p.Ile109Leu) | single nucleotide variant | Inborn genetic diseases [RCV002656343] | Chr19:43203991 [GRCh38] Chr19:43708143 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.452T>A (p.Ile151Asn) | single nucleotide variant | Inborn genetic diseases [RCV002724810] | Chr19:43198254 [GRCh38] Chr19:43702406 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.382C>T (p.Arg128Cys) | single nucleotide variant | Inborn genetic diseases [RCV003207017] | Chr19:43203934 [GRCh38] Chr19:43708086 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.1066G>A (p.Ala356Thr) | single nucleotide variant | Inborn genetic diseases [RCV003196271] | Chr19:43194517 [GRCh38] Chr19:43698669 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.482C>T (p.Ala161Val) | single nucleotide variant | Inborn genetic diseases [RCV003200157] | Chr19:43198224 [GRCh38] Chr19:43702376 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.50G>C (p.Gly17Ala) | single nucleotide variant | Inborn genetic diseases [RCV003309565] | Chr19:43205487 [GRCh38] Chr19:43709639 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.664C>A (p.Pro222Thr) | single nucleotide variant | Inborn genetic diseases [RCV003367356] | Chr19:43198042 [GRCh38] Chr19:43702194 [GRCh37] Chr19:19q13.31 |
uncertain significance |
NM_002780.5(PSG4):c.903G>A (p.Thr301=) | single nucleotide variant | not provided [RCV003425237] | Chr19:43195080 [GRCh38] Chr19:43699232 [GRCh37] Chr19:19q13.31 |
likely benign |
NM_002780.5(PSG4):c.1250T>C (p.Ile417Thr) | single nucleotide variant | not provided [RCV003407021] | Chr19:43193382 [GRCh38] Chr19:43697534 [GRCh37] Chr19:19q13.31 |
likely benign |
NM_002780.5(PSG4):c.65-576G>A | single nucleotide variant | not provided [RCV003425238] | Chr19:43204827 [GRCh38] Chr19:43708979 [GRCh37] Chr19:19q13.31 |
likely benign |
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. |
RH39145 |
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STS-N26627 |
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D19S1087 |
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RH46954 |
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STS-T95748 |
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RH18009 |
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GDB:374795 |
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GDB:375167 |
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RH99270 |
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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 | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 3 | 4 | 7 | 2 | 37 | 3 | 18 | 24 | 18 | 43 | 5 | 1 | 21 | 2 | ||
Low | 40 | 3 | 52 | 62 | 5 | 7 | 892 | 24 | 49 | 98 | 150 | 66 | 60 | 85 | 411 | 2 |
Below cutoff | 871 | 499 | 715 | 151 | 286 | 77 | 1310 | 680 | 1301 | 137 | 648 | 496 | 80 | 629 | 711 | 1 |
RefSeq Acc Id: | ENST00000244295 ⟹ ENSP00000244295 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000405312 ⟹ ENSP00000384770 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000433626 ⟹ ENSP00000387864 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000451895 ⟹ ENSP00000388134 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000490769 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000495316 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000595949 ⟹ ENSP00000472243 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000596199 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000596907 ⟹ ENSP00000471124 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000597349 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000597374 ⟹ ENSP00000472423 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000597912 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000599371 ⟹ ENSP00000472818 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000599391 ⟹ ENSP00000472885 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000599746 ⟹ ENSP00000469547 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000600572 ⟹ ENSP00000470073 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000601041 ⟹ ENSP00000470992 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001276495 ⟹ NP_001263424 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001316339 ⟹ NP_001303268 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_002780 ⟹ NP_002771 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_213633 ⟹ NP_998798 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017026997 ⟹ XP_016882486 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047439103 ⟹ XP_047295059 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047439104 ⟹ XP_047295060 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_047439105 ⟹ XP_047295061 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054321489 ⟹ XP_054177464 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_002771 ⟸ NM_002780 |
- Peptide Label: | isoform 1 precursor |
