AceView: Gene:NLRP7, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.

Expression: According to AceView, this gene is well expressed, 0.6 times the average gene in this release. The sequence of this gene is defined by 68 GenBank accessions from 65 cDNA clones, some from epid tumor (seen 18 times), lymph (11), lymphoma, cell line (11), testis (7), germ cell tumor (3), embryonic trophoblasts, made from WA01 stemcells (2), placenta cot 25-normalized (2) and 8 other tissues. We annotate structural defects or features in 3 cDNA clones.
Alternative mRNA variants and regulation: The gene contains 20 distinct gt-ag introns. Transcription produces 6 alternatively spliced mRNAs. There are 2 probable alternative promotors and 3 validated alternative polyadenylation sites (see the diagram). The mRNAs appear to differ by truncation of the 5' end, presence or absence of 7 cassette exons, overlapping exons with different boundaries. 59 bp of this gene are antisense to spliced gene NLRP2andRPL36AP50, raising the possibility of regulated alternate expression.
Note that mRNA .dAug10 was found in vivo, although it is a predicted target of nonsense mediated mRNA decay (NMD).
Efficacy of translation may be reduced by the presence of a shorter translated product (uORF) initiating at an AUG upstream of the main open reading frame (in variant cAug10).
Function: There are 19 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (OMIM: Hydatidiform mole; Other sources: Seminoma; Testicular Neoplasms; Uterine Neoplasms). Proteins are expected to have molecular functions (ATP binding, nucleotide binding, protein binding) and to localize in cytoplasm.
Protein coding potential: 5 spliced mRNAs putatively encode good proteins, altogether 5 different isoforms (4 complete, 1 partial), some containing domains NACHT domain, PAAD/DAPIN/Pyrin domain [Pfam], apparently vertebrate specific. The remaining mRNA variant (spliced; partial) appears not to encode a good protein.

Please quote: AceView: a comprehensive cDNA-supported gene and transcripts annotation, Genome Biology 2006, 7(Suppl 1):S12

Alternative mRNAs are shown aligned from 5' to 3' on a virtual genome where introns have been shrunk to a minimal length. Exon size is proportional to length, intron height reflects the number of cDNAs supporting each intron, the small numbers show the support of the introns in deep sequencing (with details in mouse-over) . Introns of the same color are identical, of different colors are different. 'Good proteins' are pink, partial or not-good proteins are yellow, uORFs are green. 5' cap or3' poly A flags show completeness of the transcript.
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cDNA accession Links to the sequence	Tissue most 5' clones in red	Match mRNA	From bp to bp in mRNA	From bp to bp in accs.	Clone encodes complete protein (with AA variation)	Features	Anomalies detected by AceView	Accession match over (% length)	Base differences relative to genome (% identity)
AF464765		.c	307 to 3519	1 to 3214	exact	tiling clone, AAA		3215/3214 (100 %)	6 diff (99.9 %id)
AK302655	testis	.a	1 to 3826	1 to 3826	V347I	tiling clone,		3826/3826 (100 %)	5 diff (99.9 %id)
AK313964	testis	.a	17 to 3601	1 to 3585	V347I			3585/3585 (100 %)	5 diff (99.9 %id)
AY154462		.c	282 to 3525	1 to 3244	exact	tiling clone,		3244/3245 (99 %)	3 diff (100.0 %id)
BC109124	PCR rescued clones	.d	1 to 3233	1 to 3233	Q310R L311I A481T	tiling clone,		3233/3233 (100 %)	6 diff (99.9 %id)