- UniProtKB: | Q15240 (UniProtKB/Swiss-Prot), Q15234 (UniProtKB/Swiss-Prot), Q13048 (UniProtKB/Swiss-Prot), Q13047 (UniProtKB/Swiss-Prot), E7EX79 (UniProtKB/Swiss-Prot), Q9UQ76 (UniProtKB/Swiss-Prot), Q00888 (UniProtKB/Swiss-Prot), Q6P520 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_998798 ⟸ NM_213633 |
- Peptide Label: | isoform 2 precursor |
- UniProtKB: | Q00888 (UniProtKB/Swiss-Prot), Q96QL5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001263424 ⟸ NM_001276495 |
- Peptide Label: | isoform 3 precursor |
- UniProtKB: | B3KQL2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001303268 ⟸ NM_001316339 |
- Peptide Label: | isoform 4 |
- UniProtKB: | M0R0B3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_016882486 ⟸ XM_017026997 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q6P520 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000472243 ⟸ ENST00000595949 |
RefSeq Acc Id: | ENSP00000471124 ⟸ ENST00000596907 |
RefSeq Acc Id: | ENSP00000388134 ⟸ ENST00000451895 |
RefSeq Acc Id: | ENSP00000472423 ⟸ ENST00000597374 |
RefSeq Acc Id: | ENSP00000472818 ⟸ ENST00000599371 |
RefSeq Acc Id: | ENSP00000472885 ⟸ ENST00000599391 |
RefSeq Acc Id: | ENSP00000469547 ⟸ ENST00000599746 |
RefSeq Acc Id: | ENSP00000244295 ⟸ ENST00000244295 |
RefSeq Acc Id: | ENSP00000470073 ⟸ ENST00000600572 |
RefSeq Acc Id: | ENSP00000470992 ⟸ ENST00000601041 |
RefSeq Acc Id: | ENSP00000384770 ⟸ ENST00000405312 |
RefSeq Acc Id: | ENSP00000387864 ⟸ ENST00000433626 |
RefSeq Acc Id: | XP_047295061 ⟸ XM_047439105 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047295060 ⟸ XM_047439104 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_047295059 ⟸ XM_047439103 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054177464 ⟸ XM_054321489 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q00888-F1-model_v2 | AlphaFold | Q00888 | 1-419 | view protein structure |
RGD ID: | 7240213 | ||||||||
Promoter ID: | EPDNEW_H25852 | ||||||||
Type: | initiation region | ||||||||
Name: | PSG4_1 | ||||||||
Description: | pregnancy specific beta-1-glycoprotein 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9521 | AgrOrtholog |
COSMIC | PSG4 | COSMIC |
Ensembl Genes | ENSG00000243137 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000244295 | ENTREZGENE |
ENST00000244295.13 | UniProtKB/Swiss-Prot | |
ENST00000405312 | ENTREZGENE | |
ENST00000405312.8 | UniProtKB/Swiss-Prot | |
ENST00000433626 | ENTREZGENE | |
ENST00000433626.6 | UniProtKB/Swiss-Prot | |
ENST00000451895.1 | UniProtKB/TrEMBL | |
ENST00000595949.1 | UniProtKB/TrEMBL | |
ENST00000596907 | ENTREZGENE | |
ENST00000596907.5 | UniProtKB/TrEMBL | |
ENST00000597374.5 | UniProtKB/TrEMBL | |
ENST00000599371.1 | UniProtKB/TrEMBL | |
ENST00000599391.1 | UniProtKB/TrEMBL | |
ENST00000599746.5 | UniProtKB/TrEMBL | |
ENST00000600572.1 | UniProtKB/TrEMBL | |
ENST00000601041.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000243137 | GTEx |
HGNC ID | HGNC:9521 | ENTREZGENE |
Human Proteome Map | PSG4 | Human Proteome Map |
InterPro | Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_V-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5672 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 5672 | ENTREZGENE |
OMIM | 176393 | OMIM |
PANTHER | CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 19 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5-RELATED | UniProtKB/TrEMBL | |
CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 8 | UniProtKB/TrEMBL | |
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1 | UniProtKB/TrEMBL | |
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 11-RELATED | UniProtKB/TrEMBL | |
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PTHR44427:SF24 | UniProtKB/TrEMBL | |
Pfam | Ig_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ig_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
V-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA33866 | PharmGKB |
PROSITE | IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | IGc2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B3KQL2 | ENTREZGENE, UniProtKB/TrEMBL |
C9JWP2_HUMAN | UniProtKB/TrEMBL | |
E7EX79 | ENTREZGENE | |
M0QY31_HUMAN | UniProtKB/TrEMBL | |
M0QYU2_HUMAN | UniProtKB/TrEMBL | |
M0R046_HUMAN | UniProtKB/TrEMBL | |
M0R0B3 | ENTREZGENE, UniProtKB/TrEMBL | |
M0R215_HUMAN | UniProtKB/TrEMBL | |
M0R2A2_HUMAN | UniProtKB/TrEMBL | |
M0R2U8_HUMAN | UniProtKB/TrEMBL | |
M0R2Y7_HUMAN | UniProtKB/TrEMBL | |
PSG4_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q13047 | ENTREZGENE | |
Q13048 | ENTREZGENE | |
Q15234 | ENTREZGENE | |
Q15240 | ENTREZGENE | |
Q6P520 | ENTREZGENE, UniProtKB/TrEMBL | |
Q96QL5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9UQ76 | ENTREZGENE | |
UniProt Secondary | E7EX79 | UniProtKB/Swiss-Prot |
Q13047 | UniProtKB/Swiss-Prot | |
Q13048 | UniProtKB/Swiss-Prot | |
Q15234 | UniProtKB/Swiss-Prot | |
Q15240 | UniProtKB/Swiss-Prot | |
Q9UQ76 | UniProtKB/Swiss-Prot |