BC109125	PCR rescued clones	.a	420 to 3688	1 to 3269		tiling clone,		3269/3269 (100 %)	7 diff (99.8 %id)
BF768504	epid_tumor	.a	450 to 1009	34 to 601				567/601 (94 %)	4 diff (99.4 %id)
BF768507	epid_tumor	.e	1 to 526	17 to 538	W114R	tiling clone,		525/538 (97 %)	4 diff (99.3 %id)
BF768510	epid_tumor	.a	606 to 1148	563 to 29			Submitted on the opposite strand	535/574 (93 %)	13 diff (97.8 %id)
BF768513	epid_tumor	.a	415 to 1015	1 to 592				594/593 (100 %)	21 diff (96.5 %id)
BF768517	epid_tumor	.a	452 to 623	45 to 216				172/216 (79 %)	0 diff (100 %id)
BF768565	epid_tumor	.a	417 to 984	24 to 589				566/591 (95 %)	7 diff (98.9 %id)
BF768567	epid_tumor	.a	584 to 1004	132 to 551				420/552 (76 %)	8 diff (98.6 %id)
BF768693	epid_tumor	.a	456 to 930	16 to 490				475/490 (96 %)	2 diff (99.6 %id)
BF768701	epid_tumor	.a	452 to 698	43 to 300				258/300 (86 %)	0 diff (100 %id)
BF770151	epid_tumor	.a	2580 to 3046	480 to 15			Submitted on the opposite strand	466/480 (97 %)	3 diff (99.4 %id)
BF770152	epid_tumor	.a	2595 to 3046	474 to 23			Submitted on the opposite strand	452/474 (95 %)	4 diff (99.2 %id)
BF770153	epid_tumor	.a	2569 to 3044	497 to 25			Submitted on the opposite strand	473/497 (95 %)	3 diff (99.4 %id)
BF770183	epid_tumor	.a	2076 to 2357	9 to 285				277/285 (97 %)	0 diff (100 %id)
BF770190	epid_tumor	.a	2131 to 2527	13 to 410				398/410 (97 %)	0 diff (100 %id)
BF770192	epid_tumor	.a	2626 to 3046	443 to 25			Submitted on the opposite strand	419/443 (94 %)	4 diff (99.1 %id)
BF770201	epid_tumor	.a	2550 to 2960	462 to 53			Submitted on the opposite strand	410/462 (88 %)	1 diff (99.8 %id)
BF770202	epid_tumor	.a	2617 to 3046	447 to 22			Submitted on the opposite strand	426/447 (95 %)	3 diff (99.4 %id)
CD051200	embryonic trophoblasts, made from WA01 stemcells	.a	2421 to 3299	23 to 910				888/913 (97 %)	12 diff (98.7 %id)
CD389465	embryonic trophoblasts, made from WA01 stemcells	.a	2294 to 2786	24 to 530				507/960 (52 %)	11 diff (98.9 %id)
CD691759	normal nasopharynx	.a	2273 to 2841	18 to 585				568/585 (97 %)	1 diff (99.9 %id)
CR594199	Placenta Cot 25-normalized	.a	2360 to 3776	1 to 1417				1417/1417 (100 %)	0 diff (100 %id)
CR607466	B cells (Ramos cell line) Cot 25-normalized	.a	2227 to 3812	1 to 1586		tiling clone,		1586/1586 (100 %)	0 diff (100 %id)
BX356995	Placenta Cot 25-normalized	.a	3029 to 3776	752 to 1		fully sequenced,		752/752 (100 %)	10 diff (98.7 %id)
BX356996	Placenta Cot 25-normalized	.a	2360 to 3059	1 to 698		fully sequenced,		698/698 (100 %)	0 diff (100 %id)
BX363944		.a	3099 to 3796	711 to 14		fully sequenced,		698/711 (98 %)	0 diff (100 %id)
BX363945		.a	2227 to 3160	1 to 934		fully sequenced,		934/934 (100 %)	1 diff (99.9 %id)
CV396920	epid_tumor	.a	609 to 1141	555 to 4			Submitted on the opposite strand	552/555 (99 %)	0 diff (100 %id)
BX646340		.a	416 to 944	1 to 529				529/529 (100 %)	2 diff (99.7 %id)
AA075860		.a	1505 to 1900	1 to 387				387/393 (98 %)	12 diff (97.0 %id)
AA558585	germ cell tumor	.a	3342 to 3826	484 to 1				484/484 (100 %)	3 diff (99.4 %id)
AA565499	germ cell tumor	.a	3411 to 3826	417 to 2				416/417 (99 %)	0 diff (100 %id)
AA864939	pooled germ cell tumors	.c	3305 to 3525	227 to 7				221/227 (97 %)	0 diff (100 %id)
AA991648	germ cell tumor	.c	3202 to 3519	318 to 1				318/318 (100 %)	2 diff (99.4 %id)
AI360576	pooled germ cell tumors	.a	3463 to 3826	364 to 1				364/364 (100 %)	0 diff (100 %id)
AW204069		.c	3207 to 3519	330 to 18		AAA		313/323 (96 %)	0 diff (100 %id)
BI828545	brain, medulla	.a	418 to 1065	1 to 648		tiling clone,		648/650 (99 %)	1 diff (99.9 %id)
BQ055172	lymph, lymphoma, cell line	.a	2222 to 2687	1 to 467				467/1409 (33 %)	10 diff (99.3 %id)
BQ058731	lymph, lymphoma, cell line	.a	2217 to 2891	1 to 682				682/1219 (55 %)	15 diff (98.8 %id)
BQ058852	lymph, lymphoma, cell line	.a	2228 to 3130	1 to 907				907/995 (91 %)	10 diff (99.0 %id)
BQ059434	lymph, lymphoma, cell line	.a	2556 to 3474	1 to 932				932/1034 (90 %)	22 diff (97.9 %id)
BQ061119	lymph, lymphoma, cell line	.a	2228 to 3157	1 to 935				935/1032 (90 %)	9 diff (99.2 %id)
BQ065714	lymph, lymphoma, cell line	.a	2233 to 3127	1 to 906				904/1009 (89 %)	23 diff (97.8 %id)
BQ065843	lymph, lymphoma, cell line	.a	2236 to 2958	1 to 723				723/1035 (69 %)	6 diff (99.5 %id)
BQ066740	lymph, lymphoma, cell line	.a	2233 to 3141	1 to 912				912/1033 (88 %)	12 diff (98.9 %id)
BQ642431	lymph, lymphoma, cell line	.a	2556 to 3232	1 to 678				678/893 (75 %)	3 diff (99.7 %id)
BQ643350	lymph, lymphoma, cell line	.a	2254 to 3012	20 to 785				766/856 (89 %)	21 diff (97.6 %id)
BQ642323	lymph, lymphoma, cell line	.a	2236 to 3082	1 to 849				849/931 (91 %)	18 diff (98.1 %id)
TI_57175237		.a	418 to 1065	30 to 677				648/679 (95 %)	1 diff (99.9 %id)
NM_139176.3		.b	332 to 3668	1 to 3337	exact	RefSeq,		3337/3337 (100 %)	0 diff (100 %id)
NM_206828.3		.c	276 to 3525	1 to 3250	exact	RefSeq,		3250/3250 (100 %)	0 diff (100 %id)
NM_001127255.1		.a	412 to 3832	1 to 3421		RefSeq,		3421/3421 (100 %)	0 diff (100 %id)
DC400161	testis	.f	1 to 543	1 to 543	exact	tiling clone,		543/543 (100 %)	0 diff (100 %id)
DC401679	testis	.a	1 to 544	1 to 547				547/547 (100 %)	3 diff (99.5 %id)
DC426810	testis	.a	3269 to 3826	559 to 1				559/559 (100 %)	1 diff (99.9 %id)
DC403277	testis	.a	17 to 577	1 to 561				561/561 (100 %)	0 diff (100 %id)
DC403313	testis	.c	1 to 561	1 to 561		tiling clone,		561/561 (100 %)	2 diff (99.7 %id)
DC403336	testis	.b	1 to 568	1 to 570		tiling clone,		570/570 (100 %)	2 diff (99.7 %id)
TI_153987677		.c	3207 to 3519	404 to 92		AAA		313/385 (81 %)	0 diff (100 %id)
TI_154188601		.a	2236 to 3132	121 to 1005				885/943 (93 %)	16 diff (98.4 %id)
AK298630		.a	418 to 1065	30 to 677			Suspected internal deletion, suspected internal deletion, this clone was ignored	648/679 (95 %)	1 diff (99.9 %id)
AV733170	pheochromocytoma	.b	332 to 3668	1 to 3337		RefSeq,	Suspected internal deletion, this clone was ignored	3337/3337 (100 %)	0 diff (100 %id)
DC425389		.c	276 to 3525	1 to 3250		RefSeq,	Suspected internal deletion, this clone was ignored	3250/3250 (100 %)	0 diff (100 %id)
NM_001127255.1		.a	412 to 3832	1 to 3421		RefSeq,		3421/3421 (100 %)	0 diff (100 %id)
DC400161	testis	.f	1 to 543	1 to 543	exact	tiling clone,		543/543 (100 %)	0 diff (100 %id)
DC401679	testis	.a	1 to 544	1 to 547				547/547 (100 %)	3 diff (99.5 %id)
DC426810	testis	.a	3269 to 3826	559 to 1				559/559 (100 %)	1 diff (99.9 %id)
DC403277	testis	.a	17 to 577	1 to 561				561/561 (100 %)	0 diff (100 %id)
DC403313	testis	.c	1 to 561	1 to 561		tiling clone,		561/561 (100 %)	2 diff (99.7 %id)
DC403336	testis	.b	1 to 568	1 to 570		tiling clone,		570/570 (100 %)	2 diff (99.7 %id)
TI_153987677		.c	3207 to 3519	404 to 92		AAA		313/385 (81 %)	0 diff (100 %id)
TI_154188601		.a	2236 to 3132	121 to 1005				885/943 (93 %)	16 diff (98.4 %id